Canonical Allele Identifier: CA2749546773

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075602_38075603insCAG , CM000664.2:g.38075602_38075603insCAG	GRCh38
NC_000002.11:g.38302745_38302746insCAG , CM000664.1:g.38302745_38302746insCAG	GRCh37
NC_000002.10:g.38156249_38156250insCAG	NCBI36
NG_008386.2:g.5499_5500insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-214_-1-213insCTG	ENSP00000478839.2:n.-1-214_-1-213insCTG
ENST00000610745.5:c.-2+177_-2+178insCTG MANE Select	ENSP00000478561.1:n.-2+177_-2+178insCTG
ENST00000490576.1:c.-1-214_-1-213insCTG	ENSP00000478839.1:n.-1-214_-1-213insCTG
ENST00000494864.1:c.-70-4293_-70-4292insCTG	ENSP00000479876.1:n.-70-4293_-70-4292insCTG
ENST00000610745.4:c.-2+177_-2+178insCTG	ENSP00000478561.1:n.-2+177_-2+178insCTG
ENST00000613082.1:n.375+177_375+178insCTG
ENST00000614273.1:c.-2+173_-2+174insCTG	ENSP00000483678.1:n.-2+173_-2+174insCTG
NM_000104.3:c.-2+177_-2+178insCTG	NP_000095.2:n.-2+177_-2+178insCTG
XM_011533236.1:c.216_217insCAG	XP_011531538.1:p.Pro72_Ala73insGln
NM_000104.4:c.-2+177_-2+178insCTG MANE Select	NP_000095.2:n.-2+177_-2+178insCTG