{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA431391685",
  "communityStandardTitle": [
    "NM_000465.4(BARD1):c.623del (p.Lys208ArgfsTer4)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1405223",
        "active": true,
        "id": "COSM1405223"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1405224",
        "active": true,
        "id": "COSM1405224"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2751770[alleleid]",
        "alleleId": 2751770,
        "preferredName": "NM_000465.4(BARD1):c.623del (p.Lys208fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2584204",
        "RCV": [
          "RCV003335652",
          "RCV003443205",
          "RCV003479516"
        ],
        "variationId": 2584204
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215645975del?assembly=hg19",
        "id": "chr2:g.215645975del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587780033",
        "rs": 587780033
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-214781250-CT-C?dataset=gnomad_r4",
        "id": "2-214781250-CT-C",
        "variant": "2:214781250 CT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 214781257,
          "referenceAllele": "T",
          "start": 214781256
        }
      ],
      "hgvs": [
        "NC_000002.12:g.214781257del",
        "CM000664.2:g.214781257del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 215645981,
          "referenceAllele": "T",
          "start": 215645980
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215645981del",
        "CM000664.1:g.215645981del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 215354226,
          "referenceAllele": "T",
          "start": 215354225
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215354226del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33454,
          "referenceAllele": "A",
          "start": 33453
        }
      ],
      "hgvs": [
        "NG_012047.2:g.33454del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002133"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33461,
          "referenceAllele": "A",
          "start": 33460
        }
      ],
      "hgvs": [
        "NG_012047.3:g.33461del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706107"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000260947.9:c.623del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260947.4:p.Lys208ArgfsTer4",
        "hgvsWellDefined": "ENSP00000260947.4:p.[Lys208Arg;Thr210del;Ala212_Gln237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742071",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260947.9:c.623del"
          },
          "RefSeq": {
            "hgvs": "NM_000465.4:c.623del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260947.4:p.Lys208ArgfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000456.2:p.Lys208ArgfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 243,
          "endIntronDirection": "+",
          "endIntronOffset": 15810,
          "referenceAllele": "A",
          "start": 243,
          "startIntronDirection": "+",
          "startIntronOffset": 15809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000421162.2:c.215+15810del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392245.2:n.215+15810del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 28161,
          "referenceAllele": "A",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 28160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613192.2:c.158+28161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483275.2:n.158+28161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761913"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 28161,
          "referenceAllele": "A",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 28160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613374.5:c.158+28161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484464.1:n.158+28161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761918"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613706.5:c.623del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484976.2:p.Lys208ArgfsTer4",
        "hgvsWellDefined": "ENSP00000484976.2:p.[Lys208Arg;Thr210del;Ala212_Gln237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761932"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000617164.5:c.566del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480470.1:p.Lys189ArgfsTer4",
        "hgvsWellDefined": "ENSP00000480470.1:p.[Lys189Arg;Thr191del;Ala193_Gln218del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762100"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 11046,
          "referenceAllele": "A",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 11045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000619009.5:c.364+11046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482293.1:n.364+11046del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 465,
          "referenceAllele": "A",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000650978.1:c.465del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771403"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 758,
          "referenceAllele": "A",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000260947.8:c.623del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260947.4:p.Lys208ArgfsTer4",
        "hgvsWellDefined": "ENSP00000260947.4:p.[Lys208Arg;Thr210del;Ala212_Gln237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250644"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 15810,
          "referenceAllele": "A",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 15809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000421162.1:c.215+15810del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392245.1:n.215+15810del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286666"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 578,
          "referenceAllele": "A",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000455743.5:c.*243del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412186.1:n.*243del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000471787.1:n.518del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313909"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 28161,
          "referenceAllele": "A",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 28160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613192.1:c.73+28161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483275.1:n.73+28161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 300,
          "endIntronDirection": "+",
          "endIntronOffset": 28161,
          "referenceAllele": "A",
          "start": 300,
          "startIntronDirection": "+",
          "startIntronOffset": 28160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613374.4:c.158+28161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484464.1:n.158+28161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401716"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 15810,
          "referenceAllele": "A",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 15809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000613706.4:c.215+15810del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484976.1:n.215+15810del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401865"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 708,
