Canonical Allele Identifier: CA549707906

Gene: WFS1

Linked Data

• dbSNP Id: rs1560418544
• gnomAD v2: 4-6302726-C-CT
• gnomAD v4: 4-6300999-C-CT
• MyVariant Identifiers: chr4:g.6302726_6302727insT (hg19) ; chr4:g.6300999_6301000insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301000dup , CM000666.2:g.6301000dup	GRCh38
NC_000004.11:g.6302727dup , CM000666.1:g.6302727dup	GRCh37
NC_000004.10:g.6353628dup	NCBI36
NG_011700.1:g.36151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1241dup	ENSP00000507852.1:p.Glu415GlyfsTer?
ENST00000683395.1:c.1182dup
ENST00000684087.1:c.1205dup	ENSP00000506978.1:p.Glu403GlyfsTer?
ENST00000506362.2:c.956dup	ENSP00000424103.2:p.Glu320GlyfsTer?
ENST00000673642.1:c.864dup	ENSP00000501242.1:p.Gly289TrpfsTer?
ENST00000673991.1:c.1241dup	ENSP00000501033.1:p.Glu415GlyfsTer?
ENST00000226760.5:c.1205dup MANE Select	ENSP00000226760.1:p.Glu403GlyfsTer?
ENST00000503569.5:c.1205dup	ENSP00000423337.1:p.Glu403GlyfsTer?
ENST00000507765.1:n.1390dup
NM_001145853.1:c.1205dup	NP_001139325.1:p.Glu403GlyfsTer?
NM_006005.3:c.1205dup MANE Select	NP_005996.2:p.Glu403GlyfsTer?
XM_017008586.1:c.1214dup	XP_016864075.1:p.Glu406GlyfsTer?