{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580093459",
  "communityStandardTitle": [
    "NM_002878.4(RAD51D):c.694_715delinsTGAGAGCTGAAGACCCTGGCCT (p.Arg232Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1812439[alleleid]",
        "alleleId": 1812439,
        "preferredName": "NM_002878.4(RAD51D):c.694_715delinsTGAGAGCTGAAGACCCTGGCCT (p.Arg232_Arg239delinsTer)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1756261",
        "RCV": [
          "RCV002362433"
        ],
        "variationId": 1756261
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2509128875",
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    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AGGCCAGGGTCTTCAGCTCTCA",
          "end": 35103298,
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          "start": 35103276
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        "NC_000017.11:g.35103277_35103298delinsAGGCCAGGGTCTTCAGCTCTCA",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
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      "coordinates": [
        {
          "allele": "AGGCCAGGGTCTTCAGCTCTCA",
          "end": 33430317,
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          "start": 33430295
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        "NC_000017.10:g.33430296_33430317delinsAGGCCAGGGTCTTCAGCTCTCA",
        "CM000679.1:g.33430296_33430317delinsAGGCCAGGGTCTTCAGCTCTCA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "AGGCCAGGGTCTTCAGCTCTCA",
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      "referenceGenome": "NCBI36",
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    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS004992"
    }
  ],
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    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914331"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914334"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914341"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914347"
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    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000345365.11:c.694_715delinsTGAGAGCTGAAGACCCTGGCCT"
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            "hgvs": "NM_002878.4:c.694_715delinsTGAGAGCTGAAGACCCTGGCCT"
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            "hgvs": "NP_002869.3:p.Arg232Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS260206"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS262160"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS276233"
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      "referenceSequence": "http://reg.genome.network/refseq/RS304928"
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS393666"
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    {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393972"
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    {
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        {
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      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_001142571.1:c.754_775delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136043.1:p.Arg252Ter",
        "hgvsWellDefined": "NP_001136043.1:p.Arg252_Thr348delinsGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012976"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287988",
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 971,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_002878.3:c.694_715delinsTGAGAGCTGAAGACCCTGGCCT",
        "LRG_516t1:c.694_715delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_002869.3:p.Arg232Ter",
        "hgvsWellDefined": "NP_002869.3:p.Arg232_Thr328delinsGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028165"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245797",
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 635,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_133629.2:c.358_379delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_598332.1:p.Arg120Ter",
        "hgvsWellDefined": "NP_598332.1:p.Arg120_Thr216delinsGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040568"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 852,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037711.1:n.831_852delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050107"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 717,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037712.1:n.696_717delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050108"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 467,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 445
        }
      ],
      "hgvs": [
        "NR_037714.1:n.446_467delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915979421",
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 920,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_001142571.2:c.754_775delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136043.1:p.Arg252Ter",
        "hgvsWellDefined": "NP_001136043.1:p.Arg252_Thr348delinsGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245797",
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 524,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_133629.3:c.358_379delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_598332.1:p.Arg120Ter",
        "hgvsWellDefined": "NP_598332.1:p.Arg120_Thr216delinsGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699670"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 741,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037711.2:n.720_741delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702272"
    },
    {
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 606,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037712.2:n.585_606delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA287988",
      "coordinates": [
        {
          "allele": "TGAGAGCTGAAGACCCTGGCCT",
          "end": 962,
          "referenceAllele": "CGAGAGCTGAAGACCCTGGCCC",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_002878.4:c.694_715delinsTGAGAGCTGAAGACCCTGGCCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_002869.3:p.Arg232Ter",
        "hgvsWellDefined": "NP_002869.3:p.Arg232_Thr328delinsGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345365.11:c.694_715delinsTGAGAGCTGAAGACCCTGGCCT"
          },
          "RefSeq": {
            "hgvs": "NM_002878.4:c.694_715delinsTGAGAGCTGAAGACCCTGGCCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338790.6:p.Arg232Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002869.3:p.Arg232Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}