Canonical Allele Identifier: CA1435772604

Gene: WFS1

Linked Data

• dbSNP Id: rs1730873240

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301034_6301035dup , CM000666.2:g.6301034_6301035dup	GRCh38
NC_000004.11:g.6302761_6302762dup , CM000666.1:g.6302761_6302762dup	GRCh37
NC_000004.10:g.6353662_6353663dup	NCBI36
NG_011700.1:g.36185_36186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1275_1276dup	ENSP00000507852.1:p.Phe426SerfsTer29
ENST00000683395.1:c.1216_1217dup
ENST00000684087.1:c.1239_1240dup	ENSP00000506978.1:p.Phe414SerfsTer29
ENST00000506362.2:c.990_991dup	ENSP00000424103.2:p.Phe331SerfsTer29
ENST00000673642.1:c.898_899dup	ENSP00000501242.1:p.Arg301PhefsTer?
ENST00000673991.1:c.1275_1276dup	ENSP00000501033.1:p.Phe426SerfsTer29
ENST00000226760.5:c.1239_1240dup MANE Select	ENSP00000226760.1:p.Phe414SerfsTer29
ENST00000503569.5:c.1239_1240dup	ENSP00000423337.1:p.Phe414SerfsTer29
ENST00000507765.1:n.1424_1425dup
NM_001145853.1:c.1239_1240dup	NP_001139325.1:p.Phe414SerfsTer29
NM_006005.3:c.1239_1240dup MANE Select	NP_005996.2:p.Phe414SerfsTer29
XM_017008586.1:c.1248_1249dup	XP_016864075.1:p.Phe417SerfsTer29