Canonical Allele Identifier: CA1946816768
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1851439270
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538828_133538829insGC , CM000672.2:g.133538828_133538829insGC GRCh38
NC_000010.10:g.135352332_135352333insGC , CM000672.1:g.135352332_135352333insGC GRCh37
NC_000010.9:g.135202322_135202323insGC NCBI36
NG_008383.1:g.16466_16467insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1346_1347insGC MANE Select ENSP00000252945.3:p.Leu451CysfsTer11
ENST00000252945.7:c.1346_1347insGC ENSP00000252945.3:p.Leu451CysfsTer11
ENST00000368520.1:n.1358+936_1358+937insGC
ENST00000463117.6:c.1346_1347insGC ENSP00000440689.1:p.Leu451CysfsTer11
ENST00000469258.1:n.442_443insGC
NM_000773.3:c.1346_1347insGC NP_000764.1:p.Leu451CysfsTer11
NM_000773.4:c.1346_1347insGC MANE Select NP_000764.1:p.Leu451CysfsTer11
Search 100 bp 5'
Search 100 bp 3'