Canonical Allele Identifier: CA2796149734

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766053_57766054insAACAACAGAAAAAGAAGCCCTTGCACTTGTGGACCGCATCATCGAATATTACAAAGCAAATGCACAAATCGAACGAATGGGTGAATTCATCGA , CM000674.2:g.57766053_57766054insAACAACAGAAAAAGAAGCCCTTGCACTTGTGGACCGCATCATCGAATATTACAAAGCAAATGCACAAATCGAACGAATGGGTGAATTCATCGA	GRCh38
NC_000012.11:g.58159836_58159837insAACAACAGAAAAAGAAGCCCTTGCACTTGTGGACCGCATCATCGAATATTACAAAGCAAATGCACAAATCGAACGAATGGGTGAATTCATCGA , CM000674.1:g.58159836_58159837insAACAACAGAAAAAGAAGCCCTTGCACTTGTGGACCGCATCATCGAATATTACAAAGCAAATGCACAAATCGAACGAATGGGTGAATTCATCGA	GRCh37
NC_000012.10:g.56446103_56446104insAACAACAGAAAAAGAAGCCCTTGCACTTGTGGACCGCATCATCGAATATTACAAAGCAAATGCACAAATCGAACGAATGGGTGAATTCATCGA	NCBI36
NG_007076.1:g.6140_6141insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.251_252insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000713544.1:c.339_340insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000713545.1:c.339_340insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000228606.9:c.339_340insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000228606.8:c.339_340insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000546496.1:n.167_168insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000546609.1:c.251_252insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000547344.5:n.393_394insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
ENST00000552186.1:n.458_459insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
NM_000785.3:c.339_340insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT
NM_000785.4:c.339_340insTCGATGAATTCACCCATTCGTTCGATTTGTGCATTTGCTTTGTAATATTCGATGATGCGGTCCACAAGTGCAAGGGCTTCTTTTTCTGTTGTT