{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2499224279",
  "communityStandardTitle": [
    "NM_002878.4(RAD51D):c.256del (p.Ile86LeufsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064143[alleleid]",
        "alleleId": 1064143,
        "preferredName": "NM_002878.4(RAD51D):c.256del (p.Ile86fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075870",
        "RCV": [
          "RCV001389569"
        ],
        "variationId": 1075870
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2142473574",
        "rs": 2142473574
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 35118508,
          "referenceAllele": "T",
          "start": 35118507
        }
      ],
      "hgvs": [
        "NC_000017.11:g.35118508del",
        "CM000679.2:g.35118508del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 33445527,
          "referenceAllele": "T",
          "start": 33445526
        }
      ],
      "hgvs": [
        "NC_000017.10:g.33445527del",
        "CM000679.1:g.33445527del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 30469640,
          "referenceAllele": "T",
          "start": 30469639
        }
      ],
      "hgvs": [
        "NC_000017.9:g.30469640del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6362,
          "referenceAllele": "A",
          "start": 6361
        }
      ],
      "hgvs": [
        "NG_031858.1:g.6362del",
        "LRG_516:g.6362del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004992"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1930,
          "referenceAllele": "T",
          "start": 1929
        }
      ],
      "hgvs": [
        "NG_054719.1:g.1930del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000586186.3:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468273.3:p.Ile86LeufsTer17",
        "hgvsWellDefined": "ENSP00000468273.3:p.[Ile86_Ser88delinsLeuAlaVal;Asp90_Leu92delinsIleAsnCys;Asp94_Gly96delinsMet;Tyr98_Glu101del;Thr103_Glu104delinsSer;Val106_Gly112delinsLeuGlu;Thr114_Gln115del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914331"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000587405.6:c.-95+2783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466478.2:n.-95+2783del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914334"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000590016.6:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466399.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914341"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000590631.2:n.436+603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914343"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 276,
          "referenceAllele": "A",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000592577.6:c.-102del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466839.2:n.-102del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914347"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000345365.11:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338790.6:p.Ile86LeufsTer17",
        "hgvsWellDefined": "ENSP00000338790.6:p.[Ile86_Ser88delinsLeuAlaVal;Asp90_Leu92delinsIleAsnCys;Asp94_Gly96delinsMet;Tyr98_Glu101del;Thr103_Glu104delinsSer;Val106_Gly112delinsLeuGlu;Thr114_Gln115del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345365.11:c.256del"
          },
          "RefSeq": {
            "hgvs": "NM_002878.4:c.256del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338790.6:p.Ile86LeufsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_002869.3:p.Ile86LeufsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000335858.11:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338408.6:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000345365.10:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338790.6:p.Ile86LeufsTer17",
        "hgvsWellDefined": "ENSP00000338790.6:p.[Ile86_Ser88delinsLeuAlaVal;Asp90_Leu92delinsIleAsnCys;Asp94_Gly96delinsMet;Tyr98_Glu101del;Thr103_Glu104delinsSer;Val106_Gly112delinsLeuGlu;Thr114_Gln115del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 395,
          "referenceAllele": "A",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000394589.8:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378090.4:p.Ile86LeufsTer17",
        "hgvsWellDefined": "ENSP00000378090.4:p.[Ile86_Ser88delinsLeuAlaVal;Asp90_Leu92delinsIleAsnCys;Asp94_Gly96delinsMet;Tyr98_Glu101del;Thr103_Glu104delinsSer;Val106_Gly112delinsLeuGlu;Thr114_Gln115del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276233"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 406,
          "referenceAllele": "A",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000415064.6:n.406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS283818"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 275,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 275,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000460118.6:c.-208+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464356.2:n.-208+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304928"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000585343.5:c.159del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388662"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000585947.5:n.159+2783del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389055"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 239,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 239,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000585982.5:n.239+603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389084"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000586044.5:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465584.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000586186.2:c.159del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389226"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000586210.5:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465612.1:p.Ile86LeufsTer?",
        "hgvsWellDefined": "ENSP00000465612.1:p.[Ile86delinsLeuAla;Arg88delinsMetSerLeu;Val90Gly;Val92_Met96delinsLysCysGlyPro;Met99Ala;Ala100_Cys101insLysArgProIle;Ser102_Met107delinsArgPheGlnTrpArgAlaAspSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000587405.5:c.-95+2783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466478.1:n.-95+2783del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 481,
