Canonical Allele Identifier: CA619412625
Gene: CYP1A2 HGNC NCBI

Linked Data

gnomAD v2: 15-75042579-A-AGGAGGCTAAGGCCCTGATCAGCAGGTTGCAGGAGCTGATGGCAGGGCCTGGGCAC
gnomAD v4: 15-74750238-A-AGGAGGCTAAGGCCCTGATCAGCAGGTTGCAGGAGCTGATGGCAGGGCCTGGGCAC
MyVariant Identifiers: chr15:g.75042579_75042580insGGAGGCTAAGGCCCTGATCAGCAGGTTGCAGGAGCTGATGGCAGGGCCTGGGCAC (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750239_74750293dup , CM000677.2:g.74750239_74750293dup GRCh38
NC_000015.9:g.75042580_75042634dup , CM000677.1:g.75042580_75042634dup GRCh37
NC_000015.8:g.72829633_72829687dup NCBI36
NG_008431.1:g.32698_32752dup
NG_008431.2:g.32698_32752dup
NG_061543.1:g.6395_6449dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.501_555dup MANE Select ENSP00000342007.4:p.Phe186GlyfsTer3
ENST00000343932.4:c.501_555dup ENSP00000342007.4:p.Phe186GlyfsTer3
NM_000761.4:c.501_555dup NP_000752.2:p.Phe186GlyfsTer3
NM_000761.5:c.501_555dup MANE Select NP_000752.2:p.Phe186GlyfsTer3
Search 100 bp 5'
Search 100 bp 3'