Canonical Allele Identifier: CA553098087

Gene: ADH5

Linked Data

• dbSNP Id: rs1173349648
• gnomAD v2: 4-99999435-CATATGAATAAAT-C
• gnomAD v3: 4-99078284-CATATGAATAAAT-C
• gnomAD v4: 4-99078284-CATATGAATAAAT-C
• MyVariant Identifiers: chr4:g.99999436_99999447del (hg19) ; chr4:g.99078285_99078296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99078288_99078299del , CM000666.2:g.99078288_99078299del	GRCh38
NC_000004.11:g.99999439_99999450del , CM000666.1:g.99999439_99999450del	GRCh37
NC_000004.10:g.100218462_100218473del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296412.14:c.345-1373_345-1362del MANE Select	ENSP00000296412.8:n.345-1373_345-1362del
ENST00000296412.13:c.345-1373_345-1362del	ENSP00000296412.8:n.345-1373_345-1362del
ENST00000296412.12:c.345-1373_345-1362del	ENSP00000296412.8:n.345-1373_345-1362del
ENST00000502590.5:c.*25-1373_*25-1362del	ENSP00000422119.1:n.*25-1373_*25-1362del
ENST00000503130.5:c.306-1373_306-1362del	ENSP00000427049.1:n.306-1373_306-1362del
ENST00000505652.1:c.*169-1373_*169-1362del	ENSP00000421556.1:n.*169-1373_*169-1362del
ENST00000508511.5:n.362-1373_362-1362del
ENST00000512604.1:n.205-1373_205-1362del
ENST00000512621.5:n.333-1373_333-1362del
ENST00000512659.5:c.*32-1373_*32-1362del	ENSP00000424650.1:n.*32-1373_*32-1362del
ENST00000512991.5:n.543-1373_543-1362del
ENST00000626055.2:c.*32-1373_*32-1362del	ENSP00000487496.1:n.*32-1373_*32-1362del
NM_000671.4:c.345-1373_345-1362del MANE Select	NP_000662.3:n.345-1373_345-1362del