Canonical Allele Identifier: CA948106713

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955359463
• gnomAD v3: 12-57766192-C-CGAAG
• gnomAD v4: 12-57766192-C-CGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766192_57766193insGAAG , CM000674.2:g.57766192_57766193insGAAG	GRCh38
NC_000012.11:g.58159975_58159976insGAAG , CM000674.1:g.58159975_58159976insGAAG	GRCh37
NC_000012.10:g.56446242_56446243insGAAG	NCBI36
NG_007076.1:g.6001_6002insCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.112_113insCTTC
ENST00000713544.1:c.200_201insCTTC	ENSP00000518840.1:p.Gln67HisfsTer?
ENST00000713545.1:c.200_201insCTTC	ENSP00000518841.1:p.Gln67HisfsTer?
ENST00000228606.9:c.200_201insCTTC MANE Select	ENSP00000228606.4:p.Gln67HisfsTer?
ENST00000228606.8:c.200_201insCTTC	ENSP00000228606.4:p.Gln67HisfsTer?
ENST00000546496.1:n.28_29insCTTC
ENST00000546609.1:c.112_113insCTTC
ENST00000547344.5:n.254_255insCTTC
ENST00000552186.1:n.319_320insCTTC
NM_000785.3:c.200_201insCTTC	NP_000776.1:p.Gln67HisfsTer?
NM_000785.4:c.200_201insCTTC MANE Select	NP_000776.1:p.Gln67HisfsTer?