Canonical Allele Identifier: CA2578035837
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6301551-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301554dup , CM000666.2:g.6301554dup GRCh38
NC_000004.11:g.6303281dup , CM000666.1:g.6303281dup GRCh37
NC_000004.10:g.6354182dup NCBI36
NG_011700.1:g.36705dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1795dup ENSP00000507852.1:p.Arg599ProfsTer19
ENST00000683395.1:c.1736dup
ENST00000684087.1:c.1759dup ENSP00000506978.1:p.Arg587ProfsTer19
ENST00000506362.2:c.1510dup ENSP00000424103.2:p.Arg504ProfsTer19
ENST00000673642.1:c.1418dup ENSP00000501242.1:n.1418dup
ENST00000673991.1:c.1795dup ENSP00000501033.1:p.Arg599ProfsTer19
ENST00000226760.5:c.1759dup MANE Select ENSP00000226760.1:p.Arg587ProfsTer19
ENST00000503569.5:c.1759dup ENSP00000423337.1:p.Arg587ProfsTer19
ENST00000507765.1:n.1944dup
NM_001145853.1:c.1759dup NP_001139325.1:p.Arg587ProfsTer19
NM_006005.3:c.1759dup MANE Select NP_005996.2:p.Arg587ProfsTer19
XM_017008586.1:c.1768dup XP_016864075.1:p.Arg590ProfsTer19