Canonical Allele Identifier: CA2112687
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498394
ClinVar RCV Id: RCV000595702 RCV000598773
dbSNP Id: rs755532803
ExAC: 2:219677291 GTTCGAGAAACGCA / G
gnomAD v2: 2-219677291-GTTCGAGAAACGCA-G
gnomAD v3: 2-218812568-GTTCGAGAAACGCA-G
gnomAD v4: 2-218812568-GTTCGAGAAACGCA-G
MyVariant Identifiers: chr2:g.219677294_219677306del (hg19) chr2:g.219677292_219677304del (hg19) chr2:g.218812571_218812583del (hg38) chr2:g.218812569_218812581del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812571_218812583del , CM000664.2:g.218812571_218812583del GRCh38
NC_000002.11:g.219677294_219677306del , CM000664.1:g.219677294_219677306del GRCh37
NC_000002.10:g.219385538_219385550del NCBI36
NG_007959.1:g.35823_35835del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.666_678del MANE Select ENSP00000258415.4:p.Phe222LeufsTer13
ENST00000258415.8:c.666_678del ENSP00000258415.4:p.Phe222LeufsTer13
ENST00000411688.1:c.384_396del ENSP00000392671.1:p.Phe128LeufsTer13
ENST00000445971.1:c.*127_*139del ENSP00000404945.1:n.*127_*139del
ENST00000466602.1:n.614_626del
ENST00000494263.5:n.1100_1112del
NM_000784.3:c.666_678del NP_000775.1:p.Phe222LeufsTer13
XM_017003488.2:c.246_258del XP_016858977.1:p.Phe82LeufsTer13
NM_000784.4:c.666_678del MANE Select NP_000775.1:p.Phe222LeufsTer13
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Search 100 bp 3'