Canonical Allele Identifier: CA320989

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215407
• ClinVar RCV Id: RCV000196564 ; RCV002492910 ; RCV003126590
• dbSNP Id: rs863224266
• MyVariant Identifiers: chr4:g.6303353_6303354delinsTA (hg19) ; chr4:g.6301626_6301627delinsTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301626_6301627delinsTA , CM000666.2:g.6301626_6301627delinsTA	GRCh38
NC_000004.11:g.6303353_6303354delinsTA , CM000666.1:g.6303353_6303354delinsTA	GRCh37
NC_000004.10:g.6354254_6354255delinsTA	NCBI36
NG_011700.1:g.36777_36778delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1867_1868delinsTA	ENSP00000507852.1:p.Arg623Tyr
ENST00000683395.1:c.1808_1809delinsTA
ENST00000684087.1:c.1831_1832delinsTA	ENSP00000506978.1:p.Arg611Tyr
ENST00000506362.2:c.1582_1583delinsTA	ENSP00000424103.2:p.Arg528Tyr
ENST00000673642.1:c.1490_1491delinsTA	ENSP00000501242.1:n.1490_1491delinsTA
ENST00000673991.1:c.1867_1868delinsTA	ENSP00000501033.1:p.Arg623Tyr
ENST00000226760.5:c.1831_1832delinsTA MANE Select	ENSP00000226760.1:p.Arg611Tyr
ENST00000503569.5:c.1831_1832delinsTA	ENSP00000423337.1:p.Arg611Tyr
ENST00000507765.1:n.2016_2017delinsTA
NM_001145853.1:c.1831_1832delinsTA	NP_001139325.1:p.Arg611Tyr
NM_006005.3:c.1831_1832delinsTA MANE Select	NP_005996.2:p.Arg611Tyr
XM_017008586.1:c.1840_1841delinsTA	XP_016864075.1:p.Arg614Tyr