Canonical Allele Identifier: CA800701149

Gene: ADH5

Linked Data

• dbSNP Id: rs1383665998
• gnomAD v3: 4-99078208-TAG-T
• gnomAD v4: 4-99078208-TAG-T
• MyVariant Identifiers: chr4:g.99999360_99999361del (hg19) ; chr4:g.99078209_99078210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99078212_99078213del , CM000666.2:g.99078212_99078213del	GRCh38
NC_000004.11:g.99999363_99999364del , CM000666.1:g.99999363_99999364del	GRCh37
NC_000004.10:g.100218386_100218387del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296412.14:c.345-1287_345-1286del MANE Select	ENSP00000296412.8:n.345-1287_345-1286del
ENST00000296412.13:c.345-1287_345-1286del	ENSP00000296412.8:n.345-1287_345-1286del
ENST00000296412.12:c.345-1287_345-1286del	ENSP00000296412.8:n.345-1287_345-1286del
ENST00000502590.5:c.*25-1287_*25-1286del	ENSP00000422119.1:n.*25-1287_*25-1286del
ENST00000503130.5:c.306-1287_306-1286del	ENSP00000427049.1:n.306-1287_306-1286del
ENST00000505652.1:c.*169-1287_*169-1286del	ENSP00000421556.1:n.*169-1287_*169-1286del
ENST00000508511.5:n.362-1287_362-1286del
ENST00000512604.1:n.205-1287_205-1286del
ENST00000512621.5:n.333-1287_333-1286del
ENST00000512659.5:c.*32-1287_*32-1286del	ENSP00000424650.1:n.*32-1287_*32-1286del
ENST00000512991.5:n.543-1287_543-1286del
ENST00000626055.2:c.*32-1287_*32-1286del	ENSP00000487496.1:n.*32-1287_*32-1286del
NM_000671.4:c.345-1287_345-1286del MANE Select	NP_000662.3:n.345-1287_345-1286del