Canonical Allele Identifier: CA1479946590
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1733924997

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99317908_99317909del , CM000666.2:g.99317908_99317909del GRCh38
NC_000004.11:g.100239065_100239066del , CM000666.1:g.100239065_100239066del GRCh37
NC_000004.10:g.100458088_100458089del NCBI36
NG_011435.1:g.8508_8509del

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.259+138_259+139del MANE Select ENSP00000306606.8:n.259+138_259+139del
ENST00000639454.1:c.259+138_259+139del ENSP00000491622.1:n.259+138_259+139del
ENST00000305046.12:c.259+138_259+139del ENSP00000306606.8:n.259+138_259+139del
ENST00000504498.1:n.451_452del
ENST00000506651.5:c.139+138_139+139del ENSP00000425998.2:n.139+138_139+139del
ENST00000515694.4:n.2354+138_2354+139del
ENST00000625860.2:c.139+138_139+139del ENSP00000486614.1:n.139+138_139+139del
ENST00000632775.1:n.960_961del
NM_000668.5:c.259+138_259+139del NP_000659.2:n.259+138_259+139del
NM_001286650.1:c.139+138_139+139del NP_001273579.1:n.139+138_139+139del
NM_000668.6:c.259+138_259+139del MANE Select NP_000659.2:n.259+138_259+139del
NM_001286650.2:c.139+138_139+139del NP_001273579.1:n.139+138_139+139del