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          "allele": "",
          "end": 954,
          "referenceAllele": "TC",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.721_722del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Ser241GlyfsTer29",
        "hgvsWellDefined": "NP_001350624.1:p.[Ser241_Leu245delinsGlyGlyProPro;Leu247Ala;Glu249_Asp251delinsGly;Ala253del;Leu256_Glu262delinsCysArgThrAlaSerValSer;Asp264_Leu268delinsTyrArgArgGlyPro;Glu270delinsSerValVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 736,
          "referenceAllele": "TC",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.721_722del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Ser241GlyfsTer?",
        "hgvsWellDefined": "NP_000301.1:p.[Ser241_Glu242delinsGlyValVal;Phe244_Arg248delinsIleLeuGlnLysTrpPro;Ser249_Gly250insGln;Gln251_Glu254delinsAsnHisSerLeu;Ile256_Pro257delinsGlyAsp;Gln259_Tyr264delinsProValHis;Gln266_Gly270delinsGlyProProGlyAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.721_722del"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.721_722del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Ser241GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Ser241GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 427,
          "referenceAllele": "TC",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.412_413del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Ser138GlyfsTer?",
        "hgvsWellDefined": "NP_001136076.1:p.[Ser138_Glu139delinsGlyValVal;Phe141_Arg145delinsIleLeuGlnLysTrpPro;Ser146_Gly147insGln;Gln148_Glu151delinsAsnHisSerLeu;Ile153_Pro154delinsGlyAsp;Gln156_Tyr161delinsProValHis;Gln163_Gly167delinsGlyProProGlyAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 736,
          "referenceAllele": "TC",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.721_722del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Ser241GlyfsTer29",
        "hgvsWellDefined": "NP_001350624.1:p.[Ser241_Leu245delinsGlyGlyProPro;Leu247Ala;Glu249_Asp251delinsGly;Ala253del;Leu256_Glu262delinsCysArgThrAlaSerValSer;Asp264_Leu268delinsTyrArgArgGlyPro;Glu270delinsSerValVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}