{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276125",
  "communityStandardTitle": [
    "NC_000001.11:g.17004822_17004834del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205723[alleleid]",
        "alleleId": 205723,
        "preferredName": "NM_022089.4(ATP13A2):c.348-9_351del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209135",
        "RCV": [
          "RCV000191064",
          "RCV000598141",
          "RCV001378978"
        ],
        "variationId": 209135
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-17331312-CCAGGCTGGGGAAG-C",
        "id": "1-17331312-CCAGGCTGGGGAAG-C",
        "variant": "1:17331312 CCAGGCTGGGGAAG / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17331313_17331325del?assembly=hg19",
        "id": "chr1:g.17331313_17331325del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17004818_17004830del?assembly=hg38",
        "id": "chr1:g.17004818_17004830del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749798211",
        "rs": 749798211
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17331312-CCAGGCTGGGGAAG-C?dataset=gnomad_r2_1",
        "id": "1-17331312-CCAGGCTGGGGAAG-C",
        "variant": "1:17331312 CCAGGCTGGGGAAG / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17004817-CCAGGCTGGGGAAG-C?dataset=gnomad_r3",
        "id": "1-17004817-CCAGGCTGGGGAAG-C",
        "variant": "1:17004817 CCAGGCTGGGGAAG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17004817-CCAGGCTGGGGAAG-C?dataset=gnomad_r4",
        "id": "1-17004817-CCAGGCTGGGGAAG-C",
        "variant": "1:17004817 CCAGGCTGGGGAAG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 17004834,
          "referenceAllele": "CTGGGGAAGCAGG",
          "start": 17004821
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17004822_17004834del",
        "CM000663.2:g.17004822_17004834del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 17331329,
          "referenceAllele": "CTGGGGAAGCAGG",
          "start": 17331316
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17331317_17331329del",
        "CM000663.1:g.17331317_17331329del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 17203916,
          "referenceAllele": "CTGGGGAAGCAGG",
          "start": 17203903
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17203904_17203916del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12111,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 12098
        }
      ],
      "hgvs": [
        "NG_009054.1:g.12099_12111del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001396"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.13:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS746785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 385,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 381,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.12:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS258661"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 528,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000341676.9:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS261383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000452699.5:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 85,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 81,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000508222.5:c.82-9_85del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339296"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 328,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000509619.1:c.325-9_328del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 277,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000510069.5:c.274-9_277del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 63,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000511957.5:c.60-9_63del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342101"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000617114.4:c.-499-9_-496del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.2:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS012784"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.2:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS012785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.3:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS037187"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245809.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS057382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245810.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS057383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245811.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS057384"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245812.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS057385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245813.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS057386"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245815.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS057387"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710512.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS068650"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710513.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS068651"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541128.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS108071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541129.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS108072"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000844.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS557124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000845.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS557125"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000846.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS557126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000847.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS557127"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000848.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS557128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000849.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS557129"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 585,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 581,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000850.1:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS670368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.3:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "CCCAGCCTGCTTC",
          "start": 537,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.3:c.348-9_351del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}