{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616883",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.4972del (p.Thr1658ProfsTer19)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404711[alleleid]",
        "alleleId": 404711,
        "preferredName": "NM_007294.4(BRCA1):c.4972del (p.Thr1658fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/417822",
        "RCV": [
          "RCV000477845"
        ],
        "variationId": 417822
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41222959del?assembly=hg19",
        "id": "chr17:g.41222959del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43070942del?assembly=hg38",
        "id": "chr17:g.43070942del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060505044",
        "rs": 1060505044
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43070942,
          "referenceAllele": "T",
          "start": 43070941
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43070942del",
        "CM000679.2:g.43070942del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41222959,
          "referenceAllele": "T",
          "start": 41222958
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41222959del",
        "CM000679.1:g.41222959del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38476485,
          "referenceAllele": "T",
          "start": 38476484
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38476485del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 147042,
          "referenceAllele": "A",
          "start": 147041
        }
      ],
      "hgvs": [
        "NG_005905.2:g.147042del",
        "LRG_292:g.147042del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5088,
          "referenceAllele": "A",
          "start": 5087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.4969del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Thr1657ProfsTer19",
        "hgvsWellDefined": "ENSP00000417241.2:p.[Thr1657del;Glu1659_Met1662delinsGlnLysAsn;Val1664_Ile1673delinsCysSerCys;Leu1675_Asn1677delinsSer;Ile1679_Thr1680delinsPro;Glu1682Asn;His1685_Val1686delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5153,
          "referenceAllele": "A",
          "start": 5152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.4972del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Thr1658ProfsTer19",
        "hgvsWellDefined": "ENSP00000419274.2:p.[Thr1658del;Glu1660_Met1663delinsGlnLysAsn;Val1665_Ile1674delinsCysSerCys;Leu1676_Asn1678delinsSer;Ile1680_Thr1681delinsPro;Glu1683Asn;His1686_Val1687delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4959,
          "referenceAllele": "A",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.4846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Thr1616ProfsTer19",
        "hgvsWellDefined": "ENSP00000420201.2:p.[Thr1616del;Glu1618_Met1621delinsGlnLysAsn;Val1623_Ile1632delinsCysSerCys;Leu1634_Asn1636delinsSer;Ile1638_Thr1639delinsPro;Glu1641Asn;His1644_Val1645delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5075,
          "referenceAllele": "A",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.4966del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Thr1656ProfsTer19",
        "hgvsWellDefined": "ENSP00000417554.2:p.[Thr1656del;Glu1658_Met1661delinsGlnLysAsn;Val1663_Ile1672delinsCysSerCys;Leu1674_Asn1676delinsSer;Ile1678_Thr1679delinsPro;Glu1681Asn;His1684_Val1685delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5007,
          "referenceAllele": "A",
          "start": 5006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.4894del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Thr1632ProfsTer19",
        "hgvsWellDefined": "ENSP00000419988.2:p.[Thr1632del;Glu1634_Met1637delinsGlnLysAsn;Val1639_Ile1648delinsCysSerCys;Leu1650_Asn1652delinsSer;Ile1654_Thr1655delinsPro;Glu1657Asn;His1660_Val1661delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.1660del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Thr554ProfsTer19",
        "hgvsWellDefined": "ENSP00000420412.2:p.[Thr554del;Glu556_Met559delinsGlnLysAsn;Val561_Ile570delinsCysSerCys;Leu572_Asn574delinsSer;Ile576_Thr577delinsPro;Glu579Asn;His582_Val583delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5053,
          "referenceAllele": "A",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.4894del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Thr1632ProfsTer19",
        "hgvsWellDefined": "ENSP00000420781.2:p.[Thr1632del;Glu1634_Met1637delinsGlnLysAsn;Val1639_Ile1648delinsCysSerCys;Leu1650_Asn1652delinsSer;Ile1654_Thr1655delinsPro;Glu1657Asn;His1660_Val1661delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1754,
          "referenceAllele": "A",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.1522del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:p.Thr508ProfsTer19",
