Canonical Allele Identifier: CA2619520351

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766242-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766245del , CM000674.2:g.57766245del	GRCh38
NC_000012.11:g.58160028del , CM000674.1:g.58160028del	GRCh37
NC_000012.10:g.56446295del	NCBI36
NG_007076.1:g.5951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-46del
ENST00000713544.1:c.196-46del	ENSP00000518840.1:n.196-46del
ENST00000713545.1:c.196-46del	ENSP00000518841.1:n.196-46del
ENST00000228606.9:c.196-46del MANE Select	ENSP00000228606.4:n.196-46del
ENST00000228606.8:c.196-46del	ENSP00000228606.4:n.196-46del
ENST00000546496.1:n.24-46del
ENST00000546609.1:c.108-46del
ENST00000547344.5:n.250-46del
ENST00000552186.1:n.269del
NM_000785.3:c.196-46del	NP_000776.1:n.196-46del
NM_000785.4:c.196-46del MANE Select	NP_000776.1:n.196-46del