Canonical Allele Identifier: CA2669843416

Gene: WFS1

Linked Data

• gnomAD v4: 4-6300825-T-TTCATCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300826_6300831dup , CM000666.2:g.6300826_6300831dup	GRCh38
NC_000004.11:g.6302553_6302558dup , CM000666.1:g.6302553_6302558dup	GRCh37
NC_000004.10:g.6353454_6353459dup	NCBI36
NG_011700.1:g.35977_35982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1067_1072dup	ENSP00000507852.1:p.Ile357_Pro358insLeuIle
ENST00000683395.1:c.1008_1013dup
ENST00000684087.1:c.1031_1036dup	ENSP00000506978.1:p.Ile345_Pro346insLeuIle
ENST00000506362.2:c.782_787dup	ENSP00000424103.2:p.Ile262_Pro263insLeuIle
ENST00000673642.1:c.690_695dup	ENSP00000501242.1:p.Pro232_Ala233insHisPro
ENST00000673991.1:c.1067_1072dup	ENSP00000501033.1:p.Ile357_Pro358insLeuIle
ENST00000226760.5:c.1031_1036dup MANE Select	ENSP00000226760.1:p.Ile345_Pro346insLeuIle
ENST00000503569.5:c.1031_1036dup	ENSP00000423337.1:p.Ile345_Pro346insLeuIle
ENST00000506362.1:c.664_669dup
ENST00000507765.1:n.1216_1221dup
NM_001145853.1:c.1031_1036dup	NP_001139325.1:p.Ile345_Pro346insLeuIle
NM_006005.3:c.1031_1036dup MANE Select	NP_005996.2:p.Ile345_Pro346insLeuIle
XM_017008586.1:c.1040_1045dup	XP_016864075.1:p.Ile348_Pro349insLeuIle