Canonical Allele Identifier: CA2038990965

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766172_57766176delinsGGCCC , CM000674.2:g.57766172_57766176delinsGGCCC	GRCh38
NC_000012.11:g.58159955_58159959delinsGGCCC , CM000674.1:g.58159955_58159959delinsGGCCC	GRCh37
NC_000012.10:g.56446222_56446226delinsGGCCC	NCBI36
NG_007076.1:g.6018_6022delinsGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.129_133delinsGGGCC
ENST00000713544.1:c.217_221delinsGGGCC	ENSP00000518840.1:p.Gly73=
ENST00000713545.1:c.217_221delinsGGGCC	ENSP00000518841.1:p.Gly73=
ENST00000228606.9:c.217_221delinsGGGCC MANE Select	ENSP00000228606.4:p.Gly73=
ENST00000228606.8:c.217_221delinsGGGCC	ENSP00000228606.4:p.Gly73=
ENST00000546496.1:n.45_49delinsGGGCC
ENST00000546609.1:c.129_133delinsGGGCC
ENST00000547344.5:n.271_275delinsGGGCC
ENST00000552186.1:n.336_340delinsGGGCC
NM_000785.3:c.217_221delinsGGGCC	NP_000776.1:p.Gly73=
NM_000785.4:c.217_221delinsGGGCC MANE Select	NP_000776.1:p.Gly73=