Canonical Allele Identifier: CA2749546756
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075577_38075578insACA , CM000664.2:g.38075577_38075578insACA GRCh38
NC_000002.11:g.38302720_38302721insACA , CM000664.1:g.38302720_38302721insACA GRCh37
NC_000002.10:g.38156224_38156225insACA NCBI36
NG_008386.2:g.5524_5525insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-189_-1-188insTGT ENSP00000478839.2:n.-1-189_-1-188insTGT
ENST00000610745.5:c.-1-189_-1-188insTGT MANE Select ENSP00000478561.1:n.-1-189_-1-188insTGT
ENST00000490576.1:c.-1-189_-1-188insTGT ENSP00000478839.1:n.-1-189_-1-188insTGT
ENST00000494864.1:c.-70-4268_-70-4267insTGT ENSP00000479876.1:n.-70-4268_-70-4267insTGT
ENST00000610745.4:c.-1-189_-1-188insTGT ENSP00000478561.1:n.-1-189_-1-188insTGT
ENST00000613082.1:n.375+202_375+203insTGT
ENST00000614273.1:c.-1-189_-1-188insTGT ENSP00000483678.1:n.-1-189_-1-188insTGT
NM_000104.3:c.-1-189_-1-188insTGT NP_000095.2:n.-1-189_-1-188insTGT
XM_011533236.1:c.191_192insACA XP_011531538.1:p.Gly64_Val65insHis
NM_000104.4:c.-1-189_-1-188insTGT MANE Select NP_000095.2:n.-1-189_-1-188insTGT