Canonical Allele Identifier: CA2749545388
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075181_38075182insACA , CM000664.2:g.38075181_38075182insACA GRCh38
NC_000002.11:g.38302324_38302325insACA , CM000664.1:g.38302324_38302325insACA GRCh37
NC_000002.10:g.38155828_38155829insACA NCBI36
NG_008386.2:g.5920_5921insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.207_208insTGT ENSP00000478839.2:p.Ala69_Ala70insCys
ENST00000610745.5:c.207_208insTGT MANE Select ENSP00000478561.1:p.Ala69_Ala70insCys
ENST00000490576.1:c.207_208insTGT ENSP00000478839.1:p.Ala69_Ala70insCys
ENST00000494864.1:c.-70-3872_-70-3871insTGT ENSP00000479876.1:n.-70-3872_-70-3871insTGT
ENST00000610745.4:c.207_208insTGT ENSP00000478561.1:p.Ala69_Ala70insCys
ENST00000613082.1:n.375+598_375+599insTGT
ENST00000614273.1:c.207_208insTGT ENSP00000483678.1:p.Ala69_Ala70insCys
NM_000104.3:c.207_208insTGT NP_000095.2:p.Ala69_Ala70insCys
NM_000104.4:c.207_208insTGT MANE Select NP_000095.2:p.Ala69_Ala70insCys