Canonical Allele Identifier: CA1065903359

Gene: ADH1B

Linked Data

• gnomAD v3: 4-99317804-CCTGGTGCCTGGCTTCTAGTAGATACTCGGTACATAATGGTTGAAGGGTACAATACATGAGTGCCTGAATGCATACATGCTTGGGTCAGGCAGGCAGAGAGGGAAAGAGGAAACT-C
• gnomAD v4: 4-99317804-CCTGGTGCCTGGCTTCTAGTAGATACTCGGTACATAATGGTTGAAGGGTACAATACATGAGTGCCTGAATGCATACATGCTTGGGTCAGGCAGGCAGAGAGGGAAAGAGGAAACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99317806_99317919del , CM000666.2:g.99317806_99317919del	GRCh38
NC_000004.11:g.100238963_100239076del , CM000666.1:g.100238963_100239076del	GRCh37
NC_000004.10:g.100457986_100458099del	NCBI36
NG_011435.1:g.8498_8611del

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.259+128_259+241del MANE Select	ENSP00000306606.8:n.259+128_259+241del
ENST00000639454.1:c.259+128_259+241del	ENSP00000491622.1:n.259+128_259+241del
ENST00000305046.12:c.259+128_259+241del	ENSP00000306606.8:n.259+128_259+241del
ENST00000504498.1:n.441_554del
ENST00000506651.5:c.139+128_139+241del	ENSP00000425998.2:n.139+128_139+241del
ENST00000515694.4:n.2354+128_2354+241del
ENST00000625860.2:c.139+128_139+241del	ENSP00000486614.1:n.139+128_139+241del
ENST00000632775.1:n.950_1063del
NM_000668.5:c.259+128_259+241del	NP_000659.2:n.259+128_259+241del
NM_001286650.1:c.139+128_139+241del	NP_001273579.1:n.139+128_139+241del
NM_000668.6:c.259+128_259+241del MANE Select	NP_000659.2:n.259+128_259+241del
NM_001286650.2:c.139+128_139+241del	NP_001273579.1:n.139+128_139+241del