Canonical Allele Identifier: CA553101196

Gene: ADH1B

Linked Data

• dbSNP Id: rs1306310443
• gnomAD v2: 4-100239285-C-CA
• gnomAD v4: 4-99318128-C-CA
• MyVariant Identifiers: chr4:g.100239285_100239286insA (hg19) ; chr4:g.99318128_99318129insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318129dup , CM000666.2:g.99318129dup	GRCh38
NC_000004.11:g.100239286dup , CM000666.1:g.100239286dup	GRCh37
NC_000004.10:g.100458309dup	NCBI36
NG_011435.1:g.8287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.176dup MANE Select	ENSP00000306606.8:p.Thr60AspfsTer10
ENST00000639454.1:c.176dup	ENSP00000491622.1:p.Thr60AspfsTer10
ENST00000305046.12:c.176dup	ENSP00000306606.8:p.Thr60AspfsTer10
ENST00000504498.1:n.230dup
ENST00000506651.5:c.56dup	ENSP00000425998.2:p.Thr20AspfsTer10
ENST00000515694.4:n.2271dup
ENST00000625860.2:c.56dup	ENSP00000486614.1:p.Thr20AspfsTer10
ENST00000632775.1:n.739dup
NM_000668.5:c.176dup	NP_000659.2:p.Thr60AspfsTer10
NM_001286650.1:c.56dup	NP_001273579.1:p.Thr20AspfsTer10
NM_000668.6:c.176dup MANE Select	NP_000659.2:p.Thr60AspfsTer10
NM_001286650.2:c.56dup	NP_001273579.1:p.Thr20AspfsTer10