Canonical Allele Identifier: CA1435773268

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301335_6301338delinsCTCT , CM000666.2:g.6301335_6301338delinsCTCT	GRCh38
NC_000004.11:g.6303062_6303065delinsCTCT , CM000666.1:g.6303062_6303065delinsCTCT	GRCh37
NC_000004.10:g.6353963_6353966delinsCTCT	NCBI36
NG_011700.1:g.36486_36489delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1576_1579delinsCTCT	ENSP00000507852.1:p.Leu526=
ENST00000683395.1:c.1517_1520delinsCTCT
ENST00000684087.1:c.1540_1543delinsCTCT	ENSP00000506978.1:p.Leu514=
ENST00000506362.2:c.1291_1294delinsCTCT	ENSP00000424103.2:p.Leu431=
ENST00000673642.1:c.1199_1202delinsCTCT	ENSP00000501242.1:p.Ser400=
ENST00000673991.1:c.1576_1579delinsCTCT	ENSP00000501033.1:p.Leu526=
ENST00000226760.5:c.1540_1543delinsCTCT MANE Select	ENSP00000226760.1:p.Leu514=
ENST00000503569.5:c.1540_1543delinsCTCT	ENSP00000423337.1:p.Leu514=
ENST00000507765.1:n.1725_1728delinsCTCT
NM_001145853.1:c.1540_1543delinsCTCT	NP_001139325.1:p.Leu514=
NM_006005.3:c.1540_1543delinsCTCT MANE Select	NP_005996.2:p.Leu514=
XM_017008586.1:c.1549_1552delinsCTCT	XP_016864075.1:p.Leu517=