Canonical Allele Identifier: CA2796149733

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766051_57766052insACGCATTGGCGACCTCATTGCAGAG , CM000674.2:g.57766051_57766052insACGCATTGGCGACCTCATTGCAGAG	GRCh38
NC_000012.11:g.58159834_58159835insACGCATTGGCGACCTCATTGCAGAG , CM000674.1:g.58159834_58159835insACGCATTGGCGACCTCATTGCAGAG	GRCh37
NC_000012.10:g.56446101_56446102insACGCATTGGCGACCTCATTGCAGAG	NCBI36
NG_007076.1:g.6142_6143insCTCTGCAATGAGGTCGCCAATGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.253_254insCTCTGCAATGAGGTCGCCAATGCGT
ENST00000713544.1:c.341_342insCTCTGCAATGAGGTCGCCAATGCGT	ENSP00000518840.1:p.Glu115SerfsTer?
ENST00000713545.1:c.341_342insCTCTGCAATGAGGTCGCCAATGCGT	ENSP00000518841.1:p.Glu115SerfsTer?
ENST00000228606.9:c.341_342insCTCTGCAATGAGGTCGCCAATGCGT MANE Select	ENSP00000228606.4:p.Glu115SerfsTer?
ENST00000228606.8:c.341_342insCTCTGCAATGAGGTCGCCAATGCGT	ENSP00000228606.4:p.Glu115SerfsTer?
ENST00000546496.1:n.169_170insCTCTGCAATGAGGTCGCCAATGCGT
ENST00000546609.1:c.253_254insCTCTGCAATGAGGTCGCCAATGCGT
ENST00000547344.5:n.395_396insCTCTGCAATGAGGTCGCCAATGCGT
ENST00000552186.1:n.460_461insCTCTGCAATGAGGTCGCCAATGCGT
NM_000785.3:c.341_342insCTCTGCAATGAGGTCGCCAATGCGT	NP_000776.1:p.Glu115SerfsTer?
NM_000785.4:c.341_342insCTCTGCAATGAGGTCGCCAATGCGT MANE Select	NP_000776.1:p.Glu115SerfsTer?