{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA331818",
  "communityStandardTitle": [
    "NM_000465.4(BARD1):c.1935_1954dup (p.Glu652ValfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133182[alleleid]",
        "alleleId": 133182,
        "preferredName": "NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127725",
        "RCV": [
          "RCV000115621",
          "RCV000200198",
          "RCV000486214",
          "RCV000587422",
          "RCV001535495"
        ],
        "variationId": 127725
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-215595181-T-TCATACTTTTCTTCCTGTTCA",
        "id": "2-215595181-T-TCATACTTTTCTTCCTGTTCA",
        "variant": "2:215595181 T / TCATACTTTTCTTCCTGTTCA"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215595182_215595201dup20?assembly=hg19",
        "id": "chr2:g.215595182_215595201dup20"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215595181_215595182insCATACTTTTCTTCCTGTTCA?assembly=hg19",
        "id": "chr2:g.215595181_215595182insCATACTTTTCTTCCTGTTCA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.214730458_214730477dup20?assembly=hg38",
        "id": "chr2:g.214730458_214730477dup20"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.214730457_214730458insCATACTTTTCTTCCTGTTCA?assembly=hg38",
        "id": "chr2:g.214730457_214730458insCATACTTTTCTTCCTGTTCA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587780024",
        "rs": 587780024
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-215595181-T-TCATACTTTTCTTCCTGTTCA?dataset=gnomad_r2_1",
        "id": "2-215595181-T-TCATACTTTTCTTCCTGTTCA",
        "variant": "2:215595181 T / TCATACTTTTCTTCCTGTTCA"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-214730457-T-TCATACTTTTCTTCCTGTTCA?dataset=gnomad_r3",
        "id": "2-214730457-T-TCATACTTTTCTTCCTGTTCA",
        "variant": "2:214730457 T / TCATACTTTTCTTCCTGTTCA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-214730457-T-TCATACTTTTCTTCCTGTTCA?dataset=gnomad_r4",
        "id": "2-214730457-T-TCATACTTTTCTTCCTGTTCA",
        "variant": "2:214730457 T / TCATACTTTTCTTCCTGTTCA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CTGTTCACATACTTTTCTTC",
          "end": 214730490,
          "referenceAllele": "",
          "start": 214730490
        }
      ],
      "hgvs": [
        "NC_000002.12:g.214730471_214730490dup",
        "CM000664.2:g.214730471_214730490dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CTGTTCACATACTTTTCTTC",
          "end": 215595214,
          "referenceAllele": "",
          "start": 215595214
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215595195_215595214dup",
        "CM000664.1:g.215595195_215595214dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "CTGTTCACATACTTTTCTTC",
          "end": 215303459,
          "referenceAllele": "",
          "start": 215303459
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215303440_215303459dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 84247,
          "referenceAllele": "",
          "start": 84247
        }
      ],
      "hgvs": [
        "NG_012047.2:g.84228_84247dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002133"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 84254,
          "referenceAllele": "",
          "start": 84254
        }
      ],
      "hgvs": [
        "NG_012047.3:g.84235_84254dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706107"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2068,
          "referenceAllele": "",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000260947.9:c.1935_1954dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260947.4:p.Glu652ValfsTer?",
        "hgvsWellDefined": "ENSP00000260947.4:p.[Glu652_Gly674delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr676_Tyr678delinsGlnSerCys;Trp680delinsMetAspAlaThrSerIleCys;Gly681_Thr682insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742071",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260947.9:c.1935_1954dup"
          },
          "RefSeq": {
            "hgvs": "NM_000465.4:c.1935_1954dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260947.4:p.Glu652ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000456.2:p.Glu652ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 629,
          "referenceAllele": "",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000421162.2:c.582_601dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392245.2:p.Glu201ValfsTer?",
        "hgvsWellDefined": "ENSP00000392245.2:p.[Glu201_Gly223delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr225_Tyr227delinsGlnSerCys;Trp229delinsMetAspAlaThrSerIleCys;Gly230_Thr231insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754871"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 323,
          "referenceAllele": "",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613192.2:c.190_*17dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483275.2:n.190_*17dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761913"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 617,
          "referenceAllele": "",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613374.5:c.525_544dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484464.1:p.Glu182ValfsTer?",
        "hgvsWellDefined": "ENSP00000484464.1:p.[Glu182_Gly204delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr206_Tyr208delinsGlnSerCys;Trp210delinsMetAspAlaThrSerIleCys;Gly211_Thr212insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761918"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1660,
          "referenceAllele": "",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613706.5:c.1527_1546dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484976.2:p.Glu516ValfsTer?",
        "hgvsWellDefined": "ENSP00000484976.2:p.[Glu516_Gly538delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr540_Tyr542delinsGlnSerCys;Trp544delinsMetAspAlaThrSerIleCys;Gly545_Thr546insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761932"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1970,
          "referenceAllele": "",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000617164.5:c.1878_1897dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480470.1:p.Glu633ValfsTer?",
        "hgvsWellDefined": "ENSP00000480470.1:p.[Glu633_Gly655delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr657_Tyr659delinsGlnSerCys;Trp661delinsMetAspAlaThrSerIleCys;Gly662_Thr663insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762100"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 443,
