{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002410",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254GlufsTer12)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46100[alleleid]",
        "alleleId": 46100,
        "preferredName": "NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37544",
        "RCV": [
          "RCV000031125",
          "RCV000223389",
          "RCV000254638",
          "RCV000587721",
          "RCV002482929"
        ],
        "variationId": 37544
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41243788_41243789del?assembly=hg19",
        "id": "chr17:g.41243788_41243789del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43091771_43091772del?assembly=hg38",
        "id": "chr17:g.43091771_43091772del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357520",
        "rs": 80357520
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43091772,
          "referenceAllele": "TA",
          "start": 43091770
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43091771_43091772del",
        "CM000679.2:g.43091771_43091772del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41243789,
          "referenceAllele": "TA",
          "start": 41243787
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41243788_41243789del",
        "CM000679.1:g.41243788_41243789del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38497315,
          "referenceAllele": "TA",
          "start": 38497313
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38497314_38497315del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 126213,
          "referenceAllele": "TA",
          "start": 126211
        }
      ],
      "hgvs": [
        "NG_005905.2:g.126212_126213del",
        "LRG_292:g.126212_126213del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3824,
          "referenceAllele": "TA",
          "start": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.3823_3824del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3879,
          "referenceAllele": "TA",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000417241.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3941,
          "referenceAllele": "TA",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000419274.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3747,
          "referenceAllele": "TA",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.3633_3634del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Lys1212GlufsTer12",
        "hgvsWellDefined": "ENSP00000420201.2:p.[Lys1212_Glu1215delinsGluHisArgGly;Asn1217_Val1232delinsPheIleIle;Leu1234_Gln1239delinsGlu;His1242del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3866,
          "referenceAllele": "TA",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.3756_3757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Lys1253GlufsTer12",
        "hgvsWellDefined": "ENSP00000417554.2:p.[Lys1253_Glu1256delinsGluHisArgGly;Asn1258_Val1273delinsPheIleIle;Leu1275_Gln1280delinsGlu;His1283del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3795,
          "referenceAllele": "TA",
          "start": 3793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.3681_3682del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Lys1228GlufsTer12",
        "hgvsWellDefined": "ENSP00000419988.2:p.[Lys1228_Glu1231delinsGluHisArgGly;Asn1233_Val1248delinsPheIleIle;Leu1250_Gln1255delinsGlu;His1258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-740_785-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-740_785-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3841,
          "referenceAllele": "TA",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.3681_3682del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Lys1228GlufsTer12",
        "hgvsWellDefined": "ENSP00000420781.2:p.[Lys1228_Glu1231delinsGluHisArgGly;Asn1233_Val1248delinsPheIleIle;Leu1250_Gln1255delinsGlu;His1258del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-740_647-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-740_647-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3953,
          "referenceAllele": "TA",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000419103.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3120,
          "referenceAllele": "TA",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.2871_2872del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Lys958GlufsTer12",
        "hgvsWellDefined": "ENSP00000418986.2:p.[Lys958_Glu961delinsGluHisArgGly;Asn963_Val978delinsPheIleIle;Leu980_Gln985delinsGlu;His988del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4407,
          "referenceAllele": "TA",
          "start": 4405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000478114.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3776,
          "referenceAllele": "TA",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.3636_3637del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Lys1213GlufsTer12",
        "hgvsWellDefined": "ENSP00000489431.2:p.[Lys1213_Glu1216delinsGluHisArgGly;Asn1218_Val1233delinsPheIleIle;Leu1235_Gln1240delinsGlu;His1243del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3873,
          "referenceAllele": "TA",
          "start": 3871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000496570.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-740_647-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-740_647-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4105,
          "referenceAllele": "TA",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.3618_3619del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Lys1207GlufsTer12",
        "hgvsWellDefined": "ENSP00000498906.2:p.[Lys1207_Glu1210delinsGluHisArgGly;Asn1212_Val1227delinsPheIleIle;Leu1229_Gln1234delinsGlu;His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-740_665-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-740_665-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-740_707-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-740_707-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3873,
          "referenceAllele": "TA",
          "start": 3871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3759_3760del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3759_3760del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Lys1254GlufsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Lys1254GlufsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3992,
          "referenceAllele": "TA",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 81,
          "referenceAllele": "TA",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.1:c.80_81del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767790"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-740_671-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-740_671-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3824,
          "referenceAllele": "TA",
          "start": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000326002.7:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3879,
          "referenceAllele": "TA",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3861,
          "referenceAllele": "TA",
          "start": 3859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*3542_*3543del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*3542_*3543del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 54,
          "referenceAllele": "TA",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.1:c.53_54del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247367"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-740_788-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-740_788-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3992,
          "referenceAllele": "TA",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-740_785-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-740_785-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-740_410-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-740_410-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-740_413-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-740_413-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-740_788-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-740_788-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3851,
          "referenceAllele": "TA",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.3618_3619del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Lys1207GlufsTer12",
        "hgvsWellDefined": "ENSP00000418775.1:p.[Lys1207_Glu1210delinsGluHisArgGly;Asn1212_Val1227delinsPheIleIle;Leu1229_Gln1234delinsGlu;His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-740_647-739del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-740_647-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 27819,
          "referenceAllele": "TA",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 27821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-27821_5-27820del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-27821_5-27820del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17249,
          "referenceAllele": "TA",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-17251_-43-17250del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-17251_-43-17250del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 33500,
          "referenceAllele": "TA",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 33498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+33499_-99+33500del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+33499_-99+33500del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3992,
          "referenceAllele": "TA",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.3759_3760del",
        "LRG_292t1:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "NP_009225.1:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3900,
          "referenceAllele": "TA",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.3618_3619del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Lys1207GlufsTer12",
        "hgvsWellDefined": "NP_009228.2:p.[Lys1207_Glu1210delinsGluHisArgGly;Asn1212_Val1227delinsPheIleIle;Leu1229_Gln1234delinsGlu;His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-740_788-739del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-740_788-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-740_788-739del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-740_788-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3992,
          "referenceAllele": "TA",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "NP_009231.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3896,
          "referenceAllele": "TA",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.3895_3896del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3873,
          "referenceAllele": "TA",
          "start": 3871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "NP_009225.1:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3759_3760del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3759_3760del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Lys1254GlufsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Lys1254GlufsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3813,
          "referenceAllele": "TA",
          "start": 3811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.3618_3619del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Lys1207GlufsTer12",
        "hgvsWellDefined": "NP_009228.2:p.[Lys1207_Glu1210delinsGluHisArgGly;Asn1212_Val1227delinsPheIleIle;Leu1229_Gln1234delinsGlu;His1237del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 738,
          "referenceAllele": "TA",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-740_788-739del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-740_788-739del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3873,
          "referenceAllele": "TA",
          "start": 3871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.3759_3760del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Lys1254GlufsTer12",
        "hgvsWellDefined": "NP_009231.2:p.[Lys1254_Glu1257delinsGluHisArgGly;Asn1259_Val1274delinsPheIleIle;Leu1276_Gln1281delinsGlu;His1284del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3937,
          "referenceAllele": "TA",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.3936_3937del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}