Canonical Allele Identifier: CA2671520124

Gene: ADH1B

Linked Data

• gnomAD v4: 4-99318031-GTGTGAATCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318035_99318043del , CM000666.2:g.99318035_99318043del	GRCh38
NC_000004.11:g.100239192_100239200del , CM000666.1:g.100239192_100239200del	GRCh37
NC_000004.10:g.100458215_100458223del	NCBI36
NG_011435.1:g.8376_8384del

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.259+6_259+14del MANE Select	ENSP00000306606.8:n.259+6_259+14del
ENST00000639454.1:c.259+6_259+14del	ENSP00000491622.1:n.259+6_259+14del
ENST00000305046.12:c.259+6_259+14del	ENSP00000306606.8:n.259+6_259+14del
ENST00000504498.1:n.319_327del
ENST00000506651.5:c.139+6_139+14del	ENSP00000425998.2:n.139+6_139+14del
ENST00000515694.4:n.2354+6_2354+14del
ENST00000625860.2:c.139+6_139+14del	ENSP00000486614.1:n.139+6_139+14del
ENST00000632775.1:n.828_836del
NM_000668.5:c.259+6_259+14del	NP_000659.2:n.259+6_259+14del
NM_001286650.1:c.139+6_139+14del	NP_001273579.1:n.139+6_139+14del
NM_000668.6:c.259+6_259+14del MANE Select	NP_000659.2:n.259+6_259+14del
NM_001286650.2:c.139+6_139+14del	NP_001273579.1:n.139+6_139+14del