        "hgvsWellDefined": "ENSP00000418819.2:p.[Thr508del;Glu510_Met513delinsGlnLysAsn;Val515_Ile524delinsCysSerCys;Leu526_Asn528delinsSer;Ile530_Thr531delinsPro;Glu533Asn;His536_Val537delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5165,
          "referenceAllele": "A",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.4972del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Thr1658ProfsTer19",
        "hgvsWellDefined": "ENSP00000419103.2:p.[Thr1658del;Glu1660_Met1663delinsGlnLysAsn;Val1665_Ile1674delinsCysSerCys;Leu1676_Asn1678delinsSer;Ile1680_Thr1681delinsPro;Glu1683Asn;His1686_Val1687delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4332,
          "referenceAllele": "A",
          "start": 4331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.4084del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Thr1362ProfsTer19",
        "hgvsWellDefined": "ENSP00000418986.2:p.[Thr1362del;Glu1364_Met1367delinsGlnLysAsn;Val1369_Ile1378delinsCysSerCys;Leu1380_Asn1382delinsSer;Ile1384_Thr1385delinsPro;Glu1387Asn;His1390_Val1391delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5619,
          "referenceAllele": "A",
          "start": 5618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.4972del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Thr1658ProfsTer19",
        "hgvsWellDefined": "ENSP00000478114.2:p.[Thr1658del;Glu1660_Met1663delinsGlnLysAsn;Val1665_Ile1674delinsCysSerCys;Leu1676_Asn1678delinsSer;Ile1680_Thr1681delinsPro;Glu1683Asn;His1686_Val1687delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4988,
          "referenceAllele": "A",
          "start": 4987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.4849del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Thr1617ProfsTer19",
        "hgvsWellDefined": "ENSP00000489431.2:p.[Thr1617del;Glu1619_Met1622delinsGlnLysAsn;Val1624_Ile1633delinsCysSerCys;Leu1635_Asn1637delinsSer;Ile1639_Thr1640delinsPro;Glu1642Asn;His1645_Val1646delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5151,
          "referenceAllele": "A",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.5038del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Thr1680ProfsTer19",
        "hgvsWellDefined": "ENSP00000496570.2:p.[Thr1680del;Glu1682_Met1685delinsGlnLysAsn;Val1687_Ile1696delinsCysSerCys;Leu1698_Asn1700delinsSer;Ile1702_Thr1703delinsPro;Glu1705Asn;His1708_Val1709delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1927,
          "referenceAllele": "A",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.1522del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:p.Thr508ProfsTer19",
        "hgvsWellDefined": "ENSP00000494614.2:p.[Thr508del;Glu510_Met513delinsGlnLysAsn;Val515_Ile524delinsCysSerCys;Leu526_Asn528delinsSer;Ile530_Thr531delinsPro;Glu533Asn;His536_Val537delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5317,
          "referenceAllele": "A",
          "start": 5316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.4831del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Thr1611ProfsTer19",
        "hgvsWellDefined": "ENSP00000498906.2:p.[Thr1611del;Glu1613_Met1616delinsGlnLysAsn;Val1618_Ile1627delinsCysSerCys;Leu1629_Asn1631delinsSer;Ile1633_Thr1634delinsPro;Glu1636Asn;His1639_Val1640delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1626,
          "referenceAllele": "A",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.1534del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Thr512ProfsTer19",
        "hgvsWellDefined": "ENSP00000419481.2:p.[Thr512del;Glu514_Met517delinsGlnLysAsn;Val519_Ile528delinsCysSerCys;Leu530_Asn532delinsSer;Ile534_Thr535delinsPro;Glu537Asn;His540_Val541delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1671,
          "referenceAllele": "A",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.1579del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:p.Thr527ProfsTer6",
        "hgvsWellDefined": "ENSP00000514849.1:p.[Thr527del;Glu529_Ser539delinsGlnLysAsn;Met541Ter]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5085,
          "referenceAllele": "A",
          "start": 5084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.4972del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr1658ProfsTer19",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Thr1658del;Glu1660_Met1663delinsGlnLysAsn;Val1665_Ile1674delinsCysSerCys;Leu1676_Asn1678delinsSer;Ile1680_Thr1681delinsPro;Glu1683Asn;His1686_Val1687delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4972del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4972del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr1658ProfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr1658ProfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5267,
          "referenceAllele": "A",
