Canonical Allele Identifier: CA2839390

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2203521
• ClinVar RCV Id: RCV002651809
• dbSNP Id: rs770006924
• ExAC: 4:6303047 GTCTACCTGCTCTATC / G
• gnomAD v2: 4-6303047-GTCTACCTGCTCTATC-G
• gnomAD v4: 4-6301320-GTCTACCTGCTCTATC-G
• MyVariant Identifiers: chr4:g.6303048_6303062del (hg19) ; chr4:g.6301321_6301335del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301324_6301338del , CM000666.2:g.6301324_6301338del	GRCh38
NC_000004.11:g.6303051_6303065del , CM000666.1:g.6303051_6303065del	GRCh37
NC_000004.10:g.6353952_6353966del	NCBI36
NG_011700.1:g.36475_36489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1565_1579del	ENSP00000507852.1:p.Tyr522_Leu526del
ENST00000683395.1:c.1506_1520del
ENST00000684087.1:c.1529_1543del	ENSP00000506978.1:p.Tyr510_Leu514del
ENST00000506362.2:c.1280_1294del	ENSP00000424103.2:p.Tyr427_Leu431del
ENST00000673642.1:c.1188_1202del	ENSP00000501242.1:p.Pro397_Leu401del
ENST00000673991.1:c.1565_1579del	ENSP00000501033.1:p.Tyr522_Leu526del
ENST00000226760.5:c.1529_1543del MANE Select	ENSP00000226760.1:p.Tyr510_Leu514del
ENST00000503569.5:c.1529_1543del	ENSP00000423337.1:p.Tyr510_Leu514del
ENST00000507765.1:n.1714_1728del
NM_001145853.1:c.1529_1543del	NP_001139325.1:p.Tyr510_Leu514del
NM_006005.3:c.1529_1543del MANE Select	NP_005996.2:p.Tyr510_Leu514del
XM_017008586.1:c.1538_1552del	XP_016864075.1:p.Tyr513_Leu517del