Canonical Allele Identifier: CA2629506588
Gene: CYP1A2 HGNC NCBI

Linked Data

gnomAD v4: 15-74750304-ACAAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750307_74750310del , CM000677.2:g.74750307_74750310del GRCh38
NC_000015.9:g.75042648_75042651del , CM000677.1:g.75042648_75042651del GRCh37
NC_000015.8:g.72829701_72829704del NCBI36
NG_008431.1:g.32766_32769del
NG_008431.2:g.32766_32769del
NG_061543.1:g.6463_6466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.569_572del MANE Select ENSP00000342007.4:p.Asn190ArgfsTer30
ENST00000343932.4:c.569_572del ENSP00000342007.4:p.Asn190ArgfsTer30
NM_000761.4:c.569_572del NP_000752.2:p.Asn190ArgfsTer30
NM_000761.5:c.569_572del MANE Select NP_000752.2:p.Asn190ArgfsTer30
Search 100 bp 5'
Search 100 bp 3'