Canonical Allele Identifier: CA549707915

Gene: WFS1

Linked Data

• dbSNP Id: rs1560420505
• gnomAD v2: 4-6303442-C-CA
• gnomAD v4: 4-6301715-C-CA
• MyVariant Identifiers: chr4:g.6303442_6303443insA (hg19) ; chr4:g.6301715_6301716insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301716dup , CM000666.2:g.6301716dup	GRCh38
NC_000004.11:g.6303443dup , CM000666.1:g.6303443dup	GRCh37
NC_000004.10:g.6354344dup	NCBI36
NG_011700.1:g.36867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1957dup	ENSP00000507852.1:p.Thr653AsnfsTer?
ENST00000683395.1:c.1898dup
ENST00000684087.1:c.1921dup	ENSP00000506978.1:p.Thr641AsnfsTer?
ENST00000506362.2:c.1672dup	ENSP00000424103.2:p.Thr558AsnfsTer?
ENST00000673642.1:c.1580dup	ENSP00000501242.1:n.1580dup
ENST00000673991.1:c.1957dup	ENSP00000501033.1:p.Thr653AsnfsTer?
ENST00000226760.5:c.1921dup MANE Select	ENSP00000226760.1:p.Thr641AsnfsTer?
ENST00000503569.5:c.1921dup	ENSP00000423337.1:p.Thr641AsnfsTer?
ENST00000507765.1:n.2106dup
NM_001145853.1:c.1921dup	NP_001139325.1:p.Thr641AsnfsTer?
NM_006005.3:c.1921dup MANE Select	NP_005996.2:p.Thr641AsnfsTer?
XM_017008586.1:c.1930dup	XP_016864075.1:p.Thr644AsnfsTer?