{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3261215909",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.9302_9303delinsCA (p.Leu3101Pro)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "CA",
          "end": 32394735,
          "referenceAllele": "TG",
          "start": 32394733
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32394734_32394735delinsCA",
        "CM000675.2:g.32394734_32394735delinsCA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "CA",
          "end": 32968872,
          "referenceAllele": "TG",
          "start": 32968870
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32968871_32968872delinsCA",
        "CM000675.1:g.32968871_32968872delinsCA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "CA",
          "end": 31866872,
          "referenceAllele": "TG",
          "start": 31866870
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31866871_31866872delinsCA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 84256,
          "referenceAllele": "TG",
          "start": 84254
        }
      ],
      "hgvs": [
        "NG_012772.3:g.84255_84256delinsCA",
        "LRG_293:g.84255_84256delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9502,
          "referenceAllele": "TG",
          "start": 9500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:p.Leu3101Pro",
        "hgvsWellDefined": "ENSP00000434898.2:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9566,
          "referenceAllele": "TG",
          "start": 9564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.*669_*670delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:n.*669_*670delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9501,
          "referenceAllele": "TG",
          "start": 9499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.8933_8934delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Leu2978Pro",
        "hgvsWellDefined": "ENSP00000499438.2:p.Leu2978Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9815,
          "referenceAllele": "TG",
          "start": 9813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.*864_*865delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:n.*864_*865delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9641,
          "referenceAllele": "TG",
          "start": 9639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.2:c.*147_*148delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.2:n.*147_*148delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9451,
          "referenceAllele": "TG",
          "start": 9449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.9251_9252delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Leu3084Pro",
        "hgvsWellDefined": "ENSP00000514856.2:p.Leu3084Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 1719,
          "referenceAllele": "TG",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.1718_1719delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Leu573Pro",
        "hgvsWellDefined": "ENSP00000514856.1:p.Leu573Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 1430,
          "referenceAllele": "TG",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700203.1:n.1429_1430delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911048"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9502,
          "referenceAllele": "TG",
          "start": 9500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Leu3101Pro",
        "hgvsWellDefined": "ENSP00000369497.3:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.9302_9303delinsCA"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.9302_9303delinsCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Leu3101Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Leu3101Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9402,
          "referenceAllele": "TG",
          "start": 9400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Leu3101Pro",
        "hgvsWellDefined": "ENSP00000439902.1:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9311,
          "referenceAllele": "TG",
          "start": 9309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.9310_9311delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:n.9310_9311delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 2181,
          "referenceAllele": "TG",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.1:c.2180_2181delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772907"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 325,
          "referenceAllele": "TG",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.1:c.324_325delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.1:n.324_325delinsCA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772947"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9428,
          "referenceAllele": "TG",
          "start": 9426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Leu3101Pro",
        "hgvsWellDefined": "ENSP00000505508.1:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9536,
          "referenceAllele": "TG",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Leu3101Pro",
        "hgvsWellDefined": "ENSP00000369497.3:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 260,
          "referenceAllele": "TG",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.1:c.259_260delinsCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312617"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9530,
          "referenceAllele": "TG",
          "start": 9528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Leu3101Pro",
        "hgvsWellDefined": "ENSP00000439902.1:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA337756",
      "coordinates": [
        {
          "allele": "CA",
          "end": 9530,
          "referenceAllele": "TG",
          "start": 9528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.9302_9303delinsCA",
        "LRG_293t1:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Leu3101Pro",
        "hgvsWellDefined": "NP_000050.2:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9626,
          "referenceAllele": "TG",
          "start": 9624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Leu3101Pro",
        "hgvsWellDefined": "XP_011533505.1:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "CA",
          "end": 9440,
          "referenceAllele": "TG",
          "start": 9438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.9206_9207delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Leu3069Pro",
        "hgvsWellDefined": "XP_011533506.1:p.Leu3069Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573058426",
      "coordinates": [
        {
          "allele": "CA",
          "end": 9502,
          "referenceAllele": "TG",
          "start": 9500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.9302_9303delinsCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Leu3101Pro",
        "hgvsWellDefined": "NP_000050.3:p.Leu3101Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.9302_9303delinsCA"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.9302_9303delinsCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Leu3101Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Leu3101Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}