Canonical Allele Identifier: CA948106709

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955359355
• gnomAD v3: 12-57766187-GCGC-G
• gnomAD v4: 12-57766187-GCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766189_57766191del , CM000674.2:g.57766189_57766191del	GRCh38
NC_000012.11:g.58159972_58159974del , CM000674.1:g.58159972_58159974del	GRCh37
NC_000012.10:g.56446239_56446241del	NCBI36
NG_007076.1:g.6004_6006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.115_117del
ENST00000713544.1:c.203_205del	ENSP00000518840.1:p.Gly68del
ENST00000713545.1:c.203_205del	ENSP00000518841.1:p.Gly68del
ENST00000228606.9:c.203_205del MANE Select	ENSP00000228606.4:p.Gly68del
ENST00000228606.8:c.203_205del	ENSP00000228606.4:p.Gly68del
ENST00000546496.1:n.31_33del
ENST00000546609.1:c.115_117del
ENST00000547344.5:n.257_259del
ENST00000552186.1:n.322_324del
NM_000785.3:c.203_205del	NP_000776.1:p.Gly68del
NM_000785.4:c.203_205del MANE Select	NP_000776.1:p.Gly68del