{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA249946",
  "communityStandardTitle": [
    "NM_007254.4(PNKP):c.1251_1252insACGGGTCGCCATCGACA (p.Arg418ThrfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181462[alleleid]",
        "alleleId": 181462,
        "preferredName": "NM_007254.4(PNKP):c.1251_1252insACGGGTCGCCATCGACA (p.Arg418fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183318",
        "RCV": [
          "RCV000162138"
        ],
        "variationId": 183318
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50365076_50365077insGTCGATGGCGACCCGTT?assembly=hg19",
        "id": "chr19:g.50365076_50365077insGTCGATGGCGACCCGTT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.49861819_49861820insGTCGATGGCGACCCGTT?assembly=hg38",
        "id": "chr19:g.49861819_49861820insGTCGATGGCGACCCGTT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730882224",
        "rs": 730882224
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GTCGATGGCGACCCGTT",
          "end": 49861819,
          "referenceAllele": "",
          "start": 49861819
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49861819_49861820insGTCGATGGCGACCCGTT",
        "CM000681.2:g.49861819_49861820insGTCGATGGCGACCCGTT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GTCGATGGCGACCCGTT",
          "end": 50365076,
          "referenceAllele": "",
          "start": 50365076
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50365076_50365077insGTCGATGGCGACCCGTT",
        "CM000681.1:g.50365076_50365077insGTCGATGGCGACCCGTT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "GTCGATGGCGACCCGTT",
          "end": 55056888,
          "referenceAllele": "",
          "start": 55056888
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55056888_55056889insGTCGATGGCGACCCGTT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 10747,
          "referenceAllele": "",
          "start": 10747
        }
      ],
      "hgvs": [
        "NG_027717.1:g.10747_10748insACGGGTCGCCATCGACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003925"
    },
    {
      "coordinates": [
        {
          "allele": "GTCGATGGCGACCCGTT",
          "end": 17976,
          "referenceAllele": "",
          "start": 17976
        }
      ],
      "hgvs": [
        "NG_050666.1:g.17976_17977insGTCGATGGCGACCCGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1372,
          "referenceAllele": "",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.8:c.1251_1252insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Arg418ThrfsTer?",
        "hgvsWellDefined": "ENSP00000323511.2:p.[Arg418_Asn425delinsThrGlyArgHisArgHisGlySer;Asp427_Ala429del;Arg431_Val435delinsThrThrGlnThr;Cys437_Ala438delinsThrPro;Ala441_Gly442insPro;Gly442_Val443insThrSerSer;Cys445delinsGluPro;Cys447delinsAlaSerProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.1251_1252insACGGGTCGCCATCGACA"
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.1251_1252insACGGGTCGCCATCGACA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Arg418ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Arg418ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1682,
          "referenceAllele": "",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.7:c.1251_1252insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Arg418ThrfsTer?",
        "hgvsWellDefined": "ENSP00000323511.2:p.[Arg418_Asn425delinsThrGlyArgHisArgHisGlySer;Asp427_Ala429del;Arg431_Val435delinsThrThrGlnThr;Cys437_Ala438delinsThrPro;Ala441_Gly442insPro;Gly442_Val443insThrSerSer;Cys445delinsGluPro;Cys447delinsAlaSerProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258079"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 847,
          "referenceAllele": "",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593706.3:n.847_848insACGGGTCGCCATCGACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394319"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1364,
          "referenceAllele": "",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593946.5:c.*1178_*1179insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468896.1:n.*1178_*1179insACGGGTCGCCATCGACA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394426"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1752,
          "referenceAllele": "",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000594661.5:n.1752_1753insACGGGTCGCCATCGACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394742"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 78,
          "referenceAllele": "",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000595081.5:n.78_79insACGGGTCGCCATCGACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394915"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1333,
          "referenceAllele": "",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000596014.5:c.1251_1252insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472300.1:p.Arg418ThrfsTer?",
        "hgvsWellDefined": "ENSP00000472300.1:p.[Arg418_Asn425delinsThrGlyArgHisArgHisGlySer;Asp427_Ala429del;Arg431_Val435delinsThrThrGlnThr;Cys437_Ala438delinsThrPro;Ala441_Gly442insPro;Gly442_Val443insThrSerSer;Cys445delinsGluPro;Cys447delinsAlaSerProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395348"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 95,
          "referenceAllele": "",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000599454.5:n.95_96insACGGGTCGCCATCGACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396835"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1279,
          "referenceAllele": "",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600573.5:c.1158_1159insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469826.1:p.Arg387ThrfsTer?",
        "hgvsWellDefined": "ENSP00000469826.1:p.[Arg387_Asn394delinsThrGlyArgHisArgHisGlySer;Asp396_Ala398del;Arg400_Val404delinsThrThrGlnThr;Cys406_Ala407delinsThrPro;Ala410_Gly411insPro;Gly411_Val412insThrSerSer;Cys414delinsGluPro;Cys416delinsAlaSerProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397349"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1288,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "",
          "start": 1288,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600910.5:c.1189-124_1189-123insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473137.1:n.1189-124_1189-123insACGGGTCGCCATCGACA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397492"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 150,
          "referenceAllele": "",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000601816.3:n.150_151insACGGGTCGCCATCGACA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397907"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 332,
          "referenceAllele": "",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000625216.2:c.332_333insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486898.1:n.332_333insACGGGTCGCCATCGACA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406541"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1171,
          "referenceAllele": "",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627232.2:c.1171_1172insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486037.1:n.1171_1172insACGGGTCGCCATCGACA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406857"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1197,
          "referenceAllele": "",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000631020.2:c.1143_1144insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486707.1:p.Arg382ThrfsTer?",
        "hgvsWellDefined": "ENSP00000486707.1:p.[Arg382_Asn389delinsThrGlyArgHisArgHisGlySer;Asp391_Ala393del;Arg395_Val399delinsThrThrGlnThr;Cys401_Ala402delinsThrPro;Ala405_Gly406insPro;Gly406_Val407insThrSerSer;Cys409delinsGluPro;Cys411delinsAlaSerProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407458"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1361,
          "referenceAllele": "",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.3:c.1251_1252insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Arg418ThrfsTer?",
        "hgvsWellDefined": "NP_009185.2:p.[Arg418_Asn425delinsThrGlyArgHisArgHisGlySer;Asp427_Ala429del;Arg431_Val435delinsThrThrGlnThr;Cys437_Ala438delinsThrPro;Ala441_Gly442insPro;Gly442_Val443insThrSerSer;Cys445delinsGluPro;Cys447delinsAlaSerProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032176"
    },
    {
      "coordinates": [
        {
          "allele": "ACGGGTCGCCATCGACA",
          "end": 1372,
          "referenceAllele": "",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.4:c.1251_1252insACGGGTCGCCATCGACA"
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Arg418ThrfsTer?",
        "hgvsWellDefined": "NP_009185.2:p.[Arg418_Asn425delinsThrGlyArgHisArgHisGlySer;Asp427_Ala429del;Arg431_Val435delinsThrThrGlnThr;Cys437_Ala438delinsThrPro;Ala441_Gly442insPro;Gly442_Val443insThrSerSer;Cys445delinsGluPro;Cys447delinsAlaSerProAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.1251_1252insACGGGTCGCCATCGACA"
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.1251_1252insACGGGTCGCCATCGACA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Arg418ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Arg418ThrfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}