Canonical Allele Identifier: CA2611616956

Gene: CYP2E1

Linked Data

• gnomAD v4: 10-133539095-T-TGCAGGCCCTCGCCACCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133539095_133539096insGCAGGCCCTCGCCACCTGC , CM000672.2:g.133539095_133539096insGCAGGCCCTCGCCACCTGC	GRCh38
NC_000010.10:g.135352599_135352600insGCAGGCCCTCGCCACCTGC , CM000672.1:g.135352599_135352600insGCAGGCCCTCGCCACCTGC	GRCh37
NC_000010.9:g.135202589_135202590insGCAGGCCCTCGCCACCTGC	NCBI36
NG_008383.1:g.16733_16734insGCAGGCCCTCGCCACCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.*131_*132insGCAGGCCCTCGCCACCTGC MANE Select	ENSP00000252945.3:n.*131_*132insGCAGGCCCTCGCCACCTGC
ENST00000252945.7:c.*131_*132insGCAGGCCCTCGCCACCTGC	ENSP00000252945.3:n.*131_*132insGCAGGCCCTCGCCACCTGC
ENST00000368520.1:n.1358+1203_1358+1204insGCAGGCCCTCGCCACCTGC
ENST00000463117.6:c.*131_*132insGCAGGCCCTCGCCACCTGC	ENSP00000440689.1:n.*131_*132insGCAGGCCCTCGCCACCTGC
ENST00000469258.1:n.709_710insGCAGGCCCTCGCCACCTGC
NM_000773.3:c.*131_*132insGCAGGCCCTCGCCACCTGC	NP_000764.1:n.*131_*132insGCAGGCCCTCGCCACCTGC
NM_000773.4:c.*131_*132insGCAGGCCCTCGCCACCTGC MANE Select	NP_000764.1:n.*131_*132insGCAGGCCCTCGCCACCTGC