{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA002091",
  "communityStandardTitle": [
    "NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077AlafsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46072[alleleid]",
        "alleleId": 46072,
        "preferredName": "NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37516",
        "RCV": [
          "RCV000031097",
          "RCV000048107",
          "RCV000162862",
          "RCV000225762",
          "RCV000473763",
          "RCV001798030"
        ],
        "variationId": 37516
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.41244319_41244320del?assembly=hg19",
        "id": "chr17:g.41244319_41244320del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.43092302_43092303del?assembly=hg38",
        "id": "chr17:g.43092302_43092303del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80357635",
        "rs": 80357635
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-41244318-CCT-C?dataset=gnomad_r2_1",
        "id": "17-41244318-CCT-C",
        "variant": "17:41244318 CCT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-43092301-CCT-C?dataset=gnomad_r4",
        "id": "17-43092301-CCT-C",
        "variant": "17:43092301 CCT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 43092305,
          "referenceAllele": "CT",
          "start": 43092303
        }
      ],
      "hgvs": [
        "NC_000017.11:g.43092304_43092305del",
        "CM000679.2:g.43092304_43092305del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 41244322,
          "referenceAllele": "CT",
          "start": 41244320
        }
      ],
      "hgvs": [
        "NC_000017.10:g.41244321_41244322del",
        "CM000679.1:g.41244321_41244322del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 38497848,
          "referenceAllele": "CT",
          "start": 38497846
        }
      ],
      "hgvs": [
        "NC_000017.9:g.38497847_38497848del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 125682,
          "referenceAllele": "AG",
          "start": 125680
        }
      ],
      "hgvs": [
        "NG_005905.2:g.125681_125682del",
        "LRG_292:g.125681_125682del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000438"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3293,
          "referenceAllele": "AG",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.8:n.3292_3293del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913973"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3348,
          "referenceAllele": "AG",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461574.2:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417241.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000417241.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914104"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3410,
          "referenceAllele": "AG",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000470026.6:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419274.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000419274.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914115"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3216,
          "referenceAllele": "AG",
          "start": 3214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000473961.6:c.3102_3103del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420201.2:p.Gly1035AlafsTer8",
        "hgvsWellDefined": "ENSP00000420201.2:p.[Gly1035_Pro1036delinsAla;Leu1038_Pro1049delinsIle;Val1051Cys;Lys1053_Pro1064delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914123"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3335,
          "referenceAllele": "AG",
          "start": 3333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000476777.6:c.3225_3226del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417554.2:p.Gly1076AlafsTer8",
        "hgvsWellDefined": "ENSP00000417554.2:p.[Gly1076_Pro1077delinsAla;Leu1079_Pro1090delinsIle;Val1092Cys;Lys1094_Pro1105delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914128"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3264,
          "referenceAllele": "AG",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000477152.6:c.3150_3151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419988.2:p.Gly1051AlafsTer8",
        "hgvsWellDefined": "ENSP00000419988.2:p.[Gly1051_Pro1052delinsAla;Leu1054_Pro1065delinsIle;Val1067Cys;Lys1069_Pro1080delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914130"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.6:c.785-1271_785-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.2:n.785-1271_785-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3310,
          "referenceAllele": "AG",
          "start": 3308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000489037.2:c.3150_3151del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420781.2:p.Gly1051AlafsTer8",
        "hgvsWellDefined": "ENSP00000420781.2:p.[Gly1051_Pro1052delinsAla;Leu1054_Pro1065delinsIle;Val1067Cys;Lys1069_Pro1080delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914157"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.6:c.647-1271_647-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.2:n.647-1271_647-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3422,
          "referenceAllele": "AG",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000494123.6:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419103.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000419103.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2589,
          "referenceAllele": "AG",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000497488.2:c.2340_2341del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418986.2:p.Gly781AlafsTer8",
        "hgvsWellDefined": "ENSP00000418986.2:p.[Gly781_Pro782delinsAla;Leu784_Pro795delinsIle;Val797Cys;Lys799_Pro810delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3876,
          "referenceAllele": "AG",
          "start": 3874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000618469.2:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478114.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000478114.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3245,
          "referenceAllele": "AG",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000634433.2:c.3105_3106del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489431.2:p.Gly1036AlafsTer8",
        "hgvsWellDefined": "ENSP00000489431.2:p.[Gly1036_Pro1037delinsAla;Leu1039_Pro1050delinsIle;Val1052Cys;Lys1054_Pro1065delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914383"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3342,
          "referenceAllele": "AG",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644379.2:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496570.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000496570.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000644555.2:c.647-1271_647-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494614.2:n.647-1271_647-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3574,
          "referenceAllele": "AG",
          "start": 3572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000652672.2:c.3087_3088del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498906.2:p.Gly1030AlafsTer8",
        "hgvsWellDefined": "ENSP00000498906.2:p.[Gly1030_Pro1031delinsAla;Leu1033_Pro1044delinsIle;Val1046Cys;Lys1048_Pro1059delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914437"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.6:c.665-1271_665-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.2:n.665-1271_665-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905314"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 798,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 798,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000700182.1:c.707-1271_707-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514849.1:n.707-1271_707-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3342,
