Canonical Allele Identifier: CA2187814978
Gene: CYP1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720745_74720746delinsAG , CM000677.2:g.74720745_74720746delinsAG GRCh38
NC_000015.9:g.75013086_75013087delinsAG , CM000677.1:g.75013086_75013087delinsAG GRCh37
NC_000015.8:g.72800139_72800140delinsAG NCBI36
NG_008431.1:g.3204_3205delinsAG
NG_008431.2:g.3204_3205delinsAG
NG_061374.1:g.9783_9784delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1282_1283delinsCT MANE Select ENSP00000369050.3:p.Leu428=
ENST00000379727.7:c.1282_1283delinsCT ENSP00000369050.3:p.Leu428=
ENST00000395048.6:c.1282_1283delinsCT ENSP00000378488.2:p.Leu428=
ENST00000395049.8:c.1195_1196delinsCT ENSP00000378489.4:p.Leu399=
ENST00000562201.5:c.*519_*520delinsCT ENSP00000455340.1:n.*519_*520delinsCT
ENST00000564596.5:c.*217_*218delinsCT ENSP00000457668.1:n.*217_*218delinsCT
ENST00000566503.1:c.499_500delinsCT ENSP00000455846.1:p.Leu167=
ENST00000567032.5:c.1282_1283delinsCT ENSP00000456585.1:p.Leu428=
ENST00000569630.5:c.*871_*872delinsCT ENSP00000455051.1:n.*871_*872delinsCT
ENST00000612821.4:c.1198_1199delinsCT ENSP00000479744.1:p.Leu400=
ENST00000617691.4:c.1195_1196delinsCT ENSP00000482863.1:p.Leu399=
NM_000499.3:c.1282_1283delinsCT NP_000490.1:p.Leu428=
XM_005254185.1:c.1282_1283delinsCT XP_005254242.1:p.Leu428=
NM_000499.5:c.1282_1283delinsCT NP_000490.1:p.Leu428=
NM_001319216.2:c.1195_1196delinsCT NP_001306145.1:p.Leu399=
NM_001319217.2:c.1282_1283delinsCT MANE Select NP_001306146.1:p.Leu428=