          "start": 5266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.5035del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr1679ProfsTer19",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Thr1679del;Glu1681_Met1684delinsGlnLysAsn;Val1686_Ile1695delinsCysSerCys;Leu1697_Asn1699delinsSer;Ile1701_Thr1702delinsPro;Glu1704Asn;His1707_Val1708delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.1359del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1665,
          "referenceAllele": "A",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.1546del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Thr516ProfsTer19",
        "hgvsWellDefined": "ENSP00000312236.5:p.[Thr516del;Glu518_Met521delinsGlnLysAsn;Val523_Ile532delinsCysSerCys;Leu534_Asn536delinsSer;Ile538_Thr539delinsPro;Glu541Asn;His544_Val545delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5091,
          "referenceAllele": "A",
          "start": 5090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.4972del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr1658ProfsTer19",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Thr1658del;Glu1660_Met1663delinsGlnLysAsn;Val1665_Ile1674delinsCysSerCys;Leu1676_Asn1678delinsSer;Ile1680_Thr1681delinsPro;Glu1683Asn;His1686_Val1687delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5073,
          "referenceAllele": "A",
          "start": 5072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*4755del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*4755del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1854,
          "referenceAllele": "A",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.1660del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Thr554ProfsTer19",
        "hgvsWellDefined": "ENSP00000417148.1:p.[Thr554del;Glu556_Met559delinsGlnLysAsn;Val561_Ile570delinsCysSerCys;Leu572_Asn574delinsSer;Ile576_Thr577delinsPro;Glu579Asn;His582_Val583delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5267,
          "referenceAllele": "A",
          "start": 5266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.5035del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr1679ProfsTer19",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Thr1679del;Glu1681_Met1684delinsGlnLysAsn;Val1686_Ile1695delinsCysSerCys;Leu1697_Asn1699delinsSer;Ile1701_Thr1702delinsPro;Glu1704Asn;His1707_Val1708delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125,
          "referenceAllele": "A",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000472490.1:n.125del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.1660del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Thr554ProfsTer19",
        "hgvsWellDefined": "ENSP00000420412.1:p.[Thr554del;Glu556_Met559delinsGlnLysAsn;Val561_Ile570delinsCysSerCys;Leu572_Asn574delinsSer;Ile576_Thr577delinsPro;Glu579Asn;His582_Val583delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "A",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.1285del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:p.Thr429ProfsTer19",
        "hgvsWellDefined": "ENSP00000419481.1:p.[Thr429del;Glu431_Met434delinsGlnLysAsn;Val436_Ile445delinsCysSerCys;Leu447_Asn449delinsSer;Ile451_Thr452delinsPro;Glu454Asn;His457_Val458delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1759,
          "referenceAllele": "A",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.1660del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Thr554ProfsTer19",
        "hgvsWellDefined": "ENSP00000420705.2:p.[Thr554del;Glu556_Met559delinsGlnLysAsn;Val561_Ile570delinsCysSerCys;Leu572_Asn574delinsSer;Ile576_Thr577delinsPro;Glu579Asn;His582_Val583delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5063,
          "referenceAllele": "A",
          "start": 5062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.4831del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Thr1611ProfsTer19",
        "hgvsWellDefined": "ENSP00000418775.1:p.[Thr1611del;Glu1613_Met1616delinsGlnLysAsn;Val1618_Ile1627delinsCysSerCys;Leu1629_Asn1631delinsSer;Ile1633_Thr1634delinsPro;Glu1636Asn;His1639_Val1640delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1754,
          "referenceAllele": "A",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.1522del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:p.Thr508ProfsTer19",
        "hgvsWellDefined": "ENSP00000418819.1:p.[Thr508del;Glu510_Met513delinsGlnLysAsn;Val515_Ile524delinsCysSerCys;Leu526_Asn528delinsSer;Ile530_Thr531delinsPro;Glu533Asn;His536_Val537delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 6990,
          "referenceAllele": "A",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 6991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-6991del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-6991del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 547,
          "referenceAllele": "A",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.445del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:p.Thr149ProfsTer19",
