Canonical Allele Identifier: CA2629512122
Gene: CYP1A2 HGNC NCBI

Linked Data

gnomAD v4: 15-74755296-CTCTA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755297_74755300del , CM000677.2:g.74755297_74755300del GRCh38
NC_000015.9:g.75047638_75047641del , CM000677.1:g.75047638_75047641del GRCh37
NC_000015.8:g.72834691_72834694del NCBI36
NG_008431.1:g.37756_37759del
NG_008431.2:g.37756_37759del
NG_061543.1:g.11453_11456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*209_*212del MANE Select ENSP00000342007.4:n.*209_*212del
ENST00000343932.4:c.*209_*212del ENSP00000342007.4:n.*209_*212del
NM_000761.4:c.*209_*212del NP_000752.2:n.*209_*212del
NM_000761.5:c.*209_*212del MANE Select NP_000752.2:n.*209_*212del
Search 100 bp 5'
Search 100 bp 3'