Canonical Allele Identifier: CA2749544707

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071284del , CM000664.2:g.38071284del	GRCh38
NC_000002.11:g.38298427del , CM000664.1:g.38298427del	GRCh37
NC_000002.10:g.38151931del	NCBI36
NG_008386.2:g.9818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1070del	ENSP00000478839.2:p.Gln357ArgfsTer?
ENST00000610745.5:c.1070del MANE Select	ENSP00000478561.1:p.Gln357ArgfsTer?
ENST00000492443.1:n.448del
ENST00000494864.1:c.-44del	ENSP00000479876.1:n.-44del
ENST00000610745.4:c.1070del	ENSP00000478561.1:p.Gln357ArgfsTer?
ENST00000613082.1:n.465del
ENST00000614273.1:c.1070del	ENSP00000483678.1:p.Gln357ArgfsTer?
NM_000104.3:c.1070del	NP_000095.2:p.Gln357ArgfsTer?
NM_000104.4:c.1070del MANE Select	NP_000095.2:p.Gln357ArgfsTer?