Canonical Allele Identifier: CA2038991001

Gene: CYP27B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766187_57766190delinsGCGC , CM000674.2:g.57766187_57766190delinsGCGC	GRCh38
NC_000012.11:g.58159970_58159973delinsGCGC , CM000674.1:g.58159970_58159973delinsGCGC	GRCh37
NC_000012.10:g.56446237_56446240delinsGCGC	NCBI36
NG_007076.1:g.6004_6007delinsGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.115_118delinsGCGC
ENST00000713544.1:c.203_206delinsGCGC	ENSP00000518840.1:p.Gly68=
ENST00000713545.1:c.203_206delinsGCGC	ENSP00000518841.1:p.Gly68=
ENST00000228606.9:c.203_206delinsGCGC MANE Select	ENSP00000228606.4:p.Gly68=
ENST00000228606.8:c.203_206delinsGCGC	ENSP00000228606.4:p.Gly68=
ENST00000546496.1:n.31_34delinsGCGC
ENST00000546609.1:c.115_118delinsGCGC
ENST00000547344.5:n.257_260delinsGCGC
ENST00000552186.1:n.322_325delinsGCGC
NM_000785.3:c.203_206delinsGCGC	NP_000776.1:p.Gly68=
NM_000785.4:c.203_206delinsGCGC MANE Select	NP_000776.1:p.Gly68=