Transcript #00008354

Transcript name transcript variant 1
Gene name KANK1 (KN motif and ankyrin repeat domains 1)
Chromosome 9
Transcript - NCBI ID NM_015158.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055973.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

102 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-83-70A>G r.(=) p.(=)
./. - c.-83-53_-83-52insG r.(=) p.(=)
./. - c.-19T>C r.(=) p.(=)
./. - c.37+80G>A r.(=) p.(=)
./. - c.37+132A>G r.(=) p.(=)
./. - c.38-91C>G r.(=) p.(=)
./. - c.52A>G r.(?) p.(Ile18Val)
./. - c.149A>T r.(?) p.(Asp50Val)
./. - c.200G>A r.(?) p.(Arg67Gln)
./. - c.296_298del r.(?) p.(Asn100del)
./. - c.311C>A r.(?) p.(Pro104His)
./. - c.346A>G r.(?) p.(Thr116Ala)
./. - c.467A>G r.(?) p.(Lys156Arg)
./. - c.528G>A r.(=) p.(=)
./. - c.593C>T r.(?) p.(Ser198Phe)
./. - c.630C>G r.(?) p.(His210Gln)
./. - c.1294G>C r.(?) p.(Glu432Gln)
./. - c.1300A>C r.(=) p.(=)
./. - c.1371G>C r.(=) p.(=)
./. - c.1390T>G r.(?) p.(Ser464Ala)
./. - c.1833C>T r.(=) p.(=)
./. - c.1908C>T r.(=) p.(=)
./. - c.1936G>A r.(?) p.(Ala646Thr)
./. - c.1988T>C r.(?) p.(Met663Thr)
./. - c.2000G>A r.(?) p.(Arg667His)
./. - c.2018C>G r.(?) p.(Thr673Ser)
./. - c.2373A>C r.(=) p.(=)
./. - c.2541A>G r.(=) p.(=)
./. - c.2646T>G r.(=) p.(=)
./. - c.2699-85T>C r.(=) p.(=)
./. - c.2699-85_2699-84del r.(=) p.(=)
./. - c.2699-83A>C r.(=) p.(=)
./. - c.2699-79G>A r.(=) p.(=)
./. - c.2702A>G r.(?) p.(Asn901Ser)
./. - c.2896+18C>T r.(=) p.(=)
./. - c.2896+75A>G r.(=) p.(=)
./. - c.2896+90T>C r.(=) p.(=)
./. - c.3005+66A>G r.(=) p.(=)
./. - c.3005+83C>T r.(=) p.(=)
./. - c.3005+100C>T r.(=) p.(=)
./. - c.3005+124_3005+131del r.(=) p.(=)
./. - c.3005+134G>A r.(=) p.(=)
./. - c.3005+154G>T r.(=) p.(=)
./. - c.3006-76T>C r.(=) p.(=)
./. - c.3089A>G r.(?) p.(Tyr1030Cys)
./. - c.3164T>C r.(?) p.(Ile1055Thr)
./. - c.3245+9C>T r.(=) p.(=)
./. - c.3245+12T>C r.(=) p.(=)
./. - c.3245+87T>A r.(=) p.(=)
./. - c.3245+113C>G r.(=) p.(=)
./. - c.3245+126A>G r.(=) p.(=)
./. - c.3245+162A>G r.(=) p.(=)
./. - c.3246-133A>G r.(=) p.(=)
./. - c.3246-126T>C r.(=) p.(=)
./. - c.3246-103G>A r.(=) p.(=)
./. - c.3246-83_3246-82insA r.(=) p.(=)
./. - c.3246-69G>T r.(=) p.(=)
./. - c.3246-48A>T r.(=) p.(=)
./. - c.3246-40C>T r.(=) p.(=)
./. - c.3333+4A>C r.spl? p.?
./. - c.3333+19C>G r.(=) p.(=)
./. - c.3333+119T>C r.(=) p.(=)
./. - c.3333+819C>A r.(=) p.(=)
./. - c.3333+914T>A r.(=) p.(=)
./. - c.3334-47G>A r.(=) p.(=)
./. - c.3334-35A>G r.(=) p.(=)
./. - c.3477C>T r.(=) p.(=)
./. - c.3483C>T r.(=) p.(=)
./. - c.3553+5G>A r.spl? p.?
./. - c.3553+24_3553+28del r.(=) p.(=)
./. - c.3553+61A>G r.(=) p.(=)
./. - c.3553+83C>T r.(=) p.(=)
./. - c.3553+100G>A r.(=) p.(=)
./. - c.3553+132C>T r.(=) p.(=)
./. - c.3554-66C>G r.(=) p.(=)
./. - c.3554-65del r.(=) p.(=)
./. - c.3554-31C>G r.(=) p.(=)
./. - c.3554-27G>C r.(=) p.(=)
./. - c.3554-22_3554-16del r.spl? p.?
./. - c.3554-21_3554-16del r.spl? p.?
./. - c.3554-20_3554-16del r.spl? p.?
./. - c.3554-17_3554-16del r.spl? p.?
./. - c.3554-16del r.spl? p.?
./. - c.3554-5_3554-4insA r.spl? p.?
./. - c.3647T>C r.(?) p.(Ile1216Thr)
./. - c.3663C>T r.(=) p.(=)
./. - c.3696+4A>G r.spl? p.?
./. - c.3696+38G>A r.(=) p.(=)
./. - c.3696+38G>C r.(=) p.(=)
./. - c.3696+67T>C r.(=) p.(=)
./. - c.3828G>A r.(=) p.(=)
./. - c.3834A>G r.(=) p.(=)
./. - c.3897+52G>A r.(=) p.(=)
./. - c.3897+52G>C r.(=) p.(=)
./. - c.3898-13_3898-9del r.spl? p.?
./. - c.3912G>A r.(=) p.(=)
./. - c.3996+34C>T r.(=) p.(=)
./. - c.3996+147C>T r.(=) p.(=)
./. - c.3996+148G>A r.(=) p.(=)
./. - c.3997-135T>A r.(=) p.(=)
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