{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377590491",
  "communityStandardTitle": [
    "NM_004523.4(KIF11):c.934C>T (p.Arg312Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1062034[alleleid]",
        "alleleId": 1062034,
        "preferredName": "NM_004523.4(KIF11):c.934C>T (p.Arg312Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075991",
        "RCV": [
          "RCV001389722",
          "RCV002274195",
          "RCV003485716"
        ],
        "variationId": 1075991
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94373278C>T?assembly=hg19",
        "id": "chr10:g.94373278C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.92613521C>T?assembly=hg38",
        "id": "chr10:g.92613521C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2135905068",
        "rs": 2135905068
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 92613521,
          "referenceAllele": "C",
          "start": 92613520
        }
      ],
      "hgvs": [
        "NC_000010.11:g.92613521C>T",
        "CM000672.2:g.92613521C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94373278,
          "referenceAllele": "C",
          "start": 94373277
        }
      ],
      "hgvs": [
        "NC_000010.10:g.94373278C>T",
        "CM000672.1:g.94373278C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 94363258,
          "referenceAllele": "C",
          "start": 94363257
        }
      ],
      "hgvs": [
        "NC_000010.9:g.94363258C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25454,
          "referenceAllele": "C",
          "start": 25453
        }
      ],
      "hgvs": [
        "NG_032580.1:g.25454C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005174"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000260731.5:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260731.3:p.Arg312Ter",
        "hgvsWellDefined": "ENSP00000260731.3:p.Arg312_Leu1056delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260731.5:c.934C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.934C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260731.3:p.Arg312Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004514.2:p.Arg312Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676621.1:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503639.1:p.Arg312Ter",
        "hgvsWellDefined": "ENSP00000503639.1:p.Arg312_Glu533delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysSerLeuSerLeuSerProArgLeuGluTrpGlnTrpHisAsnLeuTrpLeuThrAlaThrSerThrSerGlnValGlnAlaIleLeuLeuProGlnProLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676647.1:c.727C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503394.1:p.Arg243Ter",
        "hgvsWellDefined": "ENSP00000503394.1:p.Arg243_Leu987delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000676757.1:c.727C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504289.1:p.Arg243Ter",
        "hgvsWellDefined": "ENSP00000504289.1:p.Arg243_Leu987delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000677720.1:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504840.1:p.Arg312Ter",
        "hgvsWellDefined": "ENSP00000504840.1:p.Arg312_Asn673delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysLysIleLysLysArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "ENST00000260731.4:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260731.3:p.Arg312Ter",
        "hgvsWellDefined": "ENSP00000260731.3:p.Arg312_Leu1056delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499268045",
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.3:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Arg312Ter",
        "hgvsWellDefined": "NP_004514.2:p.Arg312_Leu1056delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499268045",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NM_004523.4:c.934C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004514.2:p.Arg312Ter",
        "hgvsWellDefined": "NP_004514.2:p.Arg312_Leu1056delinsGluSerLysLeuThrArgIleLeuGlnAspSerLeuGlyGlyArgThrArgThrSerIleIleAlaThrIleSerProAlaSerLeuAsnLeuGluGluThrLeuSerThrLeuGluTyrAlaHisArgAlaLysAsnIleLeuAsnLysProGluValAsnGlnLysLeuThrLysLysAlaLeuIleLysGluTyrThrGluGluIleGluArgLeuLysArgAspLeuAlaAlaAlaArgGluLysAsnGlyValTyrIleSerGluGluAsnPheArgValMetSerGlyLysLeuThrValGlnGluGluGlnIleValGluLeuIleGluLysIleGlyAlaValGluGluGluLeuAsnArgValThrGluLeuPheMetAspAsnLysAsnGluLeuAspGlnCysLysSerAspLeuGlnAsnLysThrGlnGluLeuGluThrThrGlnLysHisLeuGlnGluThrLysLeuGlnLeuValLysGluGluTyrIleThrSerAlaLeuGluSerThrGluGluLysLeuHisAspAlaAlaSerLysLeuLeuAsnThrValGluGluThrThrLysAspValSerGlyLeuHisSerLysLeuAspArgLysLysAlaValAspGlnHisAsnAlaGluAlaGlnAspIlePheGlyLysAsnLeuAsnSerLeuPheAsnAsnMetGluGluLeuIleLysAspGlySerSerLysGlnLysAlaMetLeuGluValHisLysThrLeuPheGlyAsnLeuLeuSerSerSerValSerAlaLeuAspThrIleThrThrValAlaLeuGlySerLeuThrSerIleProGluAsnValSerThrHisValSerGlnIlePheAsnMetIleLeuLysGluGlnSerLeuAlaAlaGluSerLysThrValLeuGlnGluLeuIleAsnValLeuLysThrAspLeuLeuSerSerLeuGluMetIleLeuSerProThrValValSerIleLeuLysIleAsnSerGlnLeuLysHisIlePheLysThrSerLeuThrValAlaAspLysIleGluAspGlnLysLysGluLeuAspGlyPheLeuSerIleLeuCysAsnAsnLeuHisGluLeuGlnGluAsnThrIleCysSerLeuValGluSerGlnLysGlnCysGlyAsnLeuThrGluAspLeuLysThrIleLysGlnThrHisSerGlnGluLeuCysLysLeuMetAsnLeuTrpThrGluArgPheCysAlaLeuGluGluLysCysGluAsnIleGlnLysProLeuSerSerValGlnGluAsnIleGlnGlnLysSerLysAspIleValAsnLysMetThrPheHisSerGlnLysPheCysAlaAspSerAspGlyPheSerGlnGluLeuArgAsnPheAsnGlnGluGlyThrLysLeuValGluGluSerValLysHisSerAspLysLeuAsnGlyAsnLeuGluLysIleSerGlnGluThrGluGlnArgCysGluSerLeuAsnThrArgThrValTyrPheSerGluGlnTrpValSerSerLeuAsnGluArgGluGlnGluLeuHisAsnLeuLeuGluValValSerGlnCysCysGluAlaSerSerSerAspIleThrGluLysSerAspGlyArgLysAlaAlaHisGluLysGlnHisAsnIlePheLeuAspGlnMetThrIleAspGluAspLysLeuIleAlaGlnAsnLeuGluLeuAsnGluThrIleLysIleGlyLeuThrLysLeuAsnCysPheLeuGluGlnAspLeuLysLeuAspIleProThrGlyThrThrProGlnArgLysSerTyrLeuTyrProSerThrLeuValArgThrGluProArgGluHisLeuLeuAspGlnLeuLysArgLysGlnProGluLeuLeuMetMetLeuAsnCysSerGluAsnAsnLysGluGluThrIleProAspValAspValGluGluAlaValLeuGlyGlnTyrThrGluGluProLeuSerGlnGluProSerValAspAlaGlyValAspCysSerSerIleGlyGlyValProPhePheGlnHisLysLysSerHisGlyLysAspLysGluAsnArgGlyIleAsnThrLeuGluArgSerLysValGluGluThrThrGluHisLeuValThrLysSerArgLeuProLeuArgAlaGlnIleAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260731.5:c.934C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004523.4:c.934C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260731.3:p.Arg312Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004514.2:p.Arg312Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}