Canonical Allele Identifier: CA2749545429

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075499_38075500insA , CM000664.2:g.38075499_38075500insA	GRCh38
NC_000002.11:g.38302642_38302643insA , CM000664.1:g.38302642_38302643insA	GRCh37
NC_000002.10:g.38156146_38156147insA	NCBI36
NG_008386.2:g.5602_5603insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-111_-1-110insT	ENSP00000478839.2:n.-1-111_-1-110insT
ENST00000610745.5:c.-1-111_-1-110insT MANE Select	ENSP00000478561.1:n.-1-111_-1-110insT
ENST00000490576.1:c.-1-111_-1-110insT	ENSP00000478839.1:n.-1-111_-1-110insT
ENST00000494864.1:c.-70-4190_-70-4189insT	ENSP00000479876.1:n.-70-4190_-70-4189insT
ENST00000610745.4:c.-1-111_-1-110insT	ENSP00000478561.1:n.-1-111_-1-110insT
ENST00000613082.1:n.375+280_375+281insT
ENST00000614273.1:c.-1-111_-1-110insT	ENSP00000483678.1:n.-1-111_-1-110insT
NM_000104.3:c.-1-111_-1-110insT	NP_000095.2:n.-1-111_-1-110insT
XM_011533236.1:c.113_114insA	XP_011531538.1:p.Glu39GlyfsTer?
NM_000104.4:c.-1-111_-1-110insT MANE Select	NP_000095.2:n.-1-111_-1-110insT