Canonical Allele Identifier: CA2669843450
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6301530-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301531del , CM000666.2:g.6301531del GRCh38
NC_000004.11:g.6303258del , CM000666.1:g.6303258del GRCh37
NC_000004.10:g.6354159del NCBI36
NG_011700.1:g.36682del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1772del ENSP00000507852.1:p.Leu591ArgfsTer?
ENST00000683395.1:c.1713del
ENST00000684087.1:c.1736del ENSP00000506978.1:p.Leu579ArgfsTer?
ENST00000506362.2:c.1487del ENSP00000424103.2:p.Leu496ArgfsTer?
ENST00000673642.1:c.1395del ENSP00000501242.1:n.1395del
ENST00000673991.1:c.1772del ENSP00000501033.1:p.Leu591ArgfsTer?
ENST00000226760.5:c.1736del MANE Select ENSP00000226760.1:p.Leu579ArgfsTer?
ENST00000503569.5:c.1736del ENSP00000423337.1:p.Leu579ArgfsTer?
ENST00000507765.1:n.1921del
NM_001145853.1:c.1736del NP_001139325.1:p.Leu579ArgfsTer?
NM_006005.3:c.1736del MANE Select NP_005996.2:p.Leu579ArgfsTer?
XM_017008586.1:c.1745del XP_016864075.1:p.Leu582ArgfsTer?