{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128629",
  "communityStandardTitle": [
    "NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=198620",
        "active": true,
        "id": "COSM198620"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38723[alleleid]",
        "alleleId": 38723,
        "preferredName": "NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29768",
        "RCV": [
          "RCV000022634"
        ],
        "variationId": 29768
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94381172C>T?assembly=hg19",
        "id": "chr10:g.94381172C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.92621415C>T?assembly=hg38",
        "id": "chr10:g.92621415C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906641",
        "rs": 387906641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 92621415,
          "referenceAllele": "C",
          "start": 92621414
        }
      ],
      "hgvs": [
        "NC_000010.11:g.92621415C>T",
        "CM000672.2:g.92621415C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94381172,
          "referenceAllele": "C",
          "start": 94381171
        }
      ],
      "hgvs": [
        "NC_000010.10:g.94381172C>T",
        "CM000672.1:g.94381172C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94371152,
          "referenceAllele": "C",
          "start": 94371151
        }
      ],
      "hgvs": [
        "NC_000010.9:g.94371152C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33348,
          "referenceAllele": "C",
          "start": 33347
        }
      ],
      "hgvs": [
        "NG_032580.1:g.33348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005174"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000260731.5:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260731.3:p.Arg387Ter",
        "hgvsWellDefined": "ENSP00000260731.3:p.Arg387_Leu1056delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260731.5:c.1159C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.1159C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260731.3:p.Arg387Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004514.2:p.Arg387Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676621.1:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503639.1:p.Arg387Ter",
        "hgvsWellDefined": "ENSP00000503639.1:p.Arg387_Glu533delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysSerLeuSerLeuSerProArgLeuGluTrpGlnTrpHisAsnLeuTrpLeuThrAlaThrSerThrSerGlnValGlnAlaIleLeuLeuProGlnProLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676647.1:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503394.1:p.Arg318Ter",
        "hgvsWellDefined": "ENSP00000503394.1:p.Arg318_Leu987delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676757.1:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504289.1:p.Arg318Ter",
        "hgvsWellDefined": "ENSP00000504289.1:p.Arg318_Leu987delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000677720.1:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504840.1:p.Arg387Ter",
        "hgvsWellDefined": "ENSP00000504840.1:p.Arg387_Asn673delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysLysIleLysLysArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000260731.4:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260731.3:p.Arg387Ter",
        "hgvsWellDefined": "ENSP00000260731.3:p.Arg387_Leu1056delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128630",
      "coordinates": [
        {
          "allele": "T",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.3:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Arg387Ter",
        "hgvsWellDefined": "NP_004514.2:p.Arg387_Leu1056delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128630",
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.4:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Arg387Ter",
        "hgvsWellDefined": "NP_004514.2:p.Arg387_Leu1056delinsAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260731.5:c.1159C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.1159C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260731.3:p.Arg387Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004514.2:p.Arg387Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}