Canonical Allele Identifier: CA2629512137
Gene: CYP1A2 HGNC NCBI

Linked Data

gnomAD v4: 15-74755301-CAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755310_74755311del , CM000677.2:g.74755310_74755311del GRCh38
NC_000015.9:g.75047651_75047652del , CM000677.1:g.75047651_75047652del GRCh37
NC_000015.8:g.72834704_72834705del NCBI36
NG_008431.1:g.37769_37770del
NG_008431.2:g.37769_37770del
NG_061543.1:g.11466_11467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*222_*223del MANE Select ENSP00000342007.4:n.*222_*223del
ENST00000343932.4:c.*222_*223del ENSP00000342007.4:n.*222_*223del
NM_000761.4:c.*222_*223del NP_000752.2:n.*222_*223del
NM_000761.5:c.*222_*223del MANE Select NP_000752.2:n.*222_*223del
Search 100 bp 5'
Search 100 bp 3'