{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA316528",
  "communityStandardTitle": [
    "NC_000019.10:g.49861770_49861777dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203582[alleleid]",
        "alleleId": 203582,
        "preferredName": "NM_007254.4(PNKP):c.1293_1298+2dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206427",
        "RCV": [
          "RCV000188472"
        ],
        "variationId": 206427
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50365027_50365034dupACCTGGCG?assembly=hg19",
        "id": "chr19:g.50365027_50365034dupACCTGGCG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50365026_50365027insACCTGGCG?assembly=hg19",
        "id": "chr19:g.50365026_50365027insACCTGGCG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.49861770_49861777dupACCTGGCG?assembly=hg38",
        "id": "chr19:g.49861770_49861777dupACCTGGCG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.49861769_49861770insACCTGGCG?assembly=hg38",
        "id": "chr19:g.49861769_49861770insACCTGGCG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052861",
        "rs": 796052861
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACCTGGCG",
          "end": 49861777,
          "referenceAllele": "",
          "start": 49861777
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49861770_49861777dup",
        "CM000681.2:g.49861770_49861777dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACCTGGCG",
          "end": 50365034,
          "referenceAllele": "",
          "start": 50365034
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50365027_50365034dup",
        "CM000681.1:g.50365027_50365034dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "ACCTGGCG",
          "end": 55056846,
          "referenceAllele": "",
          "start": 55056846
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55056839_55056846dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 10796,
          "referenceAllele": "",
          "start": 10796
        }
      ],
      "hgvs": [
        "NG_027717.1:g.10789_10796dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003925"
    },
    {
      "coordinates": [
        {
          "allele": "ACCTGGCG",
          "end": 17934,
          "referenceAllele": "",
          "start": 17934
        }
      ],
      "hgvs": [
        "NG_050666.1:g.17927_17934dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1419,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1419,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.8:c.1293_1298+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS746491"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1729,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1729,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.7:c.1293_1298+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS258079"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1411,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1411,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593946.5:c.*1220_*1225+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394426"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1799,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1799,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000594661.5:n.1794_1799+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394742"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 127,
          "referenceAllele": "",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000595081.5:n.120_127dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394915"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1380,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1380,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000596014.5:c.1293_1298+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395348"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 144,
          "referenceAllele": "",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000599454.5:n.137_144dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396835"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1326,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1326,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600573.5:c.1200_1205+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397349"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 74,
          "referenceAllele": "",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600910.5:c.1189-82_1189-75dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473137.1:n.1189-82_1189-75dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397492"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 199,
          "referenceAllele": "",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000601816.3:n.192_199dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397907"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000625216.2:c.374_379+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406541"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1218,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1218,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627232.2:c.1213_1218+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406857"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000631020.2:c.1185_1190+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407458"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1408,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1408,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.3:c.1293_1298+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS032176"
    },
    {
      "coordinates": [
        {
          "allele": "CGCCAGGT",
          "end": 1419,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1419,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.4:c.1293_1298+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS667833"
    }
  ],
  "type": "nucleotide"
}