Canonical Allele Identifier: CA2749546771

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075600_38075601insA , CM000664.2:g.38075600_38075601insA	GRCh38
NC_000002.11:g.38302743_38302744insA , CM000664.1:g.38302743_38302744insA	GRCh37
NC_000002.10:g.38156247_38156248insA	NCBI36
NG_008386.2:g.5501_5502insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-212_-1-211insT	ENSP00000478839.2:n.-1-212_-1-211insT
ENST00000610745.5:c.-2+179_-2+180insT MANE Select	ENSP00000478561.1:n.-2+179_-2+180insT
ENST00000490576.1:c.-1-212_-1-211insT	ENSP00000478839.1:n.-1-212_-1-211insT
ENST00000494864.1:c.-70-4291_-70-4290insT	ENSP00000479876.1:n.-70-4291_-70-4290insT
ENST00000610745.4:c.-2+179_-2+180insT	ENSP00000478561.1:n.-2+179_-2+180insT
ENST00000613082.1:n.375+179_375+180insT
ENST00000614273.1:c.-2+175_-2+176insT	ENSP00000483678.1:n.-2+175_-2+176insT
NM_000104.3:c.-2+179_-2+180insT	NP_000095.2:n.-2+179_-2+180insT
XM_011533236.1:c.214_215insA	XP_011531538.1:p.Pro72HisfsTer13
NM_000104.4:c.-2+179_-2+180insT MANE Select	NP_000095.2:n.-2+179_-2+180insT