Canonical Allele Identifier: CA1245628363
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075400_38075403delinsAGAG , CM000664.2:g.38075400_38075403delinsAGAG GRCh38
NC_000002.11:g.38302543_38302546delinsAGAG , CM000664.1:g.38302543_38302546delinsAGAG GRCh37
NC_000002.10:g.38156047_38156050delinsAGAG NCBI36
NG_008386.2:g.5699_5702delinsCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-14_-1-11delinsCTCT ENSP00000478839.2:n.-1-14_-1-11delinsCTCT
ENST00000610745.5:c.-1-14_-1-11delinsCTCT MANE Select ENSP00000478561.1:n.-1-14_-1-11delinsCTCT
ENST00000490576.1:c.-1-14_-1-11delinsCTCT ENSP00000478839.1:n.-1-14_-1-11delinsCTCT
ENST00000494864.1:c.-70-4093_-70-4090delinsCTCT ENSP00000479876.1:n.-70-4093_-70-4090delinsCTCT
ENST00000610745.4:c.-1-14_-1-11delinsCTCT ENSP00000478561.1:n.-1-14_-1-11delinsCTCT
ENST00000613082.1:n.375+377_375+380delinsCTCT
ENST00000614273.1:c.-1-14_-1-11delinsCTCT ENSP00000483678.1:n.-1-14_-1-11delinsCTCT
NM_000104.3:c.-1-14_-1-11delinsCTCT NP_000095.2:n.-1-14_-1-11delinsCTCT
XM_011533236.1:c.14_17delinsAGAG XP_011531538.1:p.Glu5=
NM_000104.4:c.-1-14_-1-11delinsCTCT MANE Select NP_000095.2:n.-1-14_-1-11delinsCTCT