Canonical Allele Identifier: CA440300630

Gene: ADH1B

Linked Data

• COSMIC: COSM1426037
• MyVariant Identifiers: chr4:g.100239278del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318126del , CM000666.2:g.99318126del	GRCh38
NC_000004.11:g.100239283del , CM000666.1:g.100239283del	GRCh37
NC_000004.10:g.100458306del	NCBI36
NG_011435.1:g.8295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.184del MANE Select	ENSP00000306606.8:p.Leu62PhefsTer3
ENST00000639454.1:c.184del	ENSP00000491622.1:p.Leu62PhefsTer3
ENST00000305046.12:c.184del	ENSP00000306606.8:p.Leu62PhefsTer3
ENST00000504498.1:n.238del
ENST00000506651.5:c.64del	ENSP00000425998.2:p.Leu22PhefsTer3
ENST00000515694.4:n.2279del
ENST00000625860.2:c.64del	ENSP00000486614.1:p.Leu22PhefsTer3
ENST00000632775.1:n.747del
NM_000668.5:c.184del	NP_000659.2:p.Leu62PhefsTer3
NM_001286650.1:c.64del	NP_001273579.1:p.Leu22PhefsTer3
NM_000668.6:c.184del MANE Select	NP_000659.2:p.Leu62PhefsTer3
NM_001286650.2:c.64del	NP_001273579.1:p.Leu22PhefsTer3