Canonical Allele Identifier: CA1946816759
Gene: CYP2E1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538823_133538827delinsGTTTC , CM000672.2:g.133538823_133538827delinsGTTTC GRCh38
NC_000010.10:g.135352327_135352331delinsGTTTC , CM000672.1:g.135352327_135352331delinsGTTTC GRCh37
NC_000010.9:g.135202317_135202321delinsGTTTC NCBI36
NG_008383.1:g.16461_16465delinsGTTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1341_1345delinsGTTTC MANE Select ENSP00000252945.3:p.Leu447=
ENST00000252945.7:c.1341_1345delinsGTTTC ENSP00000252945.3:p.Leu447=
ENST00000368520.1:n.1358+931_1358+935delinsGTTTC
ENST00000463117.6:c.1341_1345delinsGTTTC ENSP00000440689.1:p.Leu447=
ENST00000469258.1:n.437_441delinsGTTTC
NM_000773.3:c.1341_1345delinsGTTTC NP_000764.1:p.Leu447=
NM_000773.4:c.1341_1345delinsGTTTC MANE Select NP_000764.1:p.Leu447=
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Search 100 bp 3'