Canonical Allele Identifier: CA2749545392

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075219del , CM000664.2:g.38075219del	GRCh38
NC_000002.11:g.38302362del , CM000664.1:g.38302362del	GRCh37
NC_000002.10:g.38155866del	NCBI36
NG_008386.2:g.5884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.171del	ENSP00000478839.2:p.Trp57CysfsTer3
ENST00000610745.5:c.171del MANE Select	ENSP00000478561.1:p.Trp57CysfsTer3
ENST00000490576.1:c.171del	ENSP00000478839.1:p.Trp57CysfsTer3
ENST00000494864.1:c.-70-3908del	ENSP00000479876.1:n.-70-3908del
ENST00000610745.4:c.171del	ENSP00000478561.1:p.Trp57CysfsTer3
ENST00000613082.1:n.375+562del
ENST00000614273.1:c.171del	ENSP00000483678.1:p.Trp57CysfsTer3
NM_000104.3:c.171del	NP_000095.2:p.Trp57CysfsTer3
NM_000104.4:c.171del MANE Select	NP_000095.2:p.Trp57CysfsTer3