Canonical Allele Identifier: CA2619519743

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766112-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766113del , CM000674.2:g.57766113del	GRCh38
NC_000012.11:g.58159896del , CM000674.1:g.58159896del	GRCh37
NC_000012.10:g.56446163del	NCBI36
NG_007076.1:g.6081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.192del
ENST00000713544.1:c.280del	ENSP00000518840.1:p.Val94SerfsTer?
ENST00000713545.1:c.280del	ENSP00000518841.1:p.Val94SerfsTer?
ENST00000228606.9:c.280del MANE Select	ENSP00000228606.4:p.Val94SerfsTer?
ENST00000228606.8:c.280del	ENSP00000228606.4:p.Val94SerfsTer?
ENST00000546496.1:n.108del
ENST00000546609.1:c.192del
ENST00000547344.5:n.334del
ENST00000552186.1:n.399del
NM_000785.3:c.280del	NP_000776.1:p.Val94SerfsTer?
NM_000785.4:c.280del MANE Select	NP_000776.1:p.Val94SerfsTer?