Canonical Allele Identifier: CA1479942120
Gene: ADH1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307708_99307709delinsGA , CM000666.2:g.99307708_99307709delinsGA GRCh38
NC_000004.11:g.100228865_100228866delinsGA , CM000666.1:g.100228865_100228866delinsGA GRCh37
NC_000004.10:g.100447888_100447889delinsGA NCBI36
NG_011435.1:g.18707_18708delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*131_*132delinsTC MANE Select ENSP00000306606.8:n.*131_*132delinsTC
ENST00000305046.12:c.*131_*132delinsTC ENSP00000306606.8:n.*131_*132delinsTC
ENST00000506651.5:c.*131_*132delinsTC ENSP00000425998.2:n.*131_*132delinsTC
ENST00000515694.4:n.3354_3355delinsTC
ENST00000625860.2:c.*131_*132delinsTC ENSP00000486614.1:n.*131_*132delinsTC
NM_000668.5:c.*131_*132delinsTC NP_000659.2:n.*131_*132delinsTC
NM_001286650.1:c.*131_*132delinsTC NP_001273579.1:n.*131_*132delinsTC
NM_000668.6:c.*131_*132delinsTC MANE Select NP_000659.2:n.*131_*132delinsTC
NM_001286650.2:c.*131_*132delinsTC NP_001273579.1:n.*131_*132delinsTC