Canonical Allele Identifier: CA2112926
Gene: CYP27A1 HGNC NCBI

Linked Data

dbSNP Id: rs781778588
ExAC: 2:219679635 TGATCCAGAAGTACAAGGTGGTCCTGGCCCCG / T
gnomAD v2: 2-219679635-TGATCCAGAAGTACAAGGTGGTCCTGGCCCCG-T
gnomAD v4: 2-218814912-TGATCCAGAAGTACAAGGTGGTCCTGGCCCCG-T
MyVariant Identifiers: chr2:g.219679636_219679666del (hg19) chr2:g.218814913_218814943del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814915_218814945del , CM000664.2:g.218814915_218814945del GRCh38
NC_000002.11:g.219679638_219679668del , CM000664.1:g.219679638_219679668del GRCh37
NC_000002.10:g.219387882_219387912del NCBI36
NG_007959.1:g.38167_38197del

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1481_1511del MANE Select ENSP00000258415.4:p.Ile494ArgfsTer5
ENST00000258415.8:c.1481_1511del ENSP00000258415.4:p.Ile494ArgfsTer5
ENST00000494263.5:n.2193_2223del
NM_000784.3:c.1481_1511del NP_000775.1:p.Ile494ArgfsTer5
XM_017003488.2:c.1061_1091del XP_016858977.1:p.Ile354ArgfsTer5
NM_000784.4:c.1481_1511del MANE Select NP_000775.1:p.Ile494ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'