Canonical Allele Identifier: CA549707911

Gene: WFS1

Linked Data

• dbSNP Id: rs1465861018
• gnomAD v2: 4-6303140-T-TGGTGTGAGCTCTCCGTGGTCATCC
• gnomAD v4: 4-6301413-T-TGGTGTGAGCTCTCCGTGGTCATCC
• MyVariant Identifiers: chr4:g.6303140_6303141insGGTGTGAGCTCTCCGTGGTCATCC (hg19) ; chr4:g.6301413_6301414insGGTGTGAGCTCTCCGTGGTCATCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301414_6301437dup , CM000666.2:g.6301414_6301437dup	GRCh38
NC_000004.11:g.6303141_6303164dup , CM000666.1:g.6303141_6303164dup	GRCh37
NC_000004.10:g.6354042_6354065dup	NCBI36
NG_011700.1:g.36565_36588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1655_1678dup	ENSP00000507852.1:p.Ile559_Leu560insArgCysGluLeuSerValValIle
ENST00000683395.1:c.1596_1619dup
ENST00000684087.1:c.1619_1642dup	ENSP00000506978.1:p.Ile547_Leu548insArgCysGluLeuSerValValIle
ENST00000506362.2:c.1370_1393dup	ENSP00000424103.2:p.Ile464_Leu465insArgCysGluLeuSerValValIle
ENST00000673642.1:c.1278_1301dup	ENSP00000501242.1:n.1278_1301dup
ENST00000673991.1:c.1655_1678dup	ENSP00000501033.1:p.Ile559_Leu560insArgCysGluLeuSerValValIle
ENST00000226760.5:c.1619_1642dup MANE Select	ENSP00000226760.1:p.Ile547_Leu548insArgCysGluLeuSerValValIle
ENST00000503569.5:c.1619_1642dup	ENSP00000423337.1:p.Ile547_Leu548insArgCysGluLeuSerValValIle
ENST00000507765.1:n.1804_1827dup
NM_001145853.1:c.1619_1642dup	NP_001139325.1:p.Ile547_Leu548insArgCysGluLeuSerValValIle
NM_006005.3:c.1619_1642dup MANE Select	NP_005996.2:p.Ile547_Leu548insArgCysGluLeuSerValValIle
XM_017008586.1:c.1628_1651dup	XP_016864075.1:p.Ile550_Leu551insArgCysGluLeuSerValValIle