          "referenceAllele": "",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000619009.5:c.396_415dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482293.1:p.Glu139ValfsTer?",
        "hgvsWellDefined": "ENSP00000482293.1:p.[Glu139_Gly161delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr163_Tyr165delinsGlnSerCys;Trp167delinsMetAspAlaThrSerIleCys;Gly168_Thr169insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762210"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 3329,
          "referenceAllele": "",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000650978.1:c.3310_3329dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771403"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2089,
          "referenceAllele": "",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000260947.8:c.1935_1954dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260947.4:p.Glu652ValfsTer?",
        "hgvsWellDefined": "ENSP00000260947.4:p.[Glu652_Gly674delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr676_Tyr678delinsGlnSerCys;Trp680delinsMetAspAlaThrSerIleCys;Gly681_Thr682insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250644"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 719,
          "referenceAllele": "",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000421162.1:c.582_601dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392245.1:p.Glu201ValfsTer?",
        "hgvsWellDefined": "ENSP00000392245.1:p.[Glu201_Arg213delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAla;Gln215_Leu216delinsAlaGlySerThrGluAsnSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286666"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 51,
          "referenceAllele": "",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000432456.5:c.32_51dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292094"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1909,
          "referenceAllele": "",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000455743.5:c.*1555_*1574dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412186.1:n.*1555_*1574dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303186"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 289,
          "referenceAllele": "",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000471590.5:n.270_289dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313754"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 323,
          "referenceAllele": "",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613192.1:c.105_124dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483275.1:p.Glu42ValfsTer?",
        "hgvsWellDefined": "ENSP00000483275.1:p.[Glu42_Gly64delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr66_Tyr68delinsGlnSerCys;Trp70delinsMetAspAlaThrSerIleCys;Gly71_Thr72insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401636"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 686,
          "referenceAllele": "",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613374.4:c.525_544dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484464.1:p.Glu182ValfsTer?",
        "hgvsWellDefined": "ENSP00000484464.1:p.[Glu182_Gly204delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr206_Tyr208delinsGlnSerCys;Trp210delinsMetAspAlaThrSerIleCys;Gly211_Thr212insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401716"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613706.4:c.582_601dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484976.1:p.Glu201ValfsTer?",
        "hgvsWellDefined": "ENSP00000484976.1:p.[Glu201_Gly223delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr225_Tyr227delinsGlnSerCys;Trp229delinsMetAspAlaThrSerIleCys;Gly230_Thr231insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401865"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2039,
          "referenceAllele": "",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000617164.4:c.1878_1897dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480470.1:p.Glu633ValfsTer?",
        "hgvsWellDefined": "ENSP00000480470.1:p.[Glu633_Gly655delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr657_Tyr659delinsGlnSerCys;Trp661delinsMetAspAlaThrSerIleCys;Gly662_Thr663insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403362"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 557,
          "referenceAllele": "",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000619009.4:c.396_415dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482293.1:p.Glu139ValfsTer?",
        "hgvsWellDefined": "ENSP00000482293.1:p.[Glu139_Gly161delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr163_Tyr165delinsGlnSerCys;Trp167delinsMetAspAlaThrSerIleCys;Gly168_Thr169insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404187"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1077,
          "referenceAllele": "",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000620057.4:c.*601_*620dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481988.1:n.*601_*620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404652"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2096,
          "referenceAllele": "",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_000465.3:c.1935_1954dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000456.2:p.Glu652ValfsTer?",
        "hgvsWellDefined": "NP_000456.2:p.[Glu652_Gly674delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr676_Tyr678delinsGlnSerCys;Trp680delinsMetAspAlaThrSerIleCys;Gly681_Thr682insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006526"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2039,
          "referenceAllele": "",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282543.1:c.1878_1897dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269472.1:p.Glu633ValfsTer?",
        "hgvsWellDefined": "NP_001269472.1:p.[Glu633_Gly655delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr657_Tyr659delinsGlnSerCys;Trp661delinsMetAspAlaThrSerIleCys;Gly662_Thr663insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022030"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282545.1:c.582_601dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269474.1:p.Glu201ValfsTer?",
        "hgvsWellDefined": "NP_001269474.1:p.[Glu201_Gly223delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr225_Tyr227delinsGlnSerCys;Trp229delinsMetAspAlaThrSerIleCys;Gly230_Thr231insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022032"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 686,
