Canonical Allele Identifier: CA2578035814

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301252_6301253insAG , CM000666.2:g.6301252_6301253insAG	GRCh38
NC_000004.11:g.6302979_6302980insAG , CM000666.1:g.6302979_6302980insAG	GRCh37
NC_000004.10:g.6353880_6353881insAG	NCBI36
NG_011700.1:g.36403_36404insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1493_1494insAG	ENSP00000507852.1:p.Thr499GlyfsTer?
ENST00000683395.1:c.1434_1435insAG
ENST00000684087.1:c.1457_1458insAG	ENSP00000506978.1:p.Thr487GlyfsTer?
ENST00000506362.2:c.1208_1209insAG	ENSP00000424103.2:p.Thr404GlyfsTer?
ENST00000673642.1:c.1116_1117insAG	ENSP00000501242.1:p.Asp373ArgfsTer?
ENST00000673991.1:c.1493_1494insAG	ENSP00000501033.1:p.Thr499GlyfsTer?
ENST00000226760.5:c.1457_1458insAG MANE Select	ENSP00000226760.1:p.Thr487GlyfsTer?
ENST00000503569.5:c.1457_1458insAG	ENSP00000423337.1:p.Thr487GlyfsTer?
ENST00000507765.1:n.1642_1643insAG
NM_001145853.1:c.1457_1458insAG	NP_001139325.1:p.Thr487GlyfsTer?
NM_006005.3:c.1457_1458insAG MANE Select	NP_005996.2:p.Thr487GlyfsTer?
XM_017008586.1:c.1466_1467insAG	XP_016864075.1:p.Thr490GlyfsTer?