Canonical Allele Identifier: CA2762793972
Gene: ADH1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99317996del , CM000666.2:g.99317996del GRCh38
NC_000004.11:g.100239153del , CM000666.1:g.100239153del GRCh37
NC_000004.10:g.100458176del NCBI36
NG_011435.1:g.8422del

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.259+52del MANE Select ENSP00000306606.8:n.259+52del
ENST00000639454.1:c.259+52del ENSP00000491622.1:n.259+52del
ENST00000305046.12:c.259+52del ENSP00000306606.8:n.259+52del
ENST00000504498.1:n.365del
ENST00000506651.5:c.139+52del ENSP00000425998.2:n.139+52del
ENST00000515694.4:n.2354+52del
ENST00000625860.2:c.139+52del ENSP00000486614.1:n.139+52del
ENST00000632775.1:n.874del
NM_000668.5:c.259+52del NP_000659.2:n.259+52del
NM_001286650.1:c.139+52del NP_001273579.1:n.139+52del
NM_000668.6:c.259+52del MANE Select NP_000659.2:n.259+52del
NM_001286650.2:c.139+52del NP_001273579.1:n.139+52del