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          "end": 1352,
          "referenceAllele": "GGCGTCCCGGGCTCCAGTGACA",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_000325.6:c.714_735del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000316.2:p.Thr239SerfsTer4",
        "hgvsWellDefined": "NP_000316.2:p.[Thr239_Gly243del;Ser245_Pro265del;Pro267del;Cys269_Thr275del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644743.1:c.714_735del"
          },
          "RefSeq": {
            "hgvs": "NM_000325.6:c.714_735del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495061.1:p.Thr239SerfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000316.2:p.Thr239SerfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1189,
          "referenceAllele": "GGCGTCCCGGGCTCCAGTGACA",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_001204397.2:c.693_714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191326.1:p.Thr232SerfsTer4",
        "hgvsWellDefined": "NP_001191326.1:p.[Thr232_Gly236del;Ser238_Pro258del;Pro260del;Cys262_Thr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 955,
          "referenceAllele": "GGCGTCCCGGGCTCCAGTGACA",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153426.3:c.693_714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_700475.1:p.Thr232SerfsTer4",
        "hgvsWellDefined": "NP_700475.1:p.[Thr232_Gly236del;Ser238_Pro258del;Pro260del;Cys262_Thr268del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784313"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 817,
          "referenceAllele": "GGCGTCCCGGGCTCCAGTGACA",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NM_153427.3:c.555_576del"
      ],
      "proteinEffect": {
        "hgvs": "NP_700476.1:p.Thr186SerfsTer4",
        "hgvsWellDefined": "NP_700476.1:p.[Thr186_Gly190del;Ser192_Pro212del;Pro214del;Cys216_Thr222del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784314"
    }
  ],
  "type": "nucleotide"
}