Canonical Allele Identifier: CA553106215
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1345054401
gnomAD v2: 4-100228973-AC-A
gnomAD v3: 4-99307816-AC-A
gnomAD v4: 4-99307816-AC-A
MyVariant Identifiers: chr4:g.100228974del (hg19) chr4:g.99307817del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307817del , CM000666.2:g.99307817del GRCh38
NC_000004.11:g.100228974del , CM000666.1:g.100228974del GRCh37
NC_000004.10:g.100447997del NCBI36
NG_011435.1:g.18599del

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.*23del MANE Select ENSP00000306606.8:n.*23del
ENST00000305046.12:c.*23del ENSP00000306606.8:n.*23del
ENST00000506651.5:c.*23del ENSP00000425998.2:n.*23del
ENST00000515694.4:n.3246del
ENST00000625860.2:c.*23del ENSP00000486614.1:n.*23del
NM_000668.5:c.*23del NP_000659.2:n.*23del
NM_001286650.1:c.*23del NP_001273579.1:n.*23del
NM_000668.6:c.*23del MANE Select NP_000659.2:n.*23del
NM_001286650.2:c.*23del NP_001273579.1:n.*23del
Search 100 bp 5'
Search 100 bp 3'