Canonical Allele Identifier: CA2187827302
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs2063333438
gnomAD v4: 15-74755353-AAAAAAAAACAAACAAAC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755362_74755378del , CM000677.2:g.74755362_74755378del GRCh38
NC_000015.9:g.75047703_75047719del , CM000677.1:g.75047703_75047719del GRCh37
NC_000015.8:g.72834756_72834772del NCBI36
NG_008431.1:g.37821_37837del
NG_008431.2:g.37821_37837del
NG_061543.1:g.11518_11534del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*274_*290del MANE Select ENSP00000342007.4:n.*274_*290del
ENST00000343932.4:c.*274_*290del ENSP00000342007.4:n.*274_*290del
NM_000761.4:c.*274_*290del NP_000752.2:n.*274_*290del
NM_000761.5:c.*274_*290del MANE Select NP_000752.2:n.*274_*290del
Search 100 bp 5'
Search 100 bp 3'