Canonical Allele Identifier: CA2578151264
Gene: ADH1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318075del , CM000666.2:g.99318075del GRCh38
NC_000004.11:g.100239232del , CM000666.1:g.100239232del GRCh37
NC_000004.10:g.100458255del NCBI36
NG_011435.1:g.8342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.231del MANE Select ENSP00000306606.8:p.Gly78GlufsTer4
ENST00000639454.1:c.231del ENSP00000491622.1:p.Gly78GlufsTer4
ENST00000305046.12:c.231del ENSP00000306606.8:p.Gly78GlufsTer4
ENST00000504498.1:n.285del
ENST00000506651.5:c.111del ENSP00000425998.2:p.Gly38GlufsTer4
ENST00000515694.4:n.2326del
ENST00000625860.2:c.111del ENSP00000486614.1:p.Gly38GlufsTer4
ENST00000632775.1:n.794del
NM_000668.5:c.231del NP_000659.2:p.Gly78GlufsTer4
NM_001286650.1:c.111del NP_001273579.1:p.Gly38GlufsTer4
NM_000668.6:c.231del MANE Select NP_000659.2:p.Gly78GlufsTer4
NM_001286650.2:c.111del NP_001273579.1:p.Gly38GlufsTer4