Canonical Allele Identifier: CA2038988798

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765126_57765138delinsCACAGCGCGGATG , CM000674.2:g.57765126_57765138delinsCACAGCGCGGATG	GRCh38
NC_000012.11:g.58158909_58158921delinsCACAGCGCGGATG , CM000674.1:g.58158909_58158921delinsCACAGCGCGGATG	GRCh37
NC_000012.10:g.56445176_56445188delinsCACAGCGCGGATG	NCBI36
NG_007076.1:g.7056_7068delinsCATCCGCGCTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.575_587delinsCATCCGCGCTGTG
ENST00000713544.1:c.744_756delinsCATCCGCGCTGTG	ENSP00000518840.1:p.Phe248=
ENST00000713545.1:c.721_733delinsCATCCGCGCTGTG	ENSP00000518841.1:p.His241=
ENST00000228606.9:c.663_675delinsCATCCGCGCTGTG MANE Select	ENSP00000228606.4:p.Phe221=
ENST00000228606.8:c.663_675delinsCATCCGCGCTGTG	ENSP00000228606.4:p.Phe221=
ENST00000546567.5:c.-43_-31delinsCATCCGCGCTGTG	ENSP00000449472.1:n.-43_-31delinsCATCCGCGCTGTG
ENST00000546609.1:c.575_587delinsCATCCGCGCTGTG
ENST00000547344.5:n.802_814delinsCATCCGCGCTGTG
ENST00000547451.1:n.463_475delinsCATCCGCGCTGTG
NM_000785.3:c.663_675delinsCATCCGCGCTGTG	NP_000776.1:p.Phe221=
NM_000785.4:c.663_675delinsCATCCGCGCTGTG MANE Select	NP_000776.1:p.Phe221=