{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573104890",
  "communityStandardTitle": [
    "NC_012920.1:m.8718del"
  ],
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "",
          "end": 8718,
          "referenceAllele": "A",
          "start": 8717
        }
      ],
      "hgvs": [
        "NC_012920.1:m.8718del",
        "J01415.2:m.8718del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 192,
          "referenceAllele": "A",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007414",
      "geneNCBI_id": 4508,
      "geneSymbol": "MT-ATP6",
      "hgvs": [
        "ENST00000361899.2:c.192del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354632.2:p.Gly65AspfsTer8",
        "hgvsWellDefined": "ENSP00000354632.2:p.[Gly65_Ser69delinsAspGluProAspArgThrTer;Ile71delinsLeuValSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Val73_Pro94delinsTyrSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265699"
    }
  ],
  "type": "nucleotide"
}