Canonical Allele Identifier: CA596749374
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1220367280
gnomAD v2: 10-135352707-TGAGAG-T
gnomAD v3: 10-133539203-TGAGAG-T
gnomAD v4: 10-133539203-TGAGAG-T
MyVariant Identifiers: chr10:g.135352708_135352712del (hg19) chr10:g.135352708_135352718delinsTTTTGC (hg19) chr10:g.133539204_133539208del (hg38) chr10:g.133539204_133539214delinsTTTTGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133539204_133539208del , CM000672.2:g.133539204_133539208del GRCh38
NC_000010.10:g.135352708_135352712del , CM000672.1:g.135352708_135352712del GRCh37
NC_000010.9:g.135202698_135202702del NCBI36
NG_008383.1:g.16842_16846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368520.1:n.1358+1312_1358+1316del
Search 100 bp 5'
Search 100 bp 3'