Canonical Allele Identifier: CA2611616613
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133532108_133532111del , CM000672.2:g.133532108_133532111del GRCh38
NC_000010.10:g.135345612_135345615del , CM000672.1:g.135345612_135345615del GRCh37
NC_000010.9:g.135195602_135195605del NCBI36
NG_008383.1:g.9746_9749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.488-16_488-13del MANE Select ENSP00000252945.3:n.488-16_488-13del
ENST00000252945.7:c.488-16_488-13del ENSP00000252945.3:n.488-16_488-13del
ENST00000368520.1:n.533_536del
ENST00000418356.1:c.77-16_77-13del ENSP00000397299.1:n.77-16_77-13del
ENST00000421586.5:c.227-16_227-13del ENSP00000412754.1:n.227-16_227-13del
ENST00000463117.6:c.488-16_488-13del ENSP00000440689.1:n.488-16_488-13del
ENST00000477500.5:n.448+374_448+377del
ENST00000480558.1:n.713-16_713-13del
ENST00000541080.5:c.226+374_226+377del
NM_000773.3:c.488-16_488-13del NP_000764.1:n.488-16_488-13del
NM_000773.4:c.488-16_488-13del MANE Select NP_000764.1:n.488-16_488-13del