{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA166507",
  "communityStandardTitle": [
    "NM_005591.4(MRE11):c.508C>T (p.Gln170Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151527[alleleid]",
        "alleleId": 151527,
        "preferredName": "NM_005591.4(MRE11):c.508C>T (p.Gln170Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141813",
        "RCV": [
          "RCV000130478"
        ],
        "variationId": 141813
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.94211937G>A?assembly=hg19",
        "id": "chr11:g.94211937G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.94478771G>A?assembly=hg38",
        "id": "chr11:g.94478771G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587782030",
        "rs": 587782030
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 94478771,
          "referenceAllele": "G",
          "start": 94478770
        }
      ],
      "hgvs": [
        "NC_000011.10:g.94478771G>A",
        "CM000673.2:g.94478771G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 94211937,
          "referenceAllele": "G",
          "start": 94211936
        }
      ],
      "hgvs": [
        "NC_000011.9:g.94211937G>A",
        "CM000673.1:g.94211937G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
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        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20104,
          "referenceAllele": "C",
          "start": 20103
        }
      ],
      "hgvs": [
        "NG_007261.1:g.20104C>T",
        "LRG_85:g.20104C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "start": 666
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      ],
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      "geneSymbol": "MRE11",
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      "referenceSequence": "http://reg.genome.network/refseq/RS746596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_005591.4:c.508C>T"
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          "RefSeq": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000326094.3:p.Gln170_Arg680delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000376933.4:p.Gln170_Arg707delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAspThrGlyLeuGluThrSerThrArgSerArgAsnSerLysThrAlaValSerAlaSerArgAsnMetSerIleIleAspAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
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      ],
      "gene": "http://reg.genome.network/gene/GN007230",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000385614.3:p.Gln173_Arg711delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAlaAspThrGlyLeuGluThrSerThrArgSerArgAsnSerLysThrAlaValSerAlaSerArgAsnMetSerIleIleAspAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
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      "geneSymbol": "MRE11",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000440986.1:p.Gln170_Val221delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS362784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829606106",
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        {
          "allele": "T",
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        "hgvs": "NP_005581.2:p.Gln170Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166509",
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
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      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_005591.3:c.508C>T",
        "LRG_85t1:c.508C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005582.1:p.Gln170_Arg708delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAlaAspThrGlyLeuGluThrSerThrArgSerArgAsnSerLysThrAlaValSerAlaSerArgAsnMetSerIleIleAspAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS030679"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067797"
    },
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        {
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          "end": 804,
          "referenceAllele": "C",
          "start": 803
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072817"
    },
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        {
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          "start": 709
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      "referenceSequence": "http://reg.genome.network/refseq/RS109766"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS141408"
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    {
      "@id": "http://reg.genome.network/allele/PA2827303378",
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        {
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          "referenceAllele": "C",
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      "referenceSequence": "http://reg.genome.network/refseq/RS516733"
    },
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        {
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          "start": 411
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
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          "start": 803
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016873261.1:p.Gln170Ter",
        "hgvsWellDefined": "XP_016873261.1:p.Gln170_Arg708delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAlaAspThrGlyLeuGluThrSerThrArgSerArgAsnSerLysThrAlaValSerAlaSerArgAsnMetSerIleIleAspAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "XR_947828.2:n.804C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827303378",
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_001330347.2:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317276.1:p.Gln170Ter",
        "hgvsWellDefined": "NP_001317276.1:p.Gln170_Arg707delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAspThrGlyLeuGluThrSerThrArgSerArgAsnSerLysThrAlaValSerAlaSerArgAsnMetSerIleIleAspAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829606106",
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_005590.4:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005581.2:p.Gln170Ter",
        "hgvsWellDefined": "NP_005581.2:p.Gln170_Arg680delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166509",
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007230",
      "geneNCBI_id": 4361,
      "geneSymbol": "MRE11",
      "hgvs": [
        "NM_005591.4:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005582.1:p.Gln170Ter",
        "hgvsWellDefined": "NP_005582.1:p.Gln170_Arg708delinsLysGlySerThrLysIleAlaLeuTyrGlyLeuGlySerIleProAspGluArgLeuTyrArgMetPheValAsnLysLysValThrMetLeuArgProLysGluAspGluAsnSerTrpPheAsnLeuPheValIleHisGlnAsnArgSerLysHisGlySerThrAsnPheIleProGluGlnPheLeuAspAspPheIleAspLeuValIleTrpGlyHisGluHisGluCysLysIleAlaProThrLysAsnGluGlnGlnLeuPheTyrIleSerGlnProGlySerSerValValThrSerLeuSerProGlyGluAlaValLysLysHisValGlyLeuLeuArgIleLysGlyArgLysMetAsnMetHisLysIleProLeuHisThrValArgGlnPhePheMetGluAspIleValLeuAlaAsnHisProAspIlePheAsnProAspAsnProLysValThrGlnAlaIleGlnSerPheCysLeuGluLysIleGluGluMetLeuGluAsnAlaGluArgGluArgLeuGlyAsnSerHisGlnProGluLysProLeuValArgLeuArgValAspTyrSerGlyGlyPheGluProPheSerValLeuArgPheSerGlnLysPheValAspArgValAlaAsnProLysAspIleIleHisPhePheArgHisArgGluGlnLysGluLysThrGlyGluGluIleAsnPheGlyLysLeuIleThrLysProSerGluGlyThrThrLeuArgValGluAspLeuValLysGlnTyrPheGlnThrAlaGluLysAsnValGlnLeuSerLeuLeuThrGluArgGlyMetGlyGluAlaValGlnGluPheValAspLysGluGluLysAspAlaIleGluGluLeuValLysTyrGlnLeuGluLysThrGlnArgPheLeuLysGluArgHisIleAspAlaLeuGluAspLysIleAspGluGluValArgArgPheArgGluThrArgGlnLysAsnThrAsnGluGluAspAspGluValArgGluAlaMetThrArgAlaArgAlaLeuArgSerGlnSerGluGluSerAlaSerAlaPheSerAlaAspAspLeuMetSerIleAspLeuAlaGluGlnMetAlaAsnAspSerAspAspSerIleSerAlaAlaThrAsnLysGlyArgGlyArgGlyArgGlyArgArgGlyGlyArgGlyGlnAsnSerAlaSerArgGlyGlySerGlnArgGlyArgAlaAspThrGlyLeuGluThrSerThrArgSerArgAsnSerLysThrAlaValSerAlaSerArgAsnMetSerIleIleAspAlaPheLysSerThrArgGlnGlnProSerArgAsnValThrThrLysAsnTyrSerGluValIleGluValAspGluSerAspValGluGluAspIlePheProThrThrSerLysThrAspGlnArgTrpSerSerThrSerSerSerLysIleMetSerGlnSerGlnValSerLysGlyValAspPheGluSerSerGluAspAspAspAspAspProPheMetAsnThrSerSerLeuArgArgAsnArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696467",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323929.8:c.508C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005591.4:c.508C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325863.4:p.Gln170Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005582.1:p.Gln170Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}