          "referenceAllele": "",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282548.1:c.525_544dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269477.1:p.Glu182ValfsTer?",
        "hgvsWellDefined": "NP_001269477.1:p.[Glu182_Gly204delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr206_Tyr208delinsGlnSerCys;Trp210delinsMetAspAlaThrSerIleCys;Gly211_Thr212insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022035"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 557,
          "referenceAllele": "",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282549.1:c.396_415dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269478.1:p.Glu139ValfsTer?",
        "hgvsWellDefined": "NP_001269478.1:p.[Glu139_Gly161delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr163_Tyr165delinsGlnSerCys;Trp167delinsMetAspAlaThrSerIleCys;Gly168_Thr169insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022036"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1947,
          "referenceAllele": "",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104212.1:n.1928_1947dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053302"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1890,
          "referenceAllele": "",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104215.1:n.1871_1890dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053305"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1146,
          "referenceAllele": "",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104216.1:n.1127_1146dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053306"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2176,
          "referenceAllele": "",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XM_011511567.1:c.1881_1900dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509869.1:p.Glu634ValfsTer?",
        "hgvsWellDefined": "XP_011509869.1:p.[Glu634_Gly656delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr658_Tyr660delinsGlnSerCys;Trp662delinsMetAspAlaThrSerIleCys;Gly663_Thr664insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078828"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2144,
          "referenceAllele": "",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XM_017004613.1:c.2034_2053dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860102.1:p.Glu685ValfsTer?",
        "hgvsWellDefined": "XP_016860102.1:p.[Glu685_Gly707delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr709_Tyr711delinsGlnSerCys;Trp713delinsMetAspAlaThrSerIleCys;Gly714_Thr715insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560077"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2144,
          "referenceAllele": "",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XR_002959322.1:n.2125_2144dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605255"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2068,
          "referenceAllele": "",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_000465.4:c.1935_1954dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000456.2:p.Glu652ValfsTer?",
        "hgvsWellDefined": "NP_000456.2:p.[Glu652_Gly674delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr676_Tyr678delinsGlnSerCys;Trp680delinsMetAspAlaThrSerIleCys;Gly681_Thr682insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662452",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260947.9:c.1935_1954dup"
          },
          "RefSeq": {
            "hgvs": "NM_000465.4:c.1935_1954dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260947.4:p.Glu652ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000456.2:p.Glu652ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 2011,
          "referenceAllele": "",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282543.2:c.1878_1897dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269472.1:p.Glu633ValfsTer?",
        "hgvsWellDefined": "NP_001269472.1:p.[Glu633_Gly655delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr657_Tyr659delinsGlnSerCys;Trp661delinsMetAspAlaThrSerIleCys;Gly662_Thr663insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681812"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 715,
          "referenceAllele": "",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282545.2:c.582_601dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269474.1:p.Glu201ValfsTer?",
        "hgvsWellDefined": "NP_001269474.1:p.[Glu201_Gly223delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr225_Tyr227delinsGlnSerCys;Trp229delinsMetAspAlaThrSerIleCys;Gly230_Thr231insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681814"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 658,
          "referenceAllele": "",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282548.2:c.525_544dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269477.1:p.Glu182ValfsTer?",
        "hgvsWellDefined": "NP_001269477.1:p.[Glu182_Gly204delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr206_Tyr208delinsGlnSerCys;Trp210delinsMetAspAlaThrSerIleCys;Gly211_Thr212insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681817"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 529,
          "referenceAllele": "",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282549.2:c.396_415dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269478.1:p.Glu139ValfsTer?",
        "hgvsWellDefined": "NP_001269478.1:p.[Glu139_Gly161delinsValAsnArgLysLysSerMetLysPheLeuLysValHisAlaGluAlaGlySerThrGluAsnSerCys;Tyr163_Tyr165delinsGlnSerCys;Trp167delinsMetAspAlaThrSerIleCys;Gly168_Thr169insGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681818"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1919,
          "referenceAllele": "",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104212.2:n.1900_1919dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702953"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1862,
          "referenceAllele": "",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104215.2:n.1843_1862dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702955"
    },
    {
      "coordinates": [
        {
          "allele": "AAGTATGTGAACAGGAAGAA",
          "end": 1118,
          "referenceAllele": "",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104216.2:n.1099_1118dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702956"
    }
  ],
  "type": "nucleotide"
}