{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573105022",
  "communityStandardTitle": [
    "NC_012920.1:m.8688_8778del"
  ],
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "",
          "end": 8778,
          "referenceAllele": "AAAACAAATGATAACCATACACAACACTAAAGGACGAACCTGATCTCTTATACTAGTATCCTTAATCATTTTTATTGCCACAACTAACCTC",
          "start": 8687
        }
      ],
      "hgvs": [
        "NC_012920.1:m.8688_8778del",
        "J01415.2:m.8688_8778del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 252,
          "referenceAllele": "AAAACAAATGATAACCATACACAACACTAAAGGACGAACCTGATCTCTTATACTAGTATCCTTAATCATTTTTATTGCCACAACTAACCTC",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007414",
      "geneNCBI_id": 4508,
      "geneSymbol": "MT-ATP6",
      "hgvs": [
        "ENST00000361899.2:c.162_252del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354632.2:p.Lys55SerfsTer16",
        "hgvsWellDefined": "ENSP00000354632.2:p.[Lys55delinsSerAsp;Leu70_Ile71delinsCysIleLeuValSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Val73_Ala80delinsSerLeuIleIlePheIleAlaThrThrAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Thr82_Asn83delinsHisAsnLeuLeuGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Leu85_Leu88delinsHisGlnGlyLeuLeuProHisSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;His90_Thr93delinsSerPheThrProThrThrGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Thr96_Ile100delinsGlnLeuSerIleAsnLeuAlaMetAlaIleProLeuTer;Leu102_Pro107delinsTyrAlaMetAlaIleProLeuTer;Ter109_Ile114delinsAlaGlyThrValIleIleGlyPheArgSerLysIleLysAsnAlaLeuAlaHisPheLeuProGlnGlyThrProThrProLeuIleProIleLeuValIleIleGluThrIleSerLeuLeuIleGlnProIleAlaLeuAlaValArgLeuThrAlaAsnIleThrAlaGlyHisLeuLeuMetHisLeuIleGlySerAlaThrLeuAlaIleSerThrIleAsnLeuProSerThrLeuIleIlePheThrIleLeuIleLeuLeuThrIleLeuGluIleAlaValAlaLeuIleGlnAlaTyrValPheThrLeuLeuValSerLeuTyrLeuHisAspAsnThrTer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265699"
    }
  ],
  "type": "nucleotide"
}