Canonical Allele Identifier: CA553098084

Gene: ADH5

Linked Data

• dbSNP Id: rs1180271621
• gnomAD v2: 4-99999410-ATACTCT-A
• gnomAD v3: 4-99078259-ATACTCT-A
• gnomAD v4: 4-99078259-ATACTCT-A
• MyVariant Identifiers: chr4:g.99999411_99999416del (hg19) ; chr4:g.99078260_99078265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99078262_99078267del , CM000666.2:g.99078262_99078267del	GRCh38
NC_000004.11:g.99999413_99999418del , CM000666.1:g.99999413_99999418del	GRCh37
NC_000004.10:g.100218436_100218441del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296412.14:c.345-1342_345-1337del MANE Select	ENSP00000296412.8:n.345-1342_345-1337del
ENST00000296412.13:c.345-1342_345-1337del	ENSP00000296412.8:n.345-1342_345-1337del
ENST00000296412.12:c.345-1342_345-1337del	ENSP00000296412.8:n.345-1342_345-1337del
ENST00000502590.5:c.*25-1342_*25-1337del	ENSP00000422119.1:n.*25-1342_*25-1337del
ENST00000503130.5:c.306-1342_306-1337del	ENSP00000427049.1:n.306-1342_306-1337del
ENST00000505652.1:c.*169-1342_*169-1337del	ENSP00000421556.1:n.*169-1342_*169-1337del
ENST00000508511.5:n.362-1342_362-1337del
ENST00000512604.1:n.205-1342_205-1337del
ENST00000512621.5:n.333-1342_333-1337del
ENST00000512659.5:c.*32-1342_*32-1337del	ENSP00000424650.1:n.*32-1342_*32-1337del
ENST00000512991.5:n.543-1342_543-1337del
ENST00000626055.2:c.*32-1342_*32-1337del	ENSP00000487496.1:n.*32-1342_*32-1337del
NM_000671.4:c.345-1342_345-1337del MANE Select	NP_000662.3:n.345-1342_345-1337del