Canonical Allele Identifier: CA596746492
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1320720266
gnomAD v2: 10-135340684-CCAGGT-C
gnomAD v3: 10-133527180-CCAGGT-C
gnomAD v4: 10-133527180-CCAGGT-C
MyVariant Identifiers: chr10:g.135340685_135340689del (hg19) chr10:g.133527181_133527185del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133527183_133527187del , CM000672.2:g.133527183_133527187del GRCh38
NC_000010.10:g.135340687_135340691del , CM000672.1:g.135340687_135340691del GRCh37
NC_000010.9:g.135190677_135190681del NCBI36
NG_008383.1:g.4821_4825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463117.6:c.-39-174_-39-170del ENSP00000440689.1:n.-39-174_-39-170del
ENST00000541261.1:c.-39-174_-39-170del ENSP00000437799.1:n.-39-174_-39-170del
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