        "hgvsWellDefined": "ENSP00000467329.1:p.[Thr149del;Glu151_Met154delinsGlnLysAsn;Val156_Ile165delinsCysSerCys;Leu167_Asn169delinsSer;Ile171_Thr172delinsPro;Glu174Asn;His177_Val178delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 20751,
          "referenceAllele": "A",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 20752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-98-20752del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-98-20752del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5204,
          "referenceAllele": "A",
          "start": 5203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.4972del",
        "LRG_292t1:c.4972del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr1658ProfsTer19",
        "hgvsWellDefined": "NP_009225.1:p.[Thr1658del;Glu1660_Met1663delinsGlnLysAsn;Val1665_Ile1674delinsCysSerCys;Leu1676_Asn1678delinsSer;Ile1680_Thr1681delinsPro;Glu1683Asn;His1686_Val1687delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5112,
          "referenceAllele": "A",
          "start": 5111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.4831del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr1611ProfsTer19",
        "hgvsWellDefined": "NP_009228.2:p.[Thr1611del;Glu1613_Met1616delinsGlnLysAsn;Val1618_Ile1627delinsCysSerCys;Leu1629_Asn1631delinsSer;Ile1633_Thr1634delinsPro;Glu1636Asn;His1639_Val1640delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1679,
          "referenceAllele": "A",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.1660del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Thr554ProfsTer19",
        "hgvsWellDefined": "NP_009229.2:p.[Thr554del;Glu556_Met559delinsGlnLysAsn;Val561_Ile570delinsCysSerCys;Leu572_Asn574delinsSer;Ile576_Thr577delinsPro;Glu579Asn;His582_Val583delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1854,
          "referenceAllele": "A",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.1660del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Thr554ProfsTer19",
        "hgvsWellDefined": "NP_009230.2:p.[Thr554del;Glu556_Met559delinsGlnLysAsn;Val561_Ile570delinsCysSerCys;Leu572_Asn574delinsSer;Ile576_Thr577delinsPro;Glu579Asn;His582_Val583delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5267,
          "referenceAllele": "A",
          "start": 5266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.5035del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr1679ProfsTer19",
        "hgvsWellDefined": "NP_009231.2:p.[Thr1679del;Glu1681_Met1684delinsGlnLysAsn;Val1686_Ile1695delinsCysSerCys;Leu1697_Asn1699delinsSer;Ile1701_Thr1702delinsPro;Glu1704Asn;His1707_Val1708delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5108,
          "referenceAllele": "A",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.5108del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5085,
          "referenceAllele": "A",
          "start": 5084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.4972del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr1658ProfsTer19",
        "hgvsWellDefined": "NP_009225.1:p.[Thr1658del;Glu1660_Met1663delinsGlnLysAsn;Val1665_Ile1674delinsCysSerCys;Leu1676_Asn1678delinsSer;Ile1680_Thr1681delinsPro;Glu1683Asn;His1686_Val1687delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.4972del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.4972del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr1658ProfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr1658ProfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5025,
          "referenceAllele": "A",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.4831del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr1611ProfsTer19",
        "hgvsWellDefined": "NP_009228.2:p.[Thr1611del;Glu1613_Met1616delinsGlnLysAsn;Val1618_Ile1627delinsCysSerCys;Leu1629_Asn1631delinsSer;Ile1633_Thr1634delinsPro;Glu1636Asn;His1639_Val1640delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.1660del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Thr554ProfsTer19",
        "hgvsWellDefined": "NP_009230.2:p.[Thr554del;Glu556_Met559delinsGlnLysAsn;Val561_Ile570delinsCysSerCys;Leu572_Asn574delinsSer;Ile576_Thr577delinsPro;Glu579Asn;His582_Val583delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5148,
          "referenceAllele": "A",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.5035del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr1679ProfsTer19",
        "hgvsWellDefined": "NP_009231.2:p.[Thr1679del;Glu1681_Met1684delinsGlnLysAsn;Val1686_Ile1695delinsCysSerCys;Leu1697_Asn1699delinsSer;Ile1701_Thr1702delinsPro;Glu1704Asn;His1707_Val1708delinsSerLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5149,
          "referenceAllele": "A",
          "start": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.5149del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}