Canonical Allele Identifier: CA2841725575
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301985dup , CM000666.2:g.6301985dup GRCh38
NC_000004.11:g.6303712dup , CM000666.1:g.6303712dup GRCh37
NC_000004.10:g.6354613dup NCBI36
NG_011700.1:g.37136dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2226dup ENSP00000507852.1:p.Met743AspfsTer28
ENST00000683395.1:c.2167dup
ENST00000684087.1:c.2190dup ENSP00000506978.1:p.Met731AspfsTer28
ENST00000506362.2:c.1941dup ENSP00000424103.2:p.Met648AspfsTer28
ENST00000673642.1:c.1849dup ENSP00000501242.1:n.1849dup
ENST00000673991.1:c.2226dup ENSP00000501033.1:p.Met743AspfsTer28
ENST00000226760.5:c.2190dup MANE Select ENSP00000226760.1:p.Met731AspfsTer28
ENST00000503569.5:c.2190dup ENSP00000423337.1:p.Met731AspfsTer28
ENST00000507765.1:n.2375dup
NM_001145853.1:c.2190dup NP_001139325.1:p.Met731AspfsTer28
NM_006005.3:c.2190dup MANE Select NP_005996.2:p.Met731AspfsTer28
XM_017008586.1:c.2199dup XP_016864075.1:p.Met734AspfsTer28