Canonical Allele Identifier: CA645569062
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538775_133538777del , CM000672.2:g.133538775_133538777del GRCh38
NC_000010.10:g.135352279_135352281del , CM000672.1:g.135352279_135352281del GRCh37
NC_000010.9:g.135202269_135202271del NCBI36
NG_008383.1:g.16413_16415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1298-5_1298-3del MANE Select ENSP00000252945.3:n.1298-5_1298-3del
ENST00000252945.7:c.1298-5_1298-3del ENSP00000252945.3:n.1298-5_1298-3del
ENST00000368520.1:n.1358+883_1358+885del
ENST00000418356.1:c.887-5_887-3del ENSP00000397299.1:n.887-5_887-3del
ENST00000421586.5:c.1037-5_1037-3del ENSP00000412754.1:n.1037-5_1037-3del
ENST00000463117.6:c.1298-5_1298-3del ENSP00000440689.1:n.1298-5_1298-3del
ENST00000469258.1:n.394-5_394-3del
ENST00000541080.5:c.714-5_714-3del
NM_000773.3:c.1298-5_1298-3del NP_000764.1:n.1298-5_1298-3del
NM_000773.4:c.1298-5_1298-3del MANE Select NP_000764.1:n.1298-5_1298-3del