Canonical Allele Identifier: CA277124

Gene: WFS1

Linked Data

• ClinVar Variation Id: 212611
• ClinVar RCV Id: RCV000193337 ; RCV001853123
• dbSNP Id: rs797046112
• gnomAD v2: 4-6302756-GTCT-G
• gnomAD v3: 4-6301029-GTCT-G
• gnomAD v4: 4-6301029-GTCT-G
• MyVariant Identifiers: chr4:g.6302762_6302764del (hg19) ; chr4:g.6302757_6302759del (hg19) ; chr4:g.6301035_6301037del (hg38) ; chr4:g.6301030_6301032del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301035_6301037del , CM000666.2:g.6301035_6301037del	GRCh38
NC_000004.11:g.6302762_6302764del , CM000666.1:g.6302762_6302764del	GRCh37
NC_000004.10:g.6353663_6353665del	NCBI36
NG_011700.1:g.36186_36188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1276_1278del	ENSP00000507852.1:p.Phe426del
ENST00000683395.1:c.1217_1219del
ENST00000684087.1:c.1240_1242del	ENSP00000506978.1:p.Phe414del
ENST00000506362.2:c.991_993del	ENSP00000424103.2:p.Phe331del
ENST00000673642.1:c.899_901del	ENSP00000501242.1:p.Leu300del
ENST00000673991.1:c.1276_1278del	ENSP00000501033.1:p.Phe426del
ENST00000226760.5:c.1240_1242del MANE Select	ENSP00000226760.1:p.Phe414del
ENST00000503569.5:c.1240_1242del	ENSP00000423337.1:p.Phe414del
ENST00000507765.1:n.1425_1427del
NM_001145853.1:c.1240_1242del	NP_001139325.1:p.Phe414del
NM_006005.3:c.1240_1242del MANE Select	NP_005996.2:p.Phe414del
XM_017008586.1:c.1249_1251del	XP_016864075.1:p.Phe417del