Canonical Allele Identifier: CA2658667718

Gene: CYP1B1

Linked Data

• gnomAD v4: 2-38075052-CCGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075054_38075057del , CM000664.2:g.38075054_38075057del	GRCh38
NC_000002.11:g.38302197_38302200del , CM000664.1:g.38302197_38302200del	GRCh37
NC_000002.10:g.38155701_38155704del	NCBI36
NG_008386.2:g.6046_6049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.333_336del	ENSP00000478839.2:p.Ser112ProfsTer?
ENST00000610745.5:c.333_336del MANE Select	ENSP00000478561.1:p.Ser112ProfsTer?
ENST00000490576.1:c.333_336del	ENSP00000478839.1:p.Ser112ProfsTer?
ENST00000494864.1:c.-70-3746_-70-3743del	ENSP00000479876.1:n.-70-3746_-70-3743del
ENST00000610745.4:c.333_336del	ENSP00000478561.1:p.Ser112ProfsTer?
ENST00000613082.1:n.376-648_376-645del
ENST00000614273.1:c.333_336del	ENSP00000483678.1:p.Ser112ProfsTer?
NM_000104.3:c.333_336del	NP_000095.2:p.Ser112ProfsTer?
NM_000104.4:c.333_336del MANE Select	NP_000095.2:p.Ser112ProfsTer?