Canonical Allele Identifier: CA2749546738

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075555_38075556insACAA , CM000664.2:g.38075555_38075556insACAA	GRCh38
NC_000002.11:g.38302698_38302699insACAA , CM000664.1:g.38302698_38302699insACAA	GRCh37
NC_000002.10:g.38156202_38156203insACAA	NCBI36
NG_008386.2:g.5546_5547insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-167_-1-166insTTGT	ENSP00000478839.2:n.-1-167_-1-166insTTGT
ENST00000610745.5:c.-1-167_-1-166insTTGT MANE Select	ENSP00000478561.1:n.-1-167_-1-166insTTGT
ENST00000490576.1:c.-1-167_-1-166insTTGT	ENSP00000478839.1:n.-1-167_-1-166insTTGT
ENST00000494864.1:c.-70-4246_-70-4245insTTGT	ENSP00000479876.1:n.-70-4246_-70-4245insTTGT
ENST00000610745.4:c.-1-167_-1-166insTTGT	ENSP00000478561.1:n.-1-167_-1-166insTTGT
ENST00000613082.1:n.375+224_375+225insTTGT
ENST00000614273.1:c.-1-167_-1-166insTTGT	ENSP00000483678.1:n.-1-167_-1-166insTTGT
NM_000104.3:c.-1-167_-1-166insTTGT	NP_000095.2:n.-1-167_-1-166insTTGT
XM_011533236.1:c.169_170insACAA	XP_011531538.1:p.Ser57TyrfsTer16
NM_000104.4:c.-1-167_-1-166insTTGT MANE Select	NP_000095.2:n.-1-167_-1-166insTTGT