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        "hgvsWellDefined": "NP_001191326.1:p.Tyr167_Val317delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271650",
      "coordinates": [
        {
          "allele": "AA",
          "end": 717,
          "referenceAllele": "CG",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204398.1:c.501_502delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191327.1:p.Tyr167Ter",
        "hgvsWellDefined": "NP_001191327.1:p.Tyr167_Val317delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271733",
      "coordinates": [
        {
          "allele": "AA",
          "end": 579,
          "referenceAllele": "CG",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204399.1:c.363_364delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191328.1:p.Tyr121Ter",
        "hgvsWellDefined": "NP_001191328.1:p.Tyr121_Val271delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327803",
      "coordinates": [
        {
          "allele": "AA",
          "end": 2091,
          "referenceAllele": "CG",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.2:c.501_502delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Tyr167Ter",
        "hgvsWellDefined": "NP_700475.1:p.Tyr167_Val317delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830328015",
      "coordinates": [
        {
          "allele": "AA",
          "end": 1953,
          "referenceAllele": "CG",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.2:c.363_364delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Tyr121Ter",
        "hgvsWellDefined": "NP_700476.1:p.Tyr121_Val271delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042386"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 531,
          "referenceAllele": "CG",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_006714235.2:c.501_502delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714298.1:p.Tyr167Ter",
        "hgvsWellDefined": "XP_006714298.1:p.Tyr167_Val317delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070560"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1805,
          "referenceAllele": "CG",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_011532027.1:c.363_364delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530329.1:p.Tyr121Ter",
        "hgvsWellDefined": "XP_011530329.1:p.Tyr121_Val271delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099055"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 888,
          "referenceAllele": "CG",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "XM_024454090.1:c.168_169delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309858.1:p.Tyr56Ter",
        "hgvsWellDefined": "XP_024309858.1:p.Tyr56_Val206delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139674468",
      "coordinates": [
        {
          "allele": "AA",
          "end": 1140,
          "referenceAllele": "CG",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_000325.6:c.522_523delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Tyr174Ter",
        "hgvsWellDefined": "NP_000316.2:p.Tyr174_Val324delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.522_523delinsAA"
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.522_523delinsAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Tyr174Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Tyr174Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271566",
      "coordinates": [
        {
          "allele": "AA",
          "end": 977,
          "referenceAllele": "CG",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.501_502delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Tyr167Ter",
        "hgvsWellDefined": "NP_001191326.1:p.Tyr167_Val317delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327803",
      "coordinates": [
        {
          "allele": "AA",
          "end": 743,
          "referenceAllele": "CG",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.501_502delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Tyr167Ter",
        "hgvsWellDefined": "NP_700475.1:p.Tyr167_Val317delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830328015",
      "coordinates": [
        {
          "allele": "AA",
          "end": 605,
          "referenceAllele": "CG",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.363_364delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Tyr121Ter",
        "hgvsWellDefined": "NP_700476.1:p.Tyr121_Val271delinsAspAspMetTyrProGlyTyrSerTyrAsnAsnTrpAlaAlaLysGlyLeuThrSerAlaSerLeuSerThrLysSerPheProPhePheAsnSerMetAsnValAsnProLeuSerSerGlnSerMetPheSerProProAsnSerIleSerSerMetSerMetSerSerSerMetValProSerAlaValThrGlyValProGlySerSerLeuAsnSerLeuAsnAsnLeuAsnAsnLeuSerSerProSerLeuAsnSerAlaValProThrProAlaCysProTyrAlaProProThrProProTyrValTyrArgAspThrCysAsnSerSerLeuAlaSerLeuArgLeuLysAlaLysGlnHisSerSerPheGlyTyrAlaSerValGlnAsnProAlaSerAsnLeuSerAlaCysGlnTyrAlaValAspArgProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}