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        "hgvsWellDefined": "XP_005254752.1:p.Tyr2255_Gly2357delinsAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6910,
          "referenceAllele": "C",
          "start": 6909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.6879C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:p.Tyr2293Ter",
        "hgvsWellDefined": "XP_006720763.1:p.Tyr2293_Gly2395delinsAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6946,
          "referenceAllele": "C",
          "start": 6945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.6915C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Tyr2305Ter",
        "hgvsWellDefined": "XP_016878123.1:p.Tyr2305_Gly2407delinsAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4863,
          "referenceAllele": "C",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.3900C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:p.Tyr1300Ter",
        "hgvsWellDefined": "XP_016878125.1:p.Tyr1300_Gly1402delinsAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344389",
      "coordinates": [
        {
          "allele": "A",
          "end": 7038,
          "referenceAllele": "C",
          "start": 7037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.7023C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Tyr2341Ter",
        "hgvsWellDefined": "NP_079413.3:p.Tyr2341_Gly2443delinsAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.7023C>A"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.7023C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Tyr2341Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Tyr2341Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948625",
      "coordinates": [
        {
          "allele": "A",
          "end": 6699,
          "referenceAllele": "C",
          "start": 6698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.6684C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Tyr2228Ter",
        "hgvsWellDefined": "NP_001153699.1:p.Tyr2228_Gly2330delinsAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}