Canonical Allele Identifier: CA1058891124

Gene: WFS1

Linked Data

• dbSNP Id: rs1730859590
• gnomAD v3: 4-6300832-C-CGCT
• gnomAD v4: 4-6300832-C-CGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300834_6300836dup , CM000666.2:g.6300834_6300836dup	GRCh38
NC_000004.11:g.6302561_6302563dup , CM000666.1:g.6302561_6302563dup	GRCh37
NC_000004.10:g.6353462_6353464dup	NCBI36
NG_011700.1:g.35985_35987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1075_1077dup	ENSP00000507852.1:p.Leu359_Val360insLeu
ENST00000683395.1:c.1016_1018dup
ENST00000684087.1:c.1039_1041dup	ENSP00000506978.1:p.Leu347_Val348insLeu
ENST00000506362.2:c.790_792dup	ENSP00000424103.2:p.Leu264_Val265insLeu
ENST00000673642.1:c.698_700dup	ENSP00000501242.1:p.Ala233_Gly234insAla
ENST00000673991.1:c.1075_1077dup	ENSP00000501033.1:p.Leu359_Val360insLeu
ENST00000226760.5:c.1039_1041dup MANE Select	ENSP00000226760.1:p.Leu347_Val348insLeu
ENST00000503569.5:c.1039_1041dup	ENSP00000423337.1:p.Leu347_Val348insLeu
ENST00000506362.1:c.672_674dup
ENST00000507765.1:n.1224_1226dup
NM_001145853.1:c.1039_1041dup	NP_001139325.1:p.Leu347_Val348insLeu
NM_006005.3:c.1039_1041dup MANE Select	NP_005996.2:p.Leu347_Val348insLeu
XM_017008586.1:c.1048_1050dup	XP_016864075.1:p.Leu350_Val351insLeu