          "referenceAllele": "A",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000617164.4:c.566del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480470.1:p.Lys189ArgfsTer4",
        "hgvsWellDefined": "ENSP00000480470.1:p.[Lys189Arg;Thr191del;Ala193_Gln218del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403362"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 11046,
          "referenceAllele": "A",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 11045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000619009.4:c.364+11046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482293.1:n.364+11046del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404187"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 11046,
          "referenceAllele": "A",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 11045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "ENST00000620057.4:c.364+11046del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481988.1:n.364+11046del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404652"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_000465.3:c.623del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000456.2:p.Lys208ArgfsTer4",
        "hgvsWellDefined": "NP_000456.2:p.[Lys208Arg;Thr210del;Ala212_Gln237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006526"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 708,
          "referenceAllele": "A",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282543.1:c.566del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269472.1:p.Lys189ArgfsTer4",
        "hgvsWellDefined": "NP_001269472.1:p.[Lys189Arg;Thr191del;Ala193_Gln218del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022030"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 15810,
          "referenceAllele": "A",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 15809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282545.1:c.215+15810del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269474.1:n.215+15810del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 300,
          "endIntronDirection": "+",
          "endIntronOffset": 28161,
          "referenceAllele": "A",
          "start": 300,
          "startIntronDirection": "+",
          "startIntronOffset": 28160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282548.1:c.158+28161del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269477.1:n.158+28161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022035"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 11046,
          "referenceAllele": "A",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 11045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282549.1:c.364+11046del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269478.1:n.364+11046del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022036"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104212.1:n.616del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053302"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 559,
          "referenceAllele": "A",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104215.1:n.559del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 11046,
          "referenceAllele": "A",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 11045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104216.1:n.506+11046del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053306"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 845,
          "referenceAllele": "A",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XM_011511567.1:c.569del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509869.1:p.Lys190ArgfsTer4",
        "hgvsWellDefined": "XP_011509869.1:p.[Lys190Arg;Thr192del;Ala194_Gln219del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XM_011511568.1:c.623del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509870.1:p.Lys208ArgfsTer4",
        "hgvsWellDefined": "XP_011509870.1:p.[Lys208Arg;Thr210del;Ala212_Gln237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XM_017004613.1:c.722del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860102.1:p.Lys241ArgfsTer4",
        "hgvsWellDefined": "XP_016860102.1:p.[Lys241Arg;Thr243del;Ala245_Gln270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560077"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XM_017004614.1:c.722del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860103.1:p.Lys241ArgfsTer4",
        "hgvsWellDefined": "XP_016860103.1:p.[Lys241Arg;Thr243del;Ala245_Gln270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560078"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "XR_002959322.1:n.813del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605255"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_000465.4:c.623del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000456.2:p.Lys208ArgfsTer4",
        "hgvsWellDefined": "NP_000456.2:p.[Lys208Arg;Thr210del;Ala212_Gln237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662452",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260947.9:c.623del"
          },
          "RefSeq": {
            "hgvs": "NM_000465.4:c.623del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260947.4:p.Lys208ArgfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000456.2:p.Lys208ArgfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 680,
          "referenceAllele": "A",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282543.2:c.566del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269472.1:p.Lys189ArgfsTer4",
        "hgvsWellDefined": "NP_001269472.1:p.[Lys189Arg;Thr191del;Ala193_Gln218del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681812"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 15810,
          "referenceAllele": "A",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 15809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282545.2:c.215+15810del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269474.1:n.215+15810del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681814"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 28161,
          "referenceAllele": "A",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 28160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282548.2:c.158+28161del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269477.1:n.158+28161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681817"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 11046,
          "referenceAllele": "A",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 11045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NM_001282549.2:c.364+11046del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269478.1:n.364+11046del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681818"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104212.2:n.588del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 531,
          "referenceAllele": "A",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104215.2:n.531del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702955"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 11046,
          "referenceAllele": "A",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 11045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NR_104216.2:n.478+11046del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702956"
    }
  ],
  "type": "nucleotide"
}