{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA328036",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.62dup (p.Glu23ArgfsTer18)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70318[alleleid]",
        "alleleId": 70318,
        "preferredName": "NM_007294.4(BRCA1):c.62dup (p.Glu23fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55651",
        "RCV": [
          "RCV000577420",
          "RCV000660980"
        ],
        "variationId": 55651
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41276052dupA?assembly=hg19",
        "id": "chr17:g.41276052dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41276051_41276052insA?assembly=hg19",
        "id": "chr17:g.41276051_41276052insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43124035dupA?assembly=hg38",
        "id": "chr17:g.43124035dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43124034_43124035insA?assembly=hg38",
        "id": "chr17:g.43124034_43124035insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397509303",
        "rs": 397509303
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43124035,
          "referenceAllele": "",
          "start": 43124035
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43124035dup",
        "CM000679.2:g.43124035dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 41276052,
          "referenceAllele": "",
          "start": 41276052
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41276052dup",
        "CM000679.1:g.41276052dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38529578,
          "referenceAllele": "",
          "start": 38529578
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38529578dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93949,
          "referenceAllele": "",
          "start": 93949
        }
      ],
      "hgvs": [
        "NG_005905.2:g.93949dup",
        "LRG_292:g.93949dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "referenceAllele": "",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.126dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000420412.2:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.-26dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.-26dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30,
          "endIntronDirection": "+",
          "endIntronOffset": 1236,
          "referenceAllele": "",
          "start": 30,
          "startIntronDirection": "+",
          "startIntronOffset": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.-219+1236dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:n.-219+1236dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.-225dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.-225dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.-199dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:n.-199dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000419481.2:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000514849.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Ser46_Ser50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700183.1:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514850.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000514850.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Leu47_Cys50del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700184.1:n.305dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700185.1:n.181dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700186.1:n.181dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.62dup"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.62dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu23ArgfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu23ArgfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000642945.1:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495897.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000495897.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Gln46_Leu50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.1:c.-225dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.1:n.-225dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.1:c.-199dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.1:n.-199dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000312236.5:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "referenceAllele": "",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "referenceAllele": "",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000418548.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461798.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417988.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000417988.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000417148.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000419274.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000417554.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000419988.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Ser46_Ser50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000420412.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.1:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000420781.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Ser46_Ser50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161,
          "referenceAllele": "",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000420705.2:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000492859.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420253.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000420253.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Leu47_Cys50del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.-26dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:n.-26dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.-26dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.-26dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.5:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000419103.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30,
          "endIntronDirection": "+",
          "endIntronOffset": 1236,
          "referenceAllele": "",
          "start": 30,
          "startIntronDirection": "+",
          "startIntronOffset": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.1:c.-219+1236dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.1:n.-219+1236dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 1147,
          "referenceAllele": "",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.4+1147dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.4+1147dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 1236,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-44+1236dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-44+1236dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 1236,
          "referenceAllele": "",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+1236dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+1236dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.1:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.1:p.Glu23ArgfsTer?",
        "hgvsWellDefined": "ENSP00000478114.1:p.Glu23delinsArgVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.1:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.1:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "ENSP00000489431.1:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.62dup",
        "LRG_292t1:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.-26dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.-26dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "NP_009229.2:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "NP_009230.2:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.223dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.62dup"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.62dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Glu23ArgfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Glu23ArgfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.-26dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:n.-26dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:p.Glu23ArgfsTer18",
        "hgvsWellDefined": "NP_009230.2:p.[Glu23_Cys27delinsArgValSerHis;Glu29_Ser36delinsSerGlyValAspGlnGly;Lys38del;Asp40Leu;Ile42_Cys44del;Phe46_Lys50delinsVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.62dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Glu23ArgfsTer18"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.264dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}