{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2340622432",
  "communityStandardTitle": [
    "NM_007254.4(PNKP):c.1189-2A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767645983",
        "rs": 767645983
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 49861883,
          "referenceAllele": "T",
          "start": 49861882
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49861883T=",
        "CM000681.2:g.49861883T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50365140,
          "referenceAllele": "T",
          "start": 50365139
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50365140T=",
        "CM000681.1:g.50365140T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55056952,
          "referenceAllele": "T",
          "start": 55056951
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55056952T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10683,
          "referenceAllele": "A",
          "start": 10682
        }
      ],
      "hgvs": [
        "NG_027717.1:g.10683A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18040,
          "referenceAllele": "T",
          "start": 18039
        }
      ],
      "hgvs": [
        "NG_050666.1:g.18040T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1309,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.8:c.1189-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:n.1189-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.1189-2A="
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.1189-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:n.1189-2A="
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:n.1189-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1619,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.7:c.1189-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:n.1189-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "A",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593706.3:n.783A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1301,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593946.5:c.*1116-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468896.1:n.*1116-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000594661.5:n.1690-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394742"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14,
          "referenceAllele": "A",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000595081.5:n.14A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1270,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1270,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000596014.5:c.1189-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472300.1:n.1189-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 32,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000599454.5:n.33-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1216,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600573.5:c.1096-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469826.1:n.1096-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1288,
          "endIntronDirection": "+",
          "endIntronOffset": 161,
          "referenceAllele": "A",
          "start": 1288,
          "startIntronDirection": "+",
          "startIntronOffset": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600910.5:c.1188+161A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473137.1:n.1188+161A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000601816.3:n.88-2A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 269,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 269,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000625216.2:c.270-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486898.1:n.270-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1108,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1108,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627232.2:c.1109-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486037.1:n.1109-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1134,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000631020.2:c.1081-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486707.1:n.1081-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1298,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.3:c.1189-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:n.1189-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1309,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.4:c.1189-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:n.1189-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.1189-2A="
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.1189-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:n.1189-2A="
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:n.1189-2A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}