Canonical Allele Identifier: CA1065903476

Gene: ADH1B

Linked Data

• gnomAD v3: 4-99318049-G-GT
• gnomAD v4: 4-99318049-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318052dup , CM000666.2:g.99318052dup	GRCh38
NC_000004.11:g.100239209dup , CM000666.1:g.100239209dup	GRCh37
NC_000004.10:g.100458232dup	NCBI36
NG_011435.1:g.8366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.255dup MANE Select	ENSP00000306606.8:p.Pro86ThrfsTer3
ENST00000639454.1:c.255dup	ENSP00000491622.1:p.Pro86ThrfsTer3
ENST00000305046.12:c.255dup	ENSP00000306606.8:p.Pro86ThrfsTer3
ENST00000504498.1:n.309dup
ENST00000506651.5:c.135dup	ENSP00000425998.2:p.Pro46ThrfsTer3
ENST00000515694.4:n.2350dup
ENST00000625860.2:c.135dup	ENSP00000486614.1:p.Pro46ThrfsTer3
ENST00000632775.1:n.818dup
NM_000668.5:c.255dup	NP_000659.2:p.Pro86ThrfsTer3
NM_001286650.1:c.135dup	NP_001273579.1:p.Pro46ThrfsTer3
NM_000668.6:c.255dup MANE Select	NP_000659.2:p.Pro86ThrfsTer3
NM_001286650.2:c.135dup	NP_001273579.1:p.Pro46ThrfsTer3