Canonical Allele Identifier: CA2586973629
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301376dup , CM000666.2:g.6301376dup GRCh38
NC_000004.11:g.6303103dup , CM000666.1:g.6303103dup GRCh37
NC_000004.10:g.6354004dup NCBI36
NG_011700.1:g.36527dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1617dup ENSP00000507852.1:p.Tyr540LeufsTer15
ENST00000683395.1:c.1558dup
ENST00000684087.1:c.1581dup ENSP00000506978.1:p.Tyr528LeufsTer15
ENST00000506362.2:c.1332dup ENSP00000424103.2:p.Tyr445LeufsTer15
ENST00000673642.1:c.1240dup ENSP00000501242.1:p.Leu414ProfsTer?
ENST00000673991.1:c.1617dup ENSP00000501033.1:p.Tyr540LeufsTer15
ENST00000226760.5:c.1581dup MANE Select ENSP00000226760.1:p.Tyr528LeufsTer15
ENST00000503569.5:c.1581dup ENSP00000423337.1:p.Tyr528LeufsTer15
ENST00000507765.1:n.1766dup
NM_001145853.1:c.1581dup NP_001139325.1:p.Tyr528LeufsTer15
NM_006005.3:c.1581dup MANE Select NP_005996.2:p.Tyr528LeufsTer15
XM_017008586.1:c.1590dup XP_016864075.1:p.Tyr531LeufsTer15