Canonical Allele Identifier: CA2580065751
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2006286
ClinVar RCV Id: RCV002837679
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814143del , CM000664.2:g.218814143del GRCh38
NC_000002.11:g.219678866del , CM000664.1:g.219678866del GRCh37
NC_000002.10:g.219387110del NCBI36
NG_007959.1:g.37395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1140del MANE Select ENSP00000258415.4:p.Phe380LeufsTer28
ENST00000258415.8:c.1140del ENSP00000258415.4:p.Phe380LeufsTer28
ENST00000494263.5:n.1574del
NM_000784.3:c.1140del NP_000775.1:p.Phe380LeufsTer28
XM_017003488.2:c.720del XP_016858977.1:p.Phe240LeufsTer28
NM_000784.4:c.1140del MANE Select NP_000775.1:p.Phe380LeufsTer28
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