Canonical Allele Identifier: CA115130
Gene: CYP27B1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57766131del
GRCh37 chr12:g.58159914del
gnomAD v2:
12:58159913 AC / A
gnomAD v3:
12:57766130 AC / A
gnomAD v4:
chr12-57766130-AC-A
Joint Max Group AF 0.00002985 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00002789 (NFE)
ClinVar RCV:
RCV000001731
RCV000254925
ClinVar Variation:
1664
dbSNP:
387906260
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766131del , CM000674.2:g.57766131del GRCh38
NC_000012.11:g.58159914del , CM000674.1:g.58159914del GRCh37
NC_000012.10:g.56446181del NCBI36
NG_007076.1:g.6063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.174del
ENST00000713544.1:c.262del ENSP00000518840.1:p.Val88TrpfsTer?
ENST00000713545.1:c.262del ENSP00000518841.1:p.Val88TrpfsTer?
ENST00000228606.9:c.262del MANE Select ENSP00000228606.4:p.Val88TrpfsTer?
ENST00000228606.8:c.262del ENSP00000228606.4:p.Val88TrpfsTer?
ENST00000546496.1:n.90del
ENST00000546609.1:c.174del
ENST00000547344.5:n.316del
ENST00000552186.1:n.381del
NM_000785.3:c.262del NP_000776.1:p.Val88TrpfsTer?
NM_000785.4:c.262del MANE Select NP_000776.1:p.Val88TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'