Canonical Allele Identifier: CA619123150
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1389844093
gnomAD v2: 15-75047706-AC-A
gnomAD v3: 15-74755365-AC-A
gnomAD v4: 15-74755365-AC-A
MyVariant Identifiers: chr15:g.75047707del (hg19) chr15:g.74755366del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755366del , CM000677.2:g.74755366del GRCh38
NC_000015.9:g.75047707del , CM000677.1:g.75047707del GRCh37
NC_000015.8:g.72834760del NCBI36
NG_008431.1:g.37825del
NG_008431.2:g.37825del
NG_061543.1:g.11522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*278del MANE Select ENSP00000342007.4:n.*278del
ENST00000343932.4:c.*278del ENSP00000342007.4:n.*278del
NM_000761.4:c.*278del NP_000752.2:n.*278del
NM_000761.5:c.*278del MANE Select NP_000752.2:n.*278del
Search 100 bp 5'
Search 100 bp 3'