{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002420",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.3764dup (p.Asn1255LysfsTer12)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46101[alleleid]",
        "alleleId": 46101,
        "preferredName": "NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37545",
        "RCV": [
          "RCV000031126",
          "RCV000048324",
          "RCV000129813",
          "RCV000508668",
          "RCV000735452"
        ],
        "variationId": 37545
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41243784dupT?assembly=hg19",
        "id": "chr17:g.41243784dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41243783_41243784insT?assembly=hg19",
        "id": "chr17:g.41243783_41243784insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43091767dupT?assembly=hg38",
        "id": "chr17:g.43091767dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43091766_43091767insT?assembly=hg38",
        "id": "chr17:g.43091766_43091767insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357848",
        "rs": 80357848
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43091766-G-GT?dataset=gnomad_r3",
        "id": "17-43091766-G-GT",
        "variant": "17:43091766 G / GT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43091766-G-GT?dataset=gnomad_r4",
        "id": "17-43091766-G-GT",
        "variant": "17:43091766 G / GT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 43091768,
          "referenceAllele": "",
          "start": 43091768
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43091768dup",
        "CM000679.2:g.43091768dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 41243785,
          "referenceAllele": "",
          "start": 41243785
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41243785dup",
        "CM000679.1:g.41243785dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 38497311,
          "referenceAllele": "",
          "start": 38497311
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38497311dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126217,
          "referenceAllele": "",
          "start": 126217
        }
      ],
      "hgvs": [
        "NG_005905.2:g.126217dup",
        "LRG_292:g.126217dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3828,
          "referenceAllele": "",
          "start": 3828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.3828dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3883,
          "referenceAllele": "",
          "start": 3883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000417241.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3945,
          "referenceAllele": "",
          "start": 3945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000419274.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3751,
          "referenceAllele": "",
          "start": 3751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.3638dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Asn1213LysfsTer12",
        "hgvsWellDefined": "ENSP00000420201.2:p.[Asn1213_Leu1221del;Asn1223_Val1232delinsHisArgGlyGluPheIleIle;Leu1234_Gln1239delinsGlu;His1241_His1242del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3870,
          "referenceAllele": "",
          "start": 3870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.3761dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Asn1254LysfsTer12",
        "hgvsWellDefined": "ENSP00000417554.2:p.[Asn1254_Leu1262del;Asn1264_Val1273delinsHisArgGlyGluPheIleIle;Leu1275_Gln1280delinsGlu;His1282_His1283del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3799,
          "referenceAllele": "",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.3686dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Asn1229LysfsTer12",
        "hgvsWellDefined": "ENSP00000419988.2:p.[Asn1229_Leu1237del;Asn1239_Val1248delinsHisArgGlyGluPheIleIle;Leu1250_Gln1255delinsGlu;His1257_His1258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3845,
          "referenceAllele": "",
          "start": 3845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.3686dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Asn1229LysfsTer12",
        "hgvsWellDefined": "ENSP00000420781.2:p.[Asn1229_Leu1237del;Asn1239_Val1248delinsHisArgGlyGluPheIleIle;Leu1250_Gln1255delinsGlu;His1257_His1258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3957,
          "referenceAllele": "",
          "start": 3957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000419103.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3124,
          "referenceAllele": "",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.2876dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Asn959LysfsTer12",
        "hgvsWellDefined": "ENSP00000418986.2:p.[Asn959_Leu967del;Asn969_Val978delinsHisArgGlyGluPheIleIle;Leu980_Gln985delinsGlu;His987_His988del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4411,
          "referenceAllele": "",
          "start": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000478114.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3780,
          "referenceAllele": "",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.3641dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Asn1214LysfsTer12",
        "hgvsWellDefined": "ENSP00000489431.2:p.[Asn1214_Leu1222del;Asn1224_Val1233delinsHisArgGlyGluPheIleIle;Leu1235_Gln1240delinsGlu;His1242_His1243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000496570.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4109,
          "referenceAllele": "",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.3623dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Asn1208LysfsTer12",
        "hgvsWellDefined": "ENSP00000498906.2:p.[Asn1208_Leu1216del;Asn1218_Val1227delinsHisArgGlyGluPheIleIle;Leu1229_Gln1234delinsGlu;His1236_His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3764dup"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3764dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Asn1255LysfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Asn1255LysfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3996,
          "referenceAllele": "",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.85dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3828,
          "referenceAllele": "",
          "start": 3828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000326002.7:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3883,
          "referenceAllele": "",
          "start": 3883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3865,
          "referenceAllele": "",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*3547dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*3547dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58,
          "referenceAllele": "",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.1:c.58dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3996,
          "referenceAllele": "",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3855,
          "referenceAllele": "",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.3623dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Asn1208LysfsTer12",
        "hgvsWellDefined": "ENSP00000418775.1:p.[Asn1208_Leu1216del;Asn1218_Val1227delinsHisArgGlyGluPheIleIle;Leu1229_Gln1234delinsGlu;His1236_His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-735dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 27815,
          "referenceAllele": "",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 27815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-27816dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-27816dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17245,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-17246dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-17246dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 33504,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 33504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+33504dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+33504dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3996,
          "referenceAllele": "",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.3764dup",
        "LRG_292t1:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "NP_009225.1:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3904,
          "referenceAllele": "",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.3623dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Asn1208LysfsTer12",
        "hgvsWellDefined": "NP_009228.2:p.[Asn1208_Leu1216del;Asn1218_Val1227delinsHisArgGlyGluPheIleIle;Leu1229_Gln1234delinsGlu;His1236_His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-735dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-735dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3996,
          "referenceAllele": "",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "NP_009231.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3900,
          "referenceAllele": "",
          "start": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.3900dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "NP_009225.1:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3764dup"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3764dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Asn1255LysfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Asn1255LysfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3817,
          "referenceAllele": "",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.3623dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Asn1208LysfsTer12",
        "hgvsWellDefined": "NP_009228.2:p.[Asn1208_Leu1216del;Asn1218_Val1227delinsHisArgGlyGluPheIleIle;Leu1229_Gln1234delinsGlu;His1236_His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 734,
          "referenceAllele": "",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-735dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-735dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3877,
          "referenceAllele": "",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.3764dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Asn1255LysfsTer12",
        "hgvsWellDefined": "NP_009231.2:p.[Asn1255_Leu1263del;Asn1265_Val1274delinsHisArgGlyGluPheIleIle;Leu1276_Gln1281delinsGlu;His1283_His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3941,
          "referenceAllele": "",
          "start": 3941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.3941dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}