Canonical Allele Identifier: CA2619519392

Gene: CYP27B1

Linked Data

• gnomAD v4: 12-57766021-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766022del , CM000674.2:g.57766022del	GRCh38
NC_000012.11:g.58159805del , CM000674.1:g.58159805del	GRCh37
NC_000012.10:g.56446072del	NCBI36
NG_007076.1:g.6172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.283del
ENST00000713544.1:c.371del	ENSP00000518840.1:p.Cys124SerfsTer?
ENST00000713545.1:c.371del	ENSP00000518841.1:p.Cys124SerfsTer?
ENST00000228606.9:c.371del MANE Select	ENSP00000228606.4:p.Cys124SerfsTer?
ENST00000228606.8:c.371del	ENSP00000228606.4:p.Cys124SerfsTer?
ENST00000546496.1:n.199del
ENST00000546609.1:c.283del
ENST00000547344.5:n.425del
ENST00000552186.1:n.490del
NM_000785.3:c.371del	NP_000776.1:p.Cys124SerfsTer?
NM_000785.4:c.371del MANE Select	NP_000776.1:p.Cys124SerfsTer?