Canonical Allele Identifier: CA2669843453
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6301639-A-AG

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301641dup , CM000666.2:g.6301641dup GRCh38
NC_000004.11:g.6303368dup , CM000666.1:g.6303368dup GRCh37
NC_000004.10:g.6354269dup NCBI36
NG_011700.1:g.36792dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1882dup ENSP00000507852.1:p.Ala628GlyfsTer?
ENST00000683395.1:c.1823dup
ENST00000684087.1:c.1846dup ENSP00000506978.1:p.Ala616GlyfsTer?
ENST00000506362.2:c.1597dup ENSP00000424103.2:p.Ala533GlyfsTer?
ENST00000673642.1:c.1505dup ENSP00000501242.1:n.1505dup
ENST00000673991.1:c.1882dup ENSP00000501033.1:p.Ala628GlyfsTer?
ENST00000226760.5:c.1846dup MANE Select ENSP00000226760.1:p.Ala616GlyfsTer?
ENST00000503569.5:c.1846dup ENSP00000423337.1:p.Ala616GlyfsTer?
ENST00000507765.1:n.2031dup
NM_001145853.1:c.1846dup NP_001139325.1:p.Ala616GlyfsTer?
NM_006005.3:c.1846dup MANE Select NP_005996.2:p.Ala616GlyfsTer?
XM_017008586.1:c.1855dup XP_016864075.1:p.Ala619GlyfsTer?