Canonical Allele Identifier: CA1946817178
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1851444111
gnomAD v4: 10-133538993-CTTTCAAACAAGT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133539001_133539012del , CM000672.2:g.133539001_133539012del GRCh38
NC_000010.10:g.135352505_135352516del , CM000672.1:g.135352505_135352516del GRCh37
NC_000010.9:g.135202495_135202506del NCBI36
NG_008383.1:g.16639_16650del

Transcript Alleles

HGVS Amino-acid change
ENST00000252945.8:c.*37_*48del MANE Select ENSP00000252945.3:n.*37_*48del
ENST00000252945.7:c.*37_*48del ENSP00000252945.3:n.*37_*48del
ENST00000368520.1:n.1358+1109_1358+1120del
ENST00000463117.6:c.*37_*48del ENSP00000440689.1:n.*37_*48del
ENST00000469258.1:n.615_626del
NM_000773.3:c.*37_*48del NP_000764.1:n.*37_*48del
NM_000773.4:c.*37_*48del MANE Select NP_000764.1:n.*37_*48del
Search 100 bp 5'
Search 100 bp 3'