{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA000927",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464ProfsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45965[alleleid]",
        "alleleId": 45965,
        "preferredName": "NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37409",
        "RCV": [
          "RCV000030990",
          "RCV000462415",
          "RCV000213424",
          "RCV000487351"
        ],
        "variationId": 37409
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41246158_41246159delinsC?assembly=hg19",
        "id": "chr17:g.41246158_41246159delinsC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43094141_43094142delinsC?assembly=hg38",
        "id": "chr17:g.43094141_43094142delinsC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/273897659",
        "rs": 273897659
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 43094142,
          "referenceAllele": "TT",
          "start": 43094140
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43094141_43094142delinsC",
        "CM000679.2:g.43094141_43094142delinsC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41246159,
          "referenceAllele": "TT",
          "start": 41246157
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41246158_41246159delinsC",
        "CM000679.1:g.41246158_41246159delinsC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 38499685,
          "referenceAllele": "TT",
          "start": 38499683
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38499684_38499685delinsC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123843,
          "referenceAllele": "AA",
          "start": 123841
        }
      ],
      "hgvs": [
        "NG_005905.2:g.123842_123843delinsG",
        "LRG_292:g.123842_123843delinsG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "referenceAllele": "AA",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.1453_1454delinsG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "referenceAllele": "AA",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1571,
          "referenceAllele": "AA",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1377,
          "referenceAllele": "AA",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.1263_1264delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Thr422ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1496,
          "referenceAllele": "AA",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.1386_1387delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Thr463ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1425,
          "referenceAllele": "AA",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.1311_1312delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Thr438ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.784+602_784+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.784+602_784+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1471,
          "referenceAllele": "AA",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.1311_1312delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Thr438ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.646+602_646+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.646+602_646+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1583,
          "referenceAllele": "AA",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "AA",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.501_502delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Thr168ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2037,
          "referenceAllele": "AA",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "AA",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.1266_1267delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Thr423ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "referenceAllele": "AA",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.646+602_646+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.646+602_646+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1735,
          "referenceAllele": "AA",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.1248_1249delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Thr417ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.664+602_664+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.664+602_664+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 798,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.706+602_706+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.706+602_706+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1670,
          "referenceAllele": "AA",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.*1397_*1398delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:n.*1397_*1398delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "referenceAllele": "AA",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1389_1390delinsG"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1389_1390delinsG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr464ProfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr464ProfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1622,
          "referenceAllele": "AA",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1735,
          "referenceAllele": "AA",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.1248_1249delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:p.Thr417ProfsTer11",
        "hgvsWellDefined": "ENSP00000498906.1:p.[Thr417_Tyr418delinsProIleGly;Lys420_Lys421delinsArgGln;Leu424del;Asn426_Val430del;Glu432_Ile446del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1705,
          "referenceAllele": "AA",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.670+1704_670+1705delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.670+1704_670+1705delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "referenceAllele": "AA",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Thr464ProfsTer11",
        "hgvsWellDefined": "ENSP00000326002.7:p.[Thr464_Tyr465delinsProIleGly;Lys467_Lys468delinsArgGln;Leu471del;Asn473_Val477del;Glu479_Ile493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "referenceAllele": "AA",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "referenceAllele": "AA",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000412061.3:c.740_741delinsG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1491,
          "referenceAllele": "AA",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*1172_*1173delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*1172_*1173delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.787+602_787+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.787+602_787+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1551,
          "referenceAllele": "AA",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Thr464ProfsTer11",
        "hgvsWellDefined": "ENSP00000419274.1:p.[Thr464_Tyr465delinsProIleGly;Lys467_Lys468delinsArgGln;Leu471del;Asn473_Val477del;Glu479_Ile493del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1622,
          "referenceAllele": "AA",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1425,
          "referenceAllele": "AA",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.1311_1312delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Thr438ProfsTer11",
        "hgvsWellDefined": "ENSP00000419988.1:p.[Thr438_Tyr439delinsProIleGly;Lys441_Lys442delinsArgGln;Leu445del;Asn447_Val451del;Glu453_Ile467del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.784+602_784+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.784+602_784+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.409+602_409+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.409+602_409+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.412+602_412+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.412+602_412+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 886,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.787+602_787+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.787+602_787+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1555,
          "referenceAllele": "AA",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.*1325_*1326delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:n.*1325_*1326delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1481,
          "referenceAllele": "AA",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.1248_1249delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Thr417ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.646+602_646+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.646+602_646+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1583,
          "referenceAllele": "AA",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Thr464ProfsTer?",
        "hgvsWellDefined": "ENSP00000419103.1:p.[Thr464_Tyr465delinsProIleGly;Lys467_Lys468delinsArgGln;Leu471del;Asn473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "AA",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.501_502delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:p.Thr168ProfsTer?",
        "hgvsWellDefined": "ENSP00000418986.1:p.[Thr168_Tyr169delinsProIleGly;Lys171_Lys172delinsArgGln;Leu175del;Asn177del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 30189,
          "referenceAllele": "AA",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 30191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-30191_5-30190delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-30191_5-30190delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 19619,
          "referenceAllele": "AA",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 19621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-19621_-43-19620delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-19621_-43-19620delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 31130,
          "referenceAllele": "AA",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 31128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+31129_-99+31130delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+31129_-99+31130delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "AA",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.1266_1267delinsG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Thr423ProfsTer11",
        "hgvsWellDefined": "ENSP00000489431.1:p.[Thr423_Tyr424delinsProIleGly;Lys426_Lys427delinsArgGln;Leu430del;Asn432_Val436del;Glu438_Ile452del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1622,
          "referenceAllele": "AA",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.1389_1390delinsG",
        "LRG_292t1:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1530,
          "referenceAllele": "AA",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.1248_1249delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr417ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.787+602_787+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.787+602_787+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.787+602_787+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+602_787+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1622,
          "referenceAllele": "AA",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1526,
          "referenceAllele": "AA",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.1525_1526delinsG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "referenceAllele": "AA",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.1389_1390delinsG"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.1389_1390delinsG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Thr464ProfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Thr464ProfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1443,
          "referenceAllele": "AA",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.1248_1249delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Thr417ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "+",
          "endIntronOffset": 603,
          "referenceAllele": "AA",
          "start": 894,
          "startIntronDirection": "+",
          "startIntronOffset": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.787+602_787+603delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.787+602_787+603delinsG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "referenceAllele": "AA",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.1389_1390delinsG"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Thr464ProfsTer11"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1567,
          "referenceAllele": "AA",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.1566_1567delinsG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}