Canonical Allele Identifier: CA2038988859

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765144_57765145delinsCT , CM000674.2:g.57765144_57765145delinsCT	GRCh38
NC_000012.11:g.58158927_58158928delinsCT , CM000674.1:g.58158927_58158928delinsCT	GRCh37
NC_000012.10:g.56445194_56445195delinsCT	NCBI36
NG_007076.1:g.7049_7050delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.568_569delinsAG
ENST00000713544.1:c.737_738delinsAG	ENSP00000518840.1:p.Glu246=
ENST00000713545.1:c.714_715delinsAG	ENSP00000518841.1:p.Gly238=
ENST00000228606.9:c.656_657delinsAG MANE Select	ENSP00000228606.4:p.Glu219=
ENST00000228606.8:c.656_657delinsAG	ENSP00000228606.4:p.Glu219=
ENST00000546567.5:c.-50_-49delinsAG	ENSP00000449472.1:n.-50_-49delinsAG
ENST00000546609.1:c.568_569delinsAG
ENST00000547344.5:n.795_796delinsAG
ENST00000547451.1:n.456_457delinsAG
NM_000785.3:c.656_657delinsAG	NP_000776.1:p.Glu219=
NM_000785.4:c.656_657delinsAG MANE Select	NP_000776.1:p.Glu219=