Canonical Allele Identifier: CA357479635
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318232_99318233del , CM000666.2:g.99318232_99318233del GRCh38
NC_000004.11:g.100239389_100239390del , CM000666.1:g.100239389_100239390del GRCh37
NC_000004.10:g.100458412_100458413del NCBI36
NG_011435.1:g.8184_8185del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.121-48_121-47del MANE Select ENSP00000306606.8:n.121-48_121-47del
ENST00000639454.1:c.121-48_121-47del ENSP00000491622.1:n.121-48_121-47del
ENST00000305046.12:c.121-48_121-47del ENSP00000306606.8:n.121-48_121-47del
ENST00000504498.1:n.175-48_175-47del
ENST00000506651.5:c.1-48_1-47del ENSP00000425998.2:n.1-48_1-47del
ENST00000515694.4:n.2216-48_2216-47del
ENST00000625860.2:c.1-48_1-47del ENSP00000486614.1:n.1-48_1-47del
ENST00000632775.1:n.636_637del
NM_000668.5:c.121-48_121-47del NP_000659.2:n.121-48_121-47del
NM_001286650.1:c.1-48_1-47del NP_001273579.1:n.1-48_1-47del
NM_000668.6:c.121-48_121-47del MANE Select NP_000659.2:n.121-48_121-47del
NM_001286650.2:c.1-48_1-47del NP_001273579.1:n.1-48_1-47del