          "referenceAllele": "A",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000587977.5:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466587.1:p.Ile86LeufsTer?",
        "hgvsWellDefined": "ENSP00000466587.1:p.[Ile86_Gly90delinsLeuAlaAspMetGlu;Arg92_Val95delinsAlaLeuLysTrpGluPro;Thr97_Cys101delinsArgThrAlaAlaAla;Cys103_Leu104delinsGlyPro;Ser106_Arg111delinsArgGluIleValGluTrp;Val113_Ser115delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000587982.5:n.191+2783del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000588372.5:c.-95+2783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468764.1:n.-95+2783del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390732"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 250,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 250,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000588594.5:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465366.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390887"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000589506.1:n.355+603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391538"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000590016.5:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466399.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391890"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000590631.1:c.-52+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465033.1:n.-52+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392324"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "hgvs": [
        "ENST00000591723.5:c.-134+2783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467986.1:n.-134+2783del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393076"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "hgvs": [
        "ENST00000592181.1:c.-95+603del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464799.1:n.-95+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393387"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000592430.5:n.232+2783del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393558"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 276,
          "referenceAllele": "A",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000592577.5:c.262del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466839.1:p.Ile88LeufsTer17",
        "hgvsWellDefined": "ENSP00000466839.1:p.[Ile88_Ser90delinsLeuAlaVal;Asp92_Leu94delinsIleAsnCys;Asp96_Gly98delinsMet;Tyr100_Glu103del;Thr105_Glu106delinsSer;Val108_Gly114delinsLeuGlu;Thr116_Gln117del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393666"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000592850.5:c.159del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393850"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "ENST00000592928.2:n.159del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393899"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 203,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 203,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "hgvs": [
        "ENST00000593039.5:c.3+2783del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466834.1:n.3+2783del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393972"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 400,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 400,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_001142571.1:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136043.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012976"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_002878.3:c.256del",
        "LRG_516t1:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002869.3:p.Ile86LeufsTer17",
        "hgvsWellDefined": "NP_002869.3:p.[Ile86_Ser88delinsLeuAlaVal;Asp90_Leu92delinsIleAsnCys;Asp94_Gly96delinsMet;Tyr98_Glu101del;Thr103_Glu104delinsSer;Val106_Gly112delinsLeuGlu;Thr114_Gln115del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028165"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 400,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 400,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_133629.2:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598332.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 400,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 400,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037711.1:n.400+603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050107"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 400,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 400,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037712.1:n.400+603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 2783,
          "referenceAllele": "A",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 2782
        }
      ],
      "hgvs": [
        "NR_037714.1:n.232+2783del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050110"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_001142571.2:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136043.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677571"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_133629.3:c.144+603del"
      ],
      "proteinEffect": {
        "hgvs": "NP_598332.1:n.144+603del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699670"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037711.2:n.289+603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702272"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "A",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NR_037712.2:n.289+603del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702273"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009823",
      "geneNCBI_id": 5892,
      "geneSymbol": "RAD51D",
      "hgvs": [
        "NM_002878.4:c.256del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002869.3:p.Ile86LeufsTer17",
        "hgvsWellDefined": "NP_002869.3:p.[Ile86_Ser88delinsLeuAlaVal;Asp90_Leu92delinsIleAsnCys;Asp94_Gly96delinsMet;Tyr98_Glu101del;Thr103_Glu104delinsSer;Val106_Gly112delinsLeuGlu;Thr114_Gln115del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345365.11:c.256del"
          },
          "RefSeq": {
            "hgvs": "NM_002878.4:c.256del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338790.6:p.Ile86LeufsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_002869.3:p.Ile86LeufsTer17"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}