Canonical Allele Identifier: CA2187814922
Gene: CYP1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720620_74720623delinsAGAG , CM000677.2:g.74720620_74720623delinsAGAG GRCh38
NC_000015.9:g.75012961_75012964delinsAGAG , CM000677.1:g.75012961_75012964delinsAGAG GRCh37
NC_000015.8:g.72800014_72800017delinsAGAG NCBI36
NG_008431.1:g.3079_3082delinsAGAG
NG_008431.2:g.3079_3082delinsAGAG
NG_061374.1:g.9906_9909delinsCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1405_1408delinsCTCT MANE Select ENSP00000369050.3:p.Leu469=
ENST00000379727.7:c.1405_1408delinsCTCT ENSP00000369050.3:p.Leu469=
ENST00000395048.6:c.1405_1408delinsCTCT ENSP00000378488.2:p.Leu469=
ENST00000395049.8:c.1318_1321delinsCTCT ENSP00000378489.4:p.Leu440=
ENST00000567032.5:c.1405_1408delinsCTCT ENSP00000456585.1:p.Leu469=
ENST00000612821.4:c.1321_1324delinsCTCT ENSP00000479744.1:p.Leu441=
ENST00000617691.4:c.1318_1321delinsCTCT ENSP00000482863.1:p.Leu440=
NM_000499.3:c.1405_1408delinsCTCT NP_000490.1:p.Leu469=
XM_005254185.1:c.1405_1408delinsCTCT XP_005254242.1:p.Leu469=
NM_000499.5:c.1405_1408delinsCTCT NP_000490.1:p.Leu469=
NM_001319216.2:c.1318_1321delinsCTCT NP_001306145.1:p.Leu440=
NM_001319217.2:c.1405_1408delinsCTCT MANE Select NP_001306146.1:p.Leu469=