{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2499226115",
  "communityStandardTitle": [
    "NM_000268.4(NF2):c.1613dup (p.Leu539AlafsTer3)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983611[alleleid]",
        "alleleId": 983611,
        "preferredName": "NM_000268.4(NF2):c.1613dup (p.Leu539fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/995902",
        "RCV": [
          "RCV001523833"
        ],
        "variationId": 995902
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147122655",
        "rs": 2147122655
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 29681477,
          "referenceAllele": "",
          "start": 29681477
        }
      ],
      "hgvs": [
        "NC_000022.11:g.29681477dup",
        "CM000684.2:g.29681477dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 30077466,
          "referenceAllele": "",
          "start": 30077466
        }
      ],
      "hgvs": [
        "NC_000022.10:g.30077466dup",
        "CM000684.1:g.30077466dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 28407466,
          "referenceAllele": "",
          "start": 28407466
        }
      ],
      "hgvs": [
        "NC_000022.9:g.28407466dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82922,
          "referenceAllele": "",
          "start": 82922
        }
      ],
      "hgvs": [
        "NG_009057.1:g.82922dup",
        "LRG_511:g.82922dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001399"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.10:c.1478dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.6:p.Leu494AlafsTer3",
        "hgvsWellDefined": "ENSP00000354529.6:p.[Leu494_Glu502del;Leu504_Asp522delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "referenceAllele": "",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000673312.2:c.*1107dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500186.2:n.*1107dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000338641.10:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344666.5:p.Leu539AlafsTer3",
        "hgvsWellDefined": "ENSP00000344666.5:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338641.10:c.1613dup"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.1613dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344666.5:p.Leu539AlafsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Leu539AlafsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "referenceAllele": "",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.9:c.1031dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.5:p.Leu345AlafsTer3",
        "hgvsWellDefined": "ENSP00000354529.5:p.[Leu345_Glu353del;Leu355_Asp373delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "referenceAllele": "",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672461.1:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500919.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "ENSP00000500919.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2160,
          "referenceAllele": "",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672805.1:c.*1495dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500295.1:n.*1495dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672896.1:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500117.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "ENSP00000500117.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "referenceAllele": "",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000673312.1:c.1632dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500186.1:n.1632dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1636,
          "referenceAllele": "",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000334961.11:c.1364dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335652.7:p.Leu456AlafsTer3",
        "hgvsWellDefined": "ENSP00000335652.7:p.[Leu456_Glu464del;Leu466_Asp484delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2054,
          "referenceAllele": "",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000338641.8:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344666.4:p.Leu539AlafsTer3",
        "hgvsWellDefined": "ENSP00000344666.4:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000353887.8:c.1364dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340626.4:p.Leu456AlafsTer3",
        "hgvsWellDefined": "ENSP00000340626.4:p.[Leu456_Glu464del;Leu466_Asp484delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1613,
          "referenceAllele": "",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.8:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.4:p.Leu539AlafsTer3",
        "hgvsWellDefined": "ENSP00000354529.4:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361452.8:c.1490dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354897.4:p.Leu498AlafsTer3",
        "hgvsWellDefined": "ENSP00000354897.4:p.[Leu498_Glu506del;Leu508_Asp526delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1487,
          "referenceAllele": "",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361676.8:c.1487dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355183.4:p.Leu497AlafsTer3",
        "hgvsWellDefined": "ENSP00000355183.4:p.[Leu497_Glu505del;Leu507_Asp525delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1613,
          "referenceAllele": "",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000397789.3:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380891.3:p.Leu539AlafsTer3",
        "hgvsWellDefined": "ENSP00000380891.3:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1937,
          "referenceAllele": "",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000403435.5:c.1526dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384029.1:p.Leu510AlafsTer3",
        "hgvsWellDefined": "ENSP00000384029.1:p.[Leu510_Glu518del;Leu520_Asp538delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000403999.7:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384797.3:p.Leu539AlafsTer3",
        "hgvsWellDefined": "ENSP00000384797.3:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 13274,
          "referenceAllele": "",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 13274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000413209.6:c.448-13275dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409921.2:n.448-13275dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 3154,
          "referenceAllele": "",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000432151.5:c.*93+3154dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395885.1:n.*93+3154dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "referenceAllele": "",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.3:c.1613dup",
        "LRG_511t1:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "NP_000259.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "referenceAllele": "",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_016418.5:c.1613dup",
        "LRG_511t2:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_057502.2:p.Leu539AlafsTer3",
        "hgvsWellDefined": "NP_057502.2:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "referenceAllele": "",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.2:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "NP_861546.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1930,
          "referenceAllele": "",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.2:c.1487dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Leu497AlafsTer3",
        "hgvsWellDefined": "NP_861966.1:p.[Leu497_Glu505del;Leu507_Asp525delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1933,
          "referenceAllele": "",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.2:c.1490dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Leu498AlafsTer3",
        "hgvsWellDefined": "NP_861967.1:p.[Leu498_Glu506del;Leu508_Asp526delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.2:c.1364dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Leu456AlafsTer3",
        "hgvsWellDefined": "NP_861968.1:p.[Leu456_Glu464del;Leu466_Asp484delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.2:c.1364dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Leu456AlafsTer3",
        "hgvsWellDefined": "NP_861969.1:p.[Leu456_Glu464del;Leu466_Asp484delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "referenceAllele": "",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.2:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "NP_861970.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 13274,
          "referenceAllele": "",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 13274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.2:c.448-13275dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:n.448-13275dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2172,
          "referenceAllele": "",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.1:n.2172dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028809.2:c.1499dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884298.1:p.Leu501AlafsTer3",
        "hgvsWellDefined": "XP_016884298.1:p.[Leu501_Glu509del;Leu511_Asp529delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028810.1:c.1499dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884299.1:p.Leu501AlafsTer3",
        "hgvsWellDefined": "XP_016884299.1:p.[Leu501_Glu509del;Leu511_Asp529delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.4:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "NP_000259.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674769",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338641.10:c.1613dup"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.1613dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344666.5:p.Leu539AlafsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Leu539AlafsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.3:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "NP_861546.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1853,
          "referenceAllele": "",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.3:c.1487dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Leu497AlafsTer3",
        "hgvsWellDefined": "NP_861966.1:p.[Leu497_Glu505del;Leu507_Asp525delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.3:c.1490dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Leu498AlafsTer3",
        "hgvsWellDefined": "NP_861967.1:p.[Leu498_Glu506del;Leu508_Asp526delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.3:c.1364dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Leu456AlafsTer3",
        "hgvsWellDefined": "NP_861968.1:p.[Leu456_Glu464del;Leu466_Asp484delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.3:c.1364dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Leu456AlafsTer3",
        "hgvsWellDefined": "NP_861969.1:p.[Leu456_Glu464del;Leu466_Asp484delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.3:c.1613dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Leu539AlafsTer3",
        "hgvsWellDefined": "NP_861970.1:p.[Leu539_Glu547del;Leu549_Asp567delinsGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2095,
          "referenceAllele": "",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.2:n.2095dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 13274,
          "referenceAllele": "",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 13274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.3:c.448-13275dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:n.448-13275dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729746"
    }
  ],
  "type": "nucleotide"
}