Canonical Allele Identifier: CA2671525114
Gene: ADH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420676del , CM000666.2:g.99420676del GRCh38
NC_000004.11:g.100341833del , CM000666.1:g.100341833del GRCh37
NC_000004.10:g.100560856del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.684del MANE Select ENSP00000414254.2:p.Lys228AsnfsTer8
ENST00000209665.8:c.720del ENSP00000209665.4:p.Lys240AsnfsTer8
ENST00000437033.6:c.684del ENSP00000414254.2:p.Lys228AsnfsTer8
ENST00000476959.5:c.744del ENSP00000420269.1:p.Lys248AsnfsTer8
ENST00000482593.5:c.513del ENSP00000420613.1:p.Lys171AsnfsTer8
NM_000673.4:c.720del NP_000664.2:p.Lys240AsnfsTer8
NM_001166504.1:c.744del NP_001159976.1:p.Lys248AsnfsTer8
NM_000673.7:c.684del MANE Select NP_000664.3:p.Lys228AsnfsTer8
NM_001166504.2:c.744del NP_001159976.1:p.Lys248AsnfsTer8