Canonical Allele Identifier: CA3020040
Gene: ADH1B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99318064del
GRCh37 chr4:g.100239221del
gnomAD v2:
4:100239220 AC / A
gnomAD v3:
4:99318063 AC / A
gnomAD v4:
chr4-99318063-AC-A
Joint Max Group AF 0.00004286 (AMR)
Genomes Max Group AF 0.00002266 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318067del , CM000666.2:g.99318067del GRCh38
NC_000004.11:g.100239224del , CM000666.1:g.100239224del GRCh37
NC_000004.10:g.100458247del NCBI36
NG_011435.1:g.8352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.241del MANE Select ENSP00000306606.8:p.Val81Ter
ENST00000639454.1:c.241del ENSP00000491622.1:p.Val81Ter
ENST00000305046.12:c.241del ENSP00000306606.8:p.Val81Ter
ENST00000504498.1:n.295del
ENST00000506651.5:c.121del ENSP00000425998.2:p.Val41Ter
ENST00000515694.4:n.2336del
ENST00000625860.2:c.121del ENSP00000486614.1:p.Val41Ter
ENST00000632775.1:n.804del
NM_000668.5:c.241del NP_000659.2:p.Val81Ter
NM_001286650.1:c.121del NP_001273579.1:p.Val41Ter
NM_000668.6:c.241del MANE Select NP_000659.2:p.Val81Ter
NM_001286650.2:c.121del NP_001273579.1:p.Val41Ter
Search 100 bp 5'
Search 100 bp 3'