Canonical Allele Identifier: CA2749546753
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075574_38075575insACA , CM000664.2:g.38075574_38075575insACA GRCh38
NC_000002.11:g.38302717_38302718insACA , CM000664.1:g.38302717_38302718insACA GRCh37
NC_000002.10:g.38156221_38156222insACA NCBI36
NG_008386.2:g.5527_5528insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-186_-1-185insTGT ENSP00000478839.2:n.-1-186_-1-185insTGT
ENST00000610745.5:c.-1-186_-1-185insTGT MANE Select ENSP00000478561.1:n.-1-186_-1-185insTGT
ENST00000490576.1:c.-1-186_-1-185insTGT ENSP00000478839.1:n.-1-186_-1-185insTGT
ENST00000494864.1:c.-70-4265_-70-4264insTGT ENSP00000479876.1:n.-70-4265_-70-4264insTGT
ENST00000610745.4:c.-1-186_-1-185insTGT ENSP00000478561.1:n.-1-186_-1-185insTGT
ENST00000613082.1:n.375+205_375+206insTGT
ENST00000614273.1:c.-1-186_-1-185insTGT ENSP00000483678.1:n.-1-186_-1-185insTGT
NM_000104.3:c.-1-186_-1-185insTGT NP_000095.2:n.-1-186_-1-185insTGT
XM_011533236.1:c.188_189insACA XP_011531538.1:p.Arg63_Gly64insGln
NM_000104.4:c.-1-186_-1-185insTGT MANE Select NP_000095.2:n.-1-186_-1-185insTGT