Canonical Allele Identifier: CA2669843438
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6301282-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301284del , CM000666.2:g.6301284del GRCh38
NC_000004.11:g.6303011del , CM000666.1:g.6303011del GRCh37
NC_000004.10:g.6353912del NCBI36
NG_011700.1:g.36435del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1525del ENSP00000507852.1:p.Val509SerfsTer25
ENST00000683395.1:c.1466del
ENST00000684087.1:c.1489del ENSP00000506978.1:p.Val497SerfsTer25
ENST00000506362.2:c.1240del ENSP00000424103.2:p.Val414SerfsTer25
ENST00000673642.1:c.1148del ENSP00000501242.1:p.Gly383ValfsTer?
ENST00000673991.1:c.1525del ENSP00000501033.1:p.Val509SerfsTer25
ENST00000226760.5:c.1489del MANE Select ENSP00000226760.1:p.Val497SerfsTer25
ENST00000503569.5:c.1489del ENSP00000423337.1:p.Val497SerfsTer25
ENST00000507765.1:n.1674del
NM_001145853.1:c.1489del NP_001139325.1:p.Val497SerfsTer25
NM_006005.3:c.1489del MANE Select NP_005996.2:p.Val497SerfsTer25
XM_017008586.1:c.1498del XP_016864075.1:p.Val500SerfsTer25