          "referenceAllele": "AG",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.9:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3228_3229del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3228_3229del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Gly1077AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Gly1077AlafsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3461,
          "referenceAllele": "AG",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.7:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000352993.7:c.671-1271_671-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312236.5:n.671-1271_671-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247155"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3293,
          "referenceAllele": "AG",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000354071.7:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326002.7:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000326002.7:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247245"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3348,
          "referenceAllele": "AG",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000357654.7:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350283.3:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000350283.3:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3330,
          "referenceAllele": "AG",
          "start": 3328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000461221.5:c.*3011_*3012del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418548.1:n.*3011_*3012del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305785"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000468300.5:c.788-1271_788-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417148.1:n.788-1271_788-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247345"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3461,
          "referenceAllele": "AG",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000471181.6:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418960.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "ENSP00000418960.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000478531.5:c.785-1271_785-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420412.1:n.785-1271_785-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247368"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000484087.5:c.410-1271_410-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419481.1:n.410-1271_410-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000487825.5:c.413-1271_413-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418212.1:n.413-1271_413-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247188"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000491747.6:c.788-1271_788-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420705.2:n.788-1271_788-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3320,
          "referenceAllele": "AG",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493795.5:c.3087_3088del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418775.1:p.Gly1030AlafsTer8",
        "hgvsWellDefined": "ENSP00000418775.1:p.[Gly1030_Pro1031delinsAla;Leu1033_Pro1044delinsIle;Val1046Cys;Lys1048_Pro1059delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000493919.5:c.647-1271_647-1270del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418819.1:n.647-1271_647-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247288"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 28350,
          "referenceAllele": "AG",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 28352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000586385.5:c.5-28352_5-28351del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465818.1:n.5-28352_5-28351del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247162"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 17780,
          "referenceAllele": "AG",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 17782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591534.5:c.-43-17782_-43-17781del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467329.1:n.-43-17782_-43-17781del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 32969,
          "referenceAllele": "AG",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 32967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "ENST00000591849.5:c.-99+32968_-99+32969del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465347.1:n.-99+32968_-99+32969del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3461,
          "referenceAllele": "AG",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.3:c.3228_3229del",
        "LRG_292t1:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "NP_009225.1:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3369,
          "referenceAllele": "AG",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.3:c.3087_3088del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Gly1030AlafsTer8",
        "hgvsWellDefined": "NP_009228.2:p.[Gly1030_Pro1031delinsAla;Leu1033_Pro1044delinsIle;Val1046Cys;Lys1048_Pro1059delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007298.3:c.788-1271_788-1270del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009229.2:n.788-1271_788-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032214"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 981,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 981,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.3:c.788-1271_788-1270del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-1271_788-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3461,
          "referenceAllele": "AG",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.3:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "NP_009231.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032216"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3365,
          "referenceAllele": "AG",
          "start": 3363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.1:n.3364_3365del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3342,
          "referenceAllele": "AG",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007294.4:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009225.1:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "NP_009225.1:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696962",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357654.9:c.3228_3229del"
          },
          "RefSeq": {
            "hgvs": "NM_007294.4:c.3228_3229del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350283.3:p.Gly1077AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_009225.1:p.Gly1077AlafsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3282,
          "referenceAllele": "AG",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007297.4:c.3087_3088del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009228.2:p.Gly1030AlafsTer8",
        "hgvsWellDefined": "NP_009228.2:p.[Gly1030_Pro1031delinsAla;Leu1033_Pro1044delinsIle;Val1046Cys;Lys1048_Pro1059delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696963"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 1269,
          "referenceAllele": "AG",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007299.4:c.788-1271_788-1270del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009230.2:n.788-1271_788-1270del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696964"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3342,
          "referenceAllele": "AG",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NM_007300.4:c.3228_3229del"
      ],
      "proteinEffect": {
        "hgvs": "NP_009231.2:p.Gly1077AlafsTer8",
        "hgvsWellDefined": "NP_009231.2:p.[Gly1077_Pro1078delinsAla;Leu1080_Pro1091delinsIle;Val1093Cys;Lys1095_Pro1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3406,
          "referenceAllele": "AG",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NR_027676.2:n.3405_3406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701973"
    }
  ],
  "type": "nucleotide"
}