Canonical Allele Identifier: CA549707912

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1492631
• ClinVar RCV Id: RCV002012460
• dbSNP Id: rs771936108
• gnomAD v2: 4-6303659-G-GACAACAGCGCCGAGTCTGCCATCA
• gnomAD v4: 4-6301932-G-GACAACAGCGCCGAGTCTGCCATCA
• MyVariant Identifiers: chr4:g.6303683_6303684insACAACAGCGCCGAGTCTGCCATCA (hg19) ; chr4:g.6301956_6301957insACAACAGCGCCGAGTCTGCCATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301936_6301959dup , CM000666.2:g.6301936_6301959dup	GRCh38
NC_000004.11:g.6303663_6303686dup , CM000666.1:g.6303663_6303686dup	GRCh37
NC_000004.10:g.6354564_6354587dup	NCBI36
NG_011700.1:g.37087_37110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2177_2200dup	ENSP00000507852.1:p.Asn733_Met734insAsnSerAlaGluSerAlaIleAsn
ENST00000683395.1:c.2118_2141dup
ENST00000684087.1:c.2141_2164dup	ENSP00000506978.1:p.Asn721_Met722insAsnSerAlaGluSerAlaIleAsn
ENST00000506362.2:c.1892_1915dup	ENSP00000424103.2:p.Asn638_Met639insAsnSerAlaGluSerAlaIleAsn
ENST00000673642.1:c.1800_1823dup	ENSP00000501242.1:n.1800_1823dup
ENST00000673991.1:c.2177_2200dup	ENSP00000501033.1:p.Asn733_Met734insAsnSerAlaGluSerAlaIleAsn
ENST00000226760.5:c.2141_2164dup MANE Select	ENSP00000226760.1:p.Asn721_Met722insAsnSerAlaGluSerAlaIleAsn
ENST00000503569.5:c.2141_2164dup	ENSP00000423337.1:p.Asn721_Met722insAsnSerAlaGluSerAlaIleAsn
ENST00000507765.1:n.2326_2349dup
NM_001145853.1:c.2141_2164dup	NP_001139325.1:p.Asn721_Met722insAsnSerAlaGluSerAlaIleAsn
NM_006005.3:c.2141_2164dup MANE Select	NP_005996.2:p.Asn721_Met722insAsnSerAlaGluSerAlaIleAsn
XM_017008586.1:c.2150_2173dup	XP_016864075.1:p.Asn724_Met725insAsnSerAlaGluSerAlaIleAsn