Canonical Allele Identifier: CA2619519654

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766082-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766086del , CM000674.2:g.57766086del	GRCh38
NC_000012.11:g.58159869del , CM000674.1:g.58159869del	GRCh37
NC_000012.10:g.56446136del	NCBI36
NG_007076.1:g.6111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.222del
ENST00000713544.1:c.310del	ENSP00000518840.1:p.Arg104GlyfsTer?
ENST00000713545.1:c.310del	ENSP00000518841.1:p.Arg104GlyfsTer?
ENST00000228606.9:c.310del MANE Select	ENSP00000228606.4:p.Arg104GlyfsTer?
ENST00000228606.8:c.310del	ENSP00000228606.4:p.Arg104GlyfsTer?
ENST00000546496.1:n.138del
ENST00000546609.1:c.222del
ENST00000547344.5:n.364del
ENST00000552186.1:n.429del
NM_000785.3:c.310del	NP_000776.1:p.Arg104GlyfsTer?
NM_000785.4:c.310del MANE Select	NP_000776.1:p.Arg104GlyfsTer?