Canonical Allele Identifier: CA1479946724
Gene: ADH1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318178_99318180delinsCCA , CM000666.2:g.99318178_99318180delinsCCA GRCh38
NC_000004.11:g.100239335_100239337delinsCCA , CM000666.1:g.100239335_100239337delinsCCA GRCh37
NC_000004.10:g.100458358_100458360delinsCCA NCBI36
NG_011435.1:g.8236_8238delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.125_127delinsTGG MANE Select ENSP00000306606.8:p.Val42=
ENST00000639454.1:c.125_127delinsTGG ENSP00000491622.1:p.Val42=
ENST00000305046.12:c.125_127delinsTGG ENSP00000306606.8:p.Val42=
ENST00000504498.1:n.179_181delinsTGG
ENST00000506651.5:c.5_7delinsTGG ENSP00000425998.2:p.Val2=
ENST00000515694.4:n.2220_2222delinsTGG
ENST00000625860.2:c.5_7delinsTGG ENSP00000486614.1:p.Val2=
ENST00000632775.1:n.688_690delinsTGG
NM_000668.5:c.125_127delinsTGG NP_000659.2:p.Val42=
NM_001286650.1:c.5_7delinsTGG NP_001273579.1:p.Val2=
NM_000668.6:c.125_127delinsTGG MANE Select NP_000659.2:p.Val42=
NM_001286650.2:c.5_7delinsTGG NP_001273579.1:p.Val2=