Canonical Allele Identifier: CA2586969148

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075082_38075091delinsGGGCGCTT , CM000664.2:g.38075082_38075091delinsGGGCGCTT	GRCh38
NC_000002.11:g.38302225_38302234delinsGGGCGCTT , CM000664.1:g.38302225_38302234delinsGGGCGCTT	GRCh37
NC_000002.10:g.38155729_38155738delinsGGGCGCTT	NCBI36
NG_008386.2:g.6011_6020delinsAAGCGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.298_307delinsAAGCGCCC	ENSP00000478839.2:p.Glu100LysfsTer?
ENST00000610745.5:c.298_307delinsAAGCGCCC MANE Select	ENSP00000478561.1:p.Glu100LysfsTer?
ENST00000490576.1:c.298_307delinsAAGCGCCC	ENSP00000478839.1:p.Glu100LysfsTer?
ENST00000494864.1:c.-70-3781_-70-3772delinsAAGCGCCC	ENSP00000479876.1:n.-70-3781_-70-3772delinsAAGCGCCC
ENST00000610745.4:c.298_307delinsAAGCGCCC	ENSP00000478561.1:p.Glu100LysfsTer?
ENST00000613082.1:n.376-683_376-674delinsAAGCGCCC
ENST00000614273.1:c.298_307delinsAAGCGCCC	ENSP00000483678.1:p.Glu100LysfsTer?
NM_000104.3:c.298_307delinsAAGCGCCC	NP_000095.2:p.Glu100LysfsTer?
NM_000104.4:c.298_307delinsAAGCGCCC MANE Select	NP_000095.2:p.Glu100LysfsTer?