Canonical Allele Identifier: CA1245626021

Gene: CYP1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070926_38070951delinsAGAAAGTTCTTCGCCAATGCACCGCC , CM000664.2:g.38070926_38070951delinsAGAAAGTTCTTCGCCAATGCACCGCC	GRCh38
NC_000002.11:g.38298069_38298094delinsAGAAAGTTCTTCGCCAATGCACCGCC , CM000664.1:g.38298069_38298094delinsAGAAAGTTCTTCGCCAATGCACCGCC	GRCh37
NC_000002.10:g.38151573_38151598delinsAGAAAGTTCTTCGCCAATGCACCGCC	NCBI36
NG_008386.2:g.10151_10176delinsGGCGGTGCATTGGCGAAGAACTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1403_1428delinsGGCGGTGCATTGGCGAAGAACTTTCT	ENSP00000478839.2:p.Arg468=
ENST00000610745.5:c.1403_1428delinsGGCGGTGCATTGGCGAAGAACTTTCT MANE Select	ENSP00000478561.1:p.Arg468=
ENST00000494864.1:c.290_315delinsGGCGGTGCATTGGCGAAGAACTTTCT	ENSP00000479876.1:p.Arg97=
ENST00000610745.4:c.1403_1428delinsGGCGGTGCATTGGCGAAGAACTTTCT	ENSP00000478561.1:p.Arg468=
ENST00000614273.1:c.1403_1428delinsGGCGGTGCATTGGCGAAGAACTTTCT	ENSP00000483678.1:p.Arg468=
NM_000104.3:c.1403_1428delinsGGCGGTGCATTGGCGAAGAACTTTCT	NP_000095.2:p.Arg468=
NM_000104.4:c.1403_1428delinsGGCGGTGCATTGGCGAAGAACTTTCT MANE Select	NP_000095.2:p.Arg468=