Canonical Allele Identifier: CA553098089

Gene: ADH5

Linked Data

• dbSNP Id: rs1330313438
• gnomAD v2: 4-99999531-CAAAG-C
• gnomAD v3: 4-99078380-CAAAG-C
• gnomAD v4: 4-99078380-CAAAG-C
• MyVariant Identifiers: chr4:g.99999532_99999535del (hg19) ; chr4:g.99078381_99078384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99078383_99078386del , CM000666.2:g.99078383_99078386del	GRCh38
NC_000004.11:g.99999534_99999537del , CM000666.1:g.99999534_99999537del	GRCh37
NC_000004.10:g.100218557_100218560del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296412.14:c.345-1461_345-1458del MANE Select	ENSP00000296412.8:n.345-1461_345-1458del
ENST00000296412.13:c.345-1461_345-1458del	ENSP00000296412.8:n.345-1461_345-1458del
ENST00000296412.12:c.345-1461_345-1458del	ENSP00000296412.8:n.345-1461_345-1458del
ENST00000502590.5:c.*25-1461_*25-1458del	ENSP00000422119.1:n.*25-1461_*25-1458del
ENST00000503130.5:c.306-1461_306-1458del	ENSP00000427049.1:n.306-1461_306-1458del
ENST00000505652.1:c.*168+1436_*168+1439del	ENSP00000421556.1:n.*168+1436_*168+1439del
ENST00000508511.5:n.362-1461_362-1458del
ENST00000512604.1:n.204+1436_204+1439del
ENST00000512621.5:n.333-1461_333-1458del
ENST00000512659.5:c.*32-1461_*32-1458del	ENSP00000424650.1:n.*32-1461_*32-1458del
ENST00000512991.5:n.543-1461_543-1458del
ENST00000626055.2:c.*32-1461_*32-1458del	ENSP00000487496.1:n.*32-1461_*32-1458del
NM_000671.4:c.345-1461_345-1458del MANE Select	NP_000662.3:n.345-1461_345-1458del