Canonical Allele Identifier: CA1058891828

Gene: WFS1

Linked Data

• dbSNP Id: rs1730910649
• gnomAD v3: 4-6301482-T-TACTTCC
• gnomAD v4: 4-6301482-T-TACTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301483_6301488dup , CM000666.2:g.6301483_6301488dup	GRCh38
NC_000004.11:g.6303210_6303215dup , CM000666.1:g.6303210_6303215dup	GRCh37
NC_000004.10:g.6354111_6354116dup	NCBI36
NG_011700.1:g.36634_36639dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1724_1729dup	ENSP00000507852.1:p.Phe576_Leu577insHisPhe
ENST00000683395.1:c.1665_1670dup
ENST00000684087.1:c.1688_1693dup	ENSP00000506978.1:p.Phe564_Leu565insHisPhe
ENST00000506362.2:c.1439_1444dup	ENSP00000424103.2:p.Phe481_Leu482insHisPhe
ENST00000673642.1:c.1347_1352dup	ENSP00000501242.1:n.1347_1352dup
ENST00000673991.1:c.1724_1729dup	ENSP00000501033.1:p.Phe576_Leu577insHisPhe
ENST00000226760.5:c.1688_1693dup MANE Select	ENSP00000226760.1:p.Phe564_Leu565insHisPhe
ENST00000503569.5:c.1688_1693dup	ENSP00000423337.1:p.Phe564_Leu565insHisPhe
ENST00000507765.1:n.1873_1878dup
NM_001145853.1:c.1688_1693dup	NP_001139325.1:p.Phe564_Leu565insHisPhe
NM_006005.3:c.1688_1693dup MANE Select	NP_005996.2:p.Phe564_Leu565insHisPhe
XM_017008586.1:c.1697_1702dup	XP_016864075.1:p.Phe567_Leu568insHisPhe