Canonical Allele Identifier: CA715671309
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1185405183
gnomAD v3: 15-74755357-AAAAAC-A
gnomAD v4: 15-74755357-AAAAAC-A
MyVariant Identifiers: chr15:g.75047699_75047703del (hg19) chr15:g.74755358_74755362del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755361_74755365del , CM000677.2:g.74755361_74755365del GRCh38
NC_000015.9:g.75047702_75047706del , CM000677.1:g.75047702_75047706del GRCh37
NC_000015.8:g.72834755_72834759del NCBI36
NG_008431.1:g.37820_37824del
NG_008431.2:g.37820_37824del
NG_061543.1:g.11517_11521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*273_*277del MANE Select ENSP00000342007.4:n.*273_*277del
ENST00000343932.4:c.*273_*277del ENSP00000342007.4:n.*273_*277del
NM_000761.4:c.*273_*277del NP_000752.2:n.*273_*277del
NM_000761.5:c.*273_*277del MANE Select NP_000752.2:n.*273_*277del
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