Canonical Allele Identifier: CA2586971285
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734395
ClinVar RCV Id: RCV003504527
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814611_218814614del , CM000664.2:g.218814611_218814614del GRCh38
NC_000002.11:g.219679334_219679337del , CM000664.1:g.219679334_219679337del GRCh37
NC_000002.10:g.219387578_219387581del NCBI36
NG_007959.1:g.37863_37866del

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1330_1333del MANE Select ENSP00000258415.4:p.Phe444SerfsTer6
ENST00000258415.8:c.1330_1333del ENSP00000258415.4:p.Phe444SerfsTer6
ENST00000494263.5:n.2042_2045del
NM_000784.3:c.1330_1333del NP_000775.1:p.Phe444SerfsTer6
XM_017003488.2:c.910_913del XP_016858977.1:p.Phe304SerfsTer6
NM_000784.4:c.1330_1333del MANE Select NP_000775.1:p.Phe444SerfsTer6
Search 100 bp 5'
Search 100 bp 3'