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        "hgvsWellDefined": "NP_003978.3:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525158"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 702,
          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.4:c.131_152del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_003979.2:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525159"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 702,
          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.4:c.131_152del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_003980.3:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 702,
          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.131_152del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_003981.3:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 831,
          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.131_152del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_000269.3:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.131_152del"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.131_152del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Leu44ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Leu44ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 558,
          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
          "start": 536
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.224_245del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Leu75ProfsTer?",
        "hgvsWellDefined": "NP_001291498.1:p.[Leu75_Pro82delinsProValThrSerProGlySer;Asp84_Ile85delinsGly;Arg87_Arg90delinsAlaThrAla;His93_Val96delinsAlaLys;Lys98_Leu100delinsTrpAla;Arg102_Gly107delinsThrThrArgProAlaAla;Ile109_Pro111delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.131_152del"
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      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_003978.3:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.131_152del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_003979.2:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 831,
          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.131_152del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_003980.3:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 831,
          "referenceAllele": "TGGCCCACCAGGGTGTGCGGCC",
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.131_152del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Leu44ProfsTer?",
        "hgvsWellDefined": "NP_003981.3:p.[Leu44_Pro51delinsProValThrSerProGlySer;Asp53_Ile54delinsGly;Arg56_Arg59delinsAlaThrAla;His62_Val65delinsAlaLys;Lys67_Leu69delinsTrpAla;Arg71_Gly76delinsThrThrArgProAlaAla;Ile78_Pro80delinsSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}