Canonical Allele Identifier: CA2611616722
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538896_133538908del , CM000672.2:g.133538896_133538908del GRCh38
NC_000010.10:g.135352400_135352412del , CM000672.1:g.135352400_135352412del GRCh37
NC_000010.9:g.135202390_135202402del NCBI36
NG_008383.1:g.16534_16546del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1414_1426del MANE Select ENSP00000252945.3:p.Ser472LeufsTer?
ENST00000252945.7:c.1414_1426del ENSP00000252945.3:p.Ser472LeufsTer?
ENST00000368520.1:n.1358+1004_1358+1016del
ENST00000463117.6:c.1414_1426del ENSP00000440689.1:p.Ser472LeufsTer?
ENST00000469258.1:n.510_522del
NM_000773.3:c.1414_1426del NP_000764.1:p.Ser472LeufsTer?
NM_000773.4:c.1414_1426del MANE Select NP_000764.1:p.Ser472LeufsTer?