{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277006",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49711[alleleid]",
        "alleleId": 49711,
        "preferredName": "NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41287",
        "RCV": [
          "RCV000034188",
          "RCV000192703"
        ],
        "variationId": 41287
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44918575A>C?assembly=hg19",
        "id": "chr15:g.44918575A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44626377A>C?assembly=hg38",
        "id": "chr15:g.44626377A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/312262739",
        "rs": 312262739
      }
    ]
  },
  "genomicAlleles": [
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      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 44626377,
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          "start": 44626376
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      ],
      "hgvs": [
        "NC_000015.10:g.44626377A>C",
        "CM000677.2:g.44626377A>C"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
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          "end": 44918575,
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          "start": 44918574
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      ],
      "hgvs": [
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        "CM000677.1:g.44918575A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NC_000015.8:g.42705867A>C"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
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          "end": 42302,
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          "start": 42301
        }
      ],
      "hgvs": [
        "NG_008885.1:g.42302T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
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      "hgvs": [
        "ENST00000682065.1:c.2198T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507025.1:p.Leu733Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000508334.1:p.Leu733Ter",
        "hgvsWellDefined": "ENSP00000508334.1:p.Leu733_Leu1221delinsLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAlaLeuTrpGluValLysValGlyArgSerProGluAlaArgSerSerArgProAlaTrpProThrTrpArgAsnProValSerThrMetHisGlyValIleSerHisIleSerLeuAlaLeuThrTrpLeuIleAsnMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "geneNCBI_id": 80208,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000507166.1:p.Leu733_Glu1210delinsLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspGlyValLeuPheArgProGlyTrpSerAlaValAlaArgSerArgSerArgLeuAlaAlaSerCysAlaSerArgValHisAlaIleLeuLeuProGlnProProGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
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        {
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      ],
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      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:p.Leu733Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000508089.1:p.Leu733Ter",
        "hgvsWellDefined": "ENSP00000508089.1:p.Leu733_Asp1639delinsLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyLysGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682877.1:n.2229T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
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      "hgvs": [
        "ENST00000682915.1:c.2198T>G"
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      "proteinEffect": {
        "hgvs": "ENSP00000507493.1:p.Leu733Ter",
        "hgvsWellDefined": "ENSP00000507493.1:p.Leu733_Leu1197delinsLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyGlyIleArgSerGlnCysGluLysSerLeuGluPheHisGluLysThrGlnLeuTyrPheArgAsnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000507557.1:p.Leu733_Trp1492delinsLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnValArgIleMetArgSerLeuLysIleProArgTyrTyrTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "T",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683186.1:c.2198T>G"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "T",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.1:n.2229T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "T",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.3:c.2198T>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_006720764.1:p.Leu733_Met1584delinsLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "T",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.2198T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Leu733Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "T",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022635.2:c.2198T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878124.1:p.Leu733Ter",
        "hgvsWellDefined": "XP_016878124.1:p.Leu733_Lys1600delinsLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrSerArgValAsnTyrGluThrIleValThrGluAsnGlnIleLeuValPheGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145,
          "referenceAllele": "T",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.-819T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:n.-819T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "T",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_001751402.1:n.2229T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "T",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.2229T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "T",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.2198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Leu733Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.2198T>G"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.2198T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Leu733Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Leu733Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "T",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.2198T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Leu733Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}