Canonical Allele Identifier: CA1435773449

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301398_6301412delinsCTGGTGTGCTTCATG , CM000666.2:g.6301398_6301412delinsCTGGTGTGCTTCATG	GRCh38
NC_000004.11:g.6303125_6303139delinsCTGGTGTGCTTCATG , CM000666.1:g.6303125_6303139delinsCTGGTGTGCTTCATG	GRCh37
NC_000004.10:g.6354026_6354040delinsCTGGTGTGCTTCATG	NCBI36
NG_011700.1:g.36549_36563delinsCTGGTGTGCTTCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1639_1653delinsCTGGTGTGCTTCATG	ENSP00000507852.1:p.Leu547=
ENST00000683395.1:c.1580_1594delinsCTGGTGTGCTTCATG
ENST00000684087.1:c.1603_1617delinsCTGGTGTGCTTCATG	ENSP00000506978.1:p.Leu535=
ENST00000506362.2:c.1354_1368delinsCTGGTGTGCTTCATG	ENSP00000424103.2:p.Leu452=
ENST00000673642.1:c.1262_1276delinsCTGGTGTGCTTCATG	ENSP00000501242.1:p.Pro421=
ENST00000673991.1:c.1639_1653delinsCTGGTGTGCTTCATG	ENSP00000501033.1:p.Leu547=
ENST00000226760.5:c.1603_1617delinsCTGGTGTGCTTCATG MANE Select	ENSP00000226760.1:p.Leu535=
ENST00000503569.5:c.1603_1617delinsCTGGTGTGCTTCATG	ENSP00000423337.1:p.Leu535=
ENST00000507765.1:n.1788_1802delinsCTGGTGTGCTTCATG
NM_001145853.1:c.1603_1617delinsCTGGTGTGCTTCATG	NP_001139325.1:p.Leu535=
NM_006005.3:c.1603_1617delinsCTGGTGTGCTTCATG MANE Select	NP_005996.2:p.Leu535=
XM_017008586.1:c.1612_1626delinsCTGGTGTGCTTCATG	XP_016864075.1:p.Leu538=