Canonical Allele Identifier: CA2839387

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1453842
• ClinVar RCV Id: RCV001941578 ; RCV002507696 ; RCV002274237 ; RCV003336476
• dbSNP Id: rs781262017
• ExAC: 4:6303036 GCCTGCTCTATGTCTA / G
• gnomAD v2: 4-6303036-GCCTGCTCTATGTCTA-G
• gnomAD v4: 4-6301309-GCCTGCTCTATGTCTA-G
• MyVariant Identifiers: chr4:g.6303037_6303051del (hg19) ; chr4:g.6301310_6301324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301320_6301334del , CM000666.2:g.6301320_6301334del	GRCh38
NC_000004.11:g.6303047_6303061del , CM000666.1:g.6303047_6303061del	GRCh37
NC_000004.10:g.6353948_6353962del	NCBI36
NG_011700.1:g.36471_36485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1561_1575del	ENSP00000507852.1:p.Val521_Tyr525del
ENST00000683395.1:c.1502_1516del
ENST00000684087.1:c.1525_1539del	ENSP00000506978.1:p.Val509_Tyr513del
ENST00000506362.2:c.1276_1290del	ENSP00000424103.2:p.Val426_Tyr430del
ENST00000673642.1:c.1184_1198del	ENSP00000501242.1:p.Cys395_Leu399del
ENST00000673991.1:c.1561_1575del	ENSP00000501033.1:p.Val521_Tyr525del
ENST00000226760.5:c.1525_1539del MANE Select	ENSP00000226760.1:p.Val509_Tyr513del
ENST00000503569.5:c.1525_1539del	ENSP00000423337.1:p.Val509_Tyr513del
ENST00000507765.1:n.1710_1724del
NM_001145853.1:c.1525_1539del	NP_001139325.1:p.Val509_Tyr513del
NM_006005.3:c.1525_1539del MANE Select	NP_005996.2:p.Val509_Tyr513del
XM_017008586.1:c.1534_1548del	XP_016864075.1:p.Val512_Tyr516del