Canonical Allele Identifier: CA7659732
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs780591326
ExAC: 15:75042353 GACACCAT / G
gnomAD v2: 15-75042353-GACACCAT-G
gnomAD v4: 15-74750012-GACACCAT-G
MyVariant Identifiers: chr15:g.75042354_75042360del (hg19) chr15:g.74750013_74750019del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750013_74750019del , CM000677.2:g.74750013_74750019del GRCh38
NC_000015.9:g.75042354_75042360del , CM000677.1:g.75042354_75042360del GRCh37
NC_000015.8:g.72829407_72829413del NCBI36
NG_008431.1:g.32472_32478del
NG_008431.2:g.32472_32478del
NG_061543.1:g.6169_6175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.275_281del MANE Select ENSP00000342007.4:p.Asp92AlafsTer30
ENST00000343932.4:c.275_281del ENSP00000342007.4:p.Asp92AlafsTer30
NM_000761.4:c.275_281del NP_000752.2:p.Asp92AlafsTer30
NM_000761.5:c.275_281del MANE Select NP_000752.2:p.Asp92AlafsTer30
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