Canonical Allele Identifier: CA2187827270
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs2063333171
gnomAD v4: 15-74755300-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755301del , CM000677.2:g.74755301del GRCh38
NC_000015.9:g.75047642del , CM000677.1:g.75047642del GRCh37
NC_000015.8:g.72834695del NCBI36
NG_008431.1:g.37760del
NG_008431.2:g.37760del
NG_061543.1:g.11457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*213del MANE Select ENSP00000342007.4:n.*213del
ENST00000343932.4:c.*213del ENSP00000342007.4:n.*213del
NM_000761.4:c.*213del NP_000752.2:n.*213del
NM_000761.5:c.*213del MANE Select NP_000752.2:n.*213del
Search 100 bp 5'
Search 100 bp 3'