Canonical Allele Identifier: CA2575206632

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2137383
• ClinVar RCV Id: RCV003058386

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766095_57766109del , CM000674.2:g.57766095_57766109del	GRCh38
NC_000012.11:g.58159878_58159892del , CM000674.1:g.58159878_58159892del	GRCh37
NC_000012.10:g.56446145_56446159del	NCBI36
NG_007076.1:g.6090_6104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.201_215del
ENST00000713544.1:c.289_303del	ENSP00000518840.1:p.Leu97_Glu101del
ENST00000713545.1:c.289_303del	ENSP00000518841.1:p.Leu97_Glu101del
ENST00000228606.9:c.289_303del MANE Select	ENSP00000228606.4:p.Leu97_Glu101del
ENST00000228606.8:c.289_303del	ENSP00000228606.4:p.Leu97_Glu101del
ENST00000546496.1:n.117_131del
ENST00000546609.1:c.201_215del
ENST00000547344.5:n.343_357del
ENST00000552186.1:n.408_422del
NM_000785.3:c.289_303del	NP_000776.1:p.Leu97_Glu101del
NM_000785.4:c.289_303del MANE Select	NP_000776.1:p.Leu97_Glu101del