Canonical Allele Identifier: CA1245628117

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075025_38075043delinsAGGCGAAGGCCGGCCGGTC , CM000664.2:g.38075025_38075043delinsAGGCGAAGGCCGGCCGGTC	GRCh38
NC_000002.11:g.38302168_38302186delinsAGGCGAAGGCCGGCCGGTC , CM000664.1:g.38302168_38302186delinsAGGCGAAGGCCGGCCGGTC	GRCh37
NC_000002.10:g.38155672_38155690delinsAGGCGAAGGCCGGCCGGTC	NCBI36
NG_008386.2:g.6059_6077delinsGACCGGCCGGCCTTCGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.346_364delinsGACCGGCCGGCCTTCGCCT	ENSP00000478839.2:p.Asp116=
ENST00000610745.5:c.346_364delinsGACCGGCCGGCCTTCGCCT MANE Select	ENSP00000478561.1:p.Asp116=
ENST00000490576.1:c.346_364delinsGACCGGCCGGCCTTCGCCT	ENSP00000478839.1:p.Asp116=
ENST00000494864.1:c.-70-3733_-70-3715delinsGACCGGCCGGCCTTCGCCT	ENSP00000479876.1:n.-70-3733_-70-3715delinsGACCGGCCGGCCTTCGCC...
ENST00000610745.4:c.346_364delinsGACCGGCCGGCCTTCGCCT	ENSP00000478561.1:p.Asp116=
ENST00000613082.1:n.376-635_376-617delinsGACCGGCCGGCCTTCGCCT
ENST00000614273.1:c.346_364delinsGACCGGCCGGCCTTCGCCT	ENSP00000483678.1:p.Asp116=
NM_000104.3:c.346_364delinsGACCGGCCGGCCTTCGCCT	NP_000095.2:p.Asp116=
NM_000104.4:c.346_364delinsGACCGGCCGGCCTTCGCCT MANE Select	NP_000095.2:p.Asp116=