{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1260098985",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.2409+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151317754",
        "rs": 151317754
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71561945,
          "referenceAllele": "G",
          "start": 71561944
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71561945G=",
        "CM000664.2:g.71561945G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71789075,
          "referenceAllele": "G",
          "start": 71789074
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71789075G=",
        "CM000664.1:g.71789075G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71642583,
          "referenceAllele": "G",
          "start": 71642582
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71642583G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113323,
          "referenceAllele": "G",
          "start": 113322
        }
      ],
      "hgvs": [
        "NG_008694.1:g.113323G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.2355+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:n.2355+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.2355+1G="
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.2355+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:n.2355+1G="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:n.2355+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.2409+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:n.2409+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.2409+1G="
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.2409+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:n.2409+1G="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:n.2409+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2632,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2632,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.2355+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:n.2355+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.2358+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:n.2358+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.2358+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:n.2358+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2683,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2683,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.2406+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:n.2406+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2592,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2592,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.2451+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:n.2451+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2457,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2457,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.2316+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:n.2316+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2683,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2683,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.2406+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:n.2406+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2550,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.2409+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:n.2409+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2550,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.2409+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:n.2409+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2725,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2725,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.2448+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:n.2448+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2632,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2632,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.2355+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:n.2355+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.2358+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:n.2358+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2689,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2689,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.2313+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:n.2313+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2689,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2689,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.2313+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:n.2313+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2731,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2731,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.2355+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:n.2355+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.2448+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:n.2448+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2782,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2782,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.2406+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:n.2406+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2782,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2782,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.2406+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:n.2406+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2592,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2592,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.2451+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:n.2451+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2499,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.2358+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:n.2358+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2457,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2457,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.2316+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:n.2316+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2550,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.2409+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:n.2409+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2457,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2457,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.2316+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:n.2316+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2550,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.2409+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:n.2409+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2731,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2731,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.2355+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:n.2355+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2591,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2591,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.2451+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:n.2451+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3328,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3328,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.2448+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:n.2448+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.2451+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:n.2451+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3293,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3293,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.2448+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:n.2448+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2609,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2609,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.2609+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.2409+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:n.2409+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.2409+1G="
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.2409+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:n.2409+1G="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:n.2409+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2502,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2502,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.2358+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:n.2358+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2751,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2751,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.2313+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:n.2313+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2751,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2751,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.2313+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:n.2313+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.2355+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:n.2355+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2886,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2886,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.2448+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:n.2448+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2844,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2844,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.2406+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:n.2406+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2844,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2844,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.2406+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:n.2406+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2595,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.2451+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:n.2451+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2502,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2502,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.2358+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:n.2358+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2460,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2460,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.2316+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:n.2316+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.2409+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:n.2409+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2460,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2460,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.2316+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:n.2316+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.2355+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:n.2355+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.2355+1G="
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.2355+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:n.2355+1G="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:n.2355+1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}