Canonical Allele Identifier: CA2841725576
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302109dup , CM000666.2:g.6302109dup GRCh38
NC_000004.11:g.6303836dup , CM000666.1:g.6303836dup GRCh37
NC_000004.10:g.6354737dup NCBI36
NG_011700.1:g.37260dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2350dup ENSP00000507852.1:p.Arg784ProfsTer5
ENST00000683395.1:c.2291dup
ENST00000684087.1:c.2314dup ENSP00000506978.1:p.Arg772ProfsTer5
ENST00000506362.2:c.2065dup ENSP00000424103.2:p.Arg689ProfsTer5
ENST00000673642.1:c.1973dup ENSP00000501242.1:n.1973dup
ENST00000673991.1:c.2350dup ENSP00000501033.1:p.Arg784ProfsTer5
ENST00000226760.5:c.2314dup MANE Select ENSP00000226760.1:p.Arg772ProfsTer5
ENST00000503569.5:c.2314dup ENSP00000423337.1:p.Arg772ProfsTer5
ENST00000507765.1:n.2499dup
NM_001145853.1:c.2314dup NP_001139325.1:p.Arg772ProfsTer5
NM_006005.3:c.2314dup MANE Select NP_005996.2:p.Arg772ProfsTer5
XM_017008586.1:c.2323dup XP_016864075.1:p.Arg775ProfsTer5