Canonical Allele Identifier: CA1946816747
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1851439134
gnomAD v4: 10-133538820-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538822del , CM000672.2:g.133538822del GRCh38
NC_000010.10:g.135352326del , CM000672.1:g.135352326del GRCh37
NC_000010.9:g.135202316del NCBI36
NG_008383.1:g.16460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1340del MANE Select ENSP00000252945.3:p.Leu447CysfsTer14
ENST00000252945.7:c.1340del ENSP00000252945.3:p.Leu447CysfsTer14
ENST00000368520.1:n.1358+930del
ENST00000463117.6:c.1340del ENSP00000440689.1:p.Leu447CysfsTer14
ENST00000469258.1:n.436del
NM_000773.3:c.1340del NP_000764.1:p.Leu447CysfsTer14
NM_000773.4:c.1340del MANE Select NP_000764.1:p.Leu447CysfsTer14
Search 100 bp 5'
Search 100 bp 3'