{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA164593",
  "communityStandardTitle": [
    "NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150857[alleleid]",
        "alleleId": 150857,
        "preferredName": "NM_002878.4(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141143",
        "RCV": [
          "RCV000129520",
          "RCV000559627",
          "RCV002298477"
        ],
        "variationId": 141143
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.33430485_33430491delinsAACCTCA?assembly=hg19",
        "id": "chr17:g.33430485_33430491delinsAACCTCA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.35103466_35103472delinsAACCTCA?assembly=hg38",
        "id": "chr17:g.35103466_35103472delinsAACCTCA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587781527",
        "rs": 587781527
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AACCTCA",
          "end": 35103472,
          "referenceAllele": "GACCTCC",
          "start": 35103465
        }
      ],
      "hgvs": [
        "NC_000017.11:g.35103466_35103472delinsAACCTCA",
        "CM000679.2:g.35103466_35103472delinsAACCTCA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AACCTCA",
          "end": 33430491,
          "referenceAllele": "GACCTCC",
          "start": 33430484
        }
      ],
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        "CM000679.1:g.33430485_33430491delinsAACCTCA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AACCTCA",
          "end": 30454604,
          "referenceAllele": "GACCTCC",
          "start": 30454597
        }
      ],
      "hgvs": [
        "NC_000017.9:g.30454598_30454604delinsAACCTCA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 21404,
          "referenceAllele": "GGAGGTC",
          "start": 21397
        }
      ],
      "hgvs": [
        "NG_031858.1:g.21398_21404delinsTGAGGTT",
        "LRG_516:g.21398_21404delinsTGAGGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
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      ],
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      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
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      ],
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        "hgvsWellDefined": "ENSP00000468273.3:p.Gly173_Thr283delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914331"
    },
    {
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        {
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      ],
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      "geneSymbol": "RAD51D",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914334"
    },
    {
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914341"
    },
    {
      "coordinates": [
        {
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      "geneSymbol": "RAD51D",
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        "hgvsWellDefined": "ENSP00000466839.2:p.Gly99_Thr209delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914347"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 902,
          "referenceAllele": "GGAGGTC",
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      ],
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      "geneSymbol": "RAD51D",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000338790.6:p.Gly218_Thr328delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_002878.4:c.649_655delinsTGAGGTT"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_002869.3:p.Gly217Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 451,
          "referenceAllele": "GGAGGTC",
          "start": 444
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      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260206"
    },
    {
      "coordinates": [
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          "allele": "TGAGGTT",
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          "referenceAllele": "GGAGGTC",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262160"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
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          "referenceAllele": "GGAGGTC",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000378090.4:p.Gly218_Thr328delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276233"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
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          "referenceAllele": "GGAGGTC",
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304928"
    },
    {
      "coordinates": [
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          "allele": "TGAGGTT",
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS389124"
    },
    {
      "coordinates": [
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS389246"
    },
    {
      "coordinates": [
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          "allele": "TGAGGTT",
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      ],
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000466478.1:p.Gly98_Leu141del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS390058"
    },
    {
      "coordinates": [
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          "allele": "TGAGGTT",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS390459"
    },
    {
      "coordinates": [
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          "allele": "TGAGGTT",
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      ],
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      "hgvs": [
        "ENST00000588372.5:c.*132_*138delinsTGAGGTT"
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      "referenceSequence": "http://reg.genome.network/refseq/RS390732"
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    {
      "coordinates": [
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          "allele": "TGAGGTT",
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      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS390887"
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    {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391890"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
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        }
      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS393076"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
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          "referenceAllele": "GGAGGTC",
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      ],
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000464799.1:p.Gly98_His204del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS393387"
    },
    {
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        {
          "allele": "TGAGGTT",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000466839.1:p.Gly219Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393666"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 378,
          "referenceAllele": "GGAGGTC",
          "start": 371
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      ],
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466834.1:p.Gly58Ter",
        "hgvsWellDefined": "ENSP00000466834.1:p.Gly59_Ser272delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnSerIleAspSerGluAspSerPheValProGlyArgArgAlaSerLeuSerAspLeuThrAspLeuGluAspIleGluGlyLeuThrValArgGlnLeuLysGluIleLeuAlaArgAsnPheValAsnTyrLysGlyCysCysGluLysTrpGluLeuMetGluArgValThrArgLeuTyrLysAspGlnLysGlyLeuGlnHisLeuGlyGlyAlaValProSerGlyLeuGluGluAsnLeuCysLysIleCysMetAspSerProIleAspCysValLeuLeuGluCysGlyHisMetValThrCysThrLysCysGlyLysArgMetAsnGluCysProIleCysArgGlnTyrValIleArgAlaValHisValPheArgSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915979391",
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 971,
          "referenceAllele": "GGAGGTC",
          "start": 964
        }
      ],
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      "proteinEffect": {
        "hgvs": "NP_001136043.1:p.Gly237Ter",
        "hgvsWellDefined": "NP_001136043.1:p.Gly238_Thr348delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012976"
    },
    {
      "@id": "http://reg.genome.network/allele/PA164595",
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 911,
          "referenceAllele": "GGAGGTC",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_002878.3:c.649_655delinsTGAGGTT",
        "LRG_516t1:c.649_655delinsTGAGGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_002869.3:p.Gly217Ter",
        "hgvsWellDefined": "NP_002869.3:p.Gly218_Thr328delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028165"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245755",
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 575,
          "referenceAllele": "GGAGGTC",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_133629.2:c.313_319delinsTGAGGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_598332.1:p.Gly105Ter",
        "hgvsWellDefined": "NP_598332.1:p.Gly106_Thr216delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040568"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 792,
          "referenceAllele": "GGAGGTC",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037711.1:n.786_792delinsTGAGGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050107"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 657,
          "referenceAllele": "GGAGGTC",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037712.1:n.651_657delinsTGAGGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050108"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 407,
          "referenceAllele": "GGAGGTC",
          "start": 400
        }
      ],
      "hgvs": [
        "NR_037714.1:n.401_407delinsTGAGGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915979391",
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 860,
          "referenceAllele": "GGAGGTC",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_001142571.2:c.709_715delinsTGAGGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136043.1:p.Gly237Ter",
        "hgvsWellDefined": "NP_001136043.1:p.Gly238_Thr348delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245755",
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 464,
          "referenceAllele": "GGAGGTC",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_133629.3:c.313_319delinsTGAGGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_598332.1:p.Gly105Ter",
        "hgvsWellDefined": "NP_598332.1:p.Gly106_Thr216delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699670"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 681,
          "referenceAllele": "GGAGGTC",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037711.2:n.675_681delinsTGAGGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702272"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 546,
          "referenceAllele": "GGAGGTC",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037712.2:n.540_546delinsTGAGGTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA164595",
      "coordinates": [
        {
          "allele": "TGAGGTT",
          "end": 902,
          "referenceAllele": "GGAGGTC",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_002878.4:c.649_655delinsTGAGGTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_002869.3:p.Gly217Ter",
        "hgvsWellDefined": "NP_002869.3:p.Gly218_Thr328delinsGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345365.11:c.649_655delinsTGAGGTT"
          },
          "RefSeq": {
            "hgvs": "NM_002878.4:c.649_655delinsTGAGGTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338790.6:p.Gly217Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002869.3:p.Gly217Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}