Canonical Allele Identifier: CA2619520147

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2766497
• ClinVar RCV Id: RCV003580307
• gnomAD v4: 12-57766199-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766202_57766204del , CM000674.2:g.57766202_57766204del	GRCh38
NC_000012.11:g.58159985_58159987del , CM000674.1:g.58159985_58159987del	GRCh37
NC_000012.10:g.56446252_56446254del	NCBI36
NG_007076.1:g.5992_5994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-5_108-3del
ENST00000713544.1:c.196-5_196-3del	ENSP00000518840.1:n.196-5_196-3del
ENST00000713545.1:c.196-5_196-3del	ENSP00000518841.1:n.196-5_196-3del
ENST00000228606.9:c.196-5_196-3del MANE Select	ENSP00000228606.4:n.196-5_196-3del
ENST00000228606.8:c.196-5_196-3del	ENSP00000228606.4:n.196-5_196-3del
ENST00000546496.1:n.24-5_24-3del
ENST00000546609.1:c.108-5_108-3del
ENST00000547344.5:n.250-5_250-3del
ENST00000552186.1:n.310_312del
NM_000785.3:c.196-5_196-3del	NP_000776.1:n.196-5_196-3del
NM_000785.4:c.196-5_196-3del MANE Select	NP_000776.1:n.196-5_196-3del