{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA025225",
  "communityStandardTitle": [
    "NM_000059.4(BRCA2):c.7680dup (p.Gln2561SerfsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67053[alleleid]",
        "alleleId": 67053,
        "preferredName": "NM_000059.4(BRCA2):c.7680dup (p.Gln2561fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52385",
        "RCV": [
          "RCV000082977",
          "RCV001026706",
          "RCV001382661"
        ],
        "variationId": 52385
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32931941dupT?assembly=hg19",
        "id": "chr13:g.32931941dupT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.32357804dupT?assembly=hg38",
        "id": "chr13:g.32357804dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80359673",
        "rs": 80359673
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 32357804,
          "referenceAllele": "",
          "start": 32357804
        }
      ],
      "hgvs": [
        "NC_000013.11:g.32357804dup",
        "CM000675.2:g.32357804dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 32931941,
          "referenceAllele": "",
          "start": 32931941
        }
      ],
      "hgvs": [
        "NC_000013.10:g.32931941dup",
        "CM000675.1:g.32931941dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 31829941,
          "referenceAllele": "",
          "start": 31829941
        }
      ],
      "hgvs": [
        "NC_000013.9:g.31829941dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47325,
          "referenceAllele": "",
          "start": 47325
        }
      ],
      "hgvs": [
        "NG_012772.3:g.47325dup",
        "LRG_293:g.47325dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "",
          "start": 7879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000470094.2:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434898.2:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000434898.2:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "",
          "start": 7879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000528762.2:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433168.2:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000433168.2:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7878,
          "referenceAllele": "",
          "start": 7878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000530893.7:c.7311dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499438.2:p.Gln2438SerfsTer5",
        "hgvsWellDefined": "ENSP00000499438.2:p.[Gln2438_Glu2448delinsSerVal;Leu2450_Ser2467delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "",
          "start": 7879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.2:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499570.2:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000499570.2:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "",
          "start": 7879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000666593.2:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499256.2:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000499256.2:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "",
          "start": 7879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.2:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.2:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000514856.2:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000700202.1:c.147dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514856.1:p.Gln50SerfsTer5",
        "hgvsWellDefined": "ENSP00000514856.1:p.[Gln50_Glu60delinsSerVal;Leu62_Ser79delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "",
          "start": 7879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.8:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000369497.3:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.7680dup"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.7680dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Gln2561SerfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Gln2561SerfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7779,
          "referenceAllele": "",
          "start": 7779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.6:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000439902.1:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7680,
          "referenceAllele": "",
          "start": 7680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.2:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506251.1:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000506251.1:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000665585.1:c.245dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7805,
          "referenceAllele": "",
          "start": 7805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000680887.1:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505508.1:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000505508.1:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7913,
          "referenceAllele": "",
          "start": 7913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000380152.7:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369497.3:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000369497.3:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7907,
          "referenceAllele": "",
          "start": 7907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000544455.5:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439902.1:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "ENSP00000439902.1:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7680,
          "referenceAllele": "",
          "start": 7680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "ENST00000614259.1:n.7680dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7907,
          "referenceAllele": "",
          "start": 7907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.3:c.7680dup",
        "LRG_293t1:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.2:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "NP_000050.2:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8003,
          "referenceAllele": "",
          "start": 8003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535203.1:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533505.1:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "XP_011533505.1:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7817,
          "referenceAllele": "",
          "start": 7817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535204.1:c.7584dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533506.1:p.Gln2529SerfsTer5",
        "hgvsWellDefined": "XP_011533506.1:p.[Gln2529_Glu2539delinsSerVal;Leu2541_Ser2558delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7913,
          "referenceAllele": "",
          "start": 7913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "XM_011535205.1:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533507.1:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "XP_011533507.1:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7879,
          "referenceAllele": "",
          "start": 7879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NM_000059.4:c.7680dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000050.3:p.Gln2561SerfsTer5",
        "hgvsWellDefined": "NP_000050.3:p.[Gln2561_Glu2571delinsSerVal;Leu2573_Ser2590delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380152.8:c.7680dup"
          },
          "RefSeq": {
            "hgvs": "NM_000059.4:c.7680dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369497.3:p.Gln2561SerfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000050.3:p.Gln2561SerfsTer5"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}