Canonical Allele Identifier: CA2669843418

Gene: WFS1

Linked Data

• gnomAD v4: 4-6300837-GTCATCTTCTACCTGTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300844_6300861del , CM000666.2:g.6300844_6300861del	GRCh38
NC_000004.11:g.6302571_6302588del , CM000666.1:g.6302571_6302588del	GRCh37
NC_000004.10:g.6353472_6353489del	NCBI36
NG_011700.1:g.35995_36012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1085_1102del	ENSP00000507852.1:p.Phe362_Ile367del
ENST00000683395.1:c.1026_1043del
ENST00000684087.1:c.1049_1066del	ENSP00000506978.1:p.Phe350_Ile355del
ENST00000506362.2:c.800_817del	ENSP00000424103.2:p.Phe267_Ile272del
ENST00000673642.1:c.708_725del	ENSP00000501242.1:p.Leu237_Leu242del
ENST00000673991.1:c.1085_1102del	ENSP00000501033.1:p.Phe362_Ile367del
ENST00000226760.5:c.1049_1066del MANE Select	ENSP00000226760.1:p.Phe350_Ile355del
ENST00000503569.5:c.1049_1066del	ENSP00000423337.1:p.Phe350_Ile355del
ENST00000506362.1:c.682_699del
ENST00000507765.1:n.1234_1251del
NM_001145853.1:c.1049_1066del	NP_001139325.1:p.Phe350_Ile355del
NM_006005.3:c.1049_1066del MANE Select	NP_005996.2:p.Phe350_Ile355del
XM_017008586.1:c.1058_1075del	XP_016864075.1:p.Phe353_Ile358del