{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392230495",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.2834+1G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44912387C>G?assembly=hg19",
        "id": "chr15:g.44912387C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.44620189C>G?assembly=hg38",
        "id": "chr15:g.44620189C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 44620189,
          "referenceAllele": "C",
          "start": 44620188
        }
      ],
      "hgvs": [
        "NC_000015.10:g.44620189C>G",
        "CM000677.2:g.44620189C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 44912387,
          "referenceAllele": "C",
          "start": 44912386
        }
      ],
      "hgvs": [
        "NC_000015.9:g.44912387C>G",
        "CM000677.1:g.44912387C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 42699679,
          "referenceAllele": "C",
          "start": 42699678
        }
      ],
      "hgvs": [
        "NC_000015.8:g.42699679C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48490,
          "referenceAllele": "G",
          "start": 48489
        }
      ],
      "hgvs": [
        "NG_008885.1:g.48490G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2834,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.6:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453246.2:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682065.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507025.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682460.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508334.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682495.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507166.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682669.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682788.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508089.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2834,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682915.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507493.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683121.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507557.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683186.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507268.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683255.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508340.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683496.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506968.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2850,
          "referenceAllele": "G",
          "start": 2849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683573.1:c.2835G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508031.1:p.Arg945Ser",
        "hgvsWellDefined": "ENSP00000508031.1:p.Arg945Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683734.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508319.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1958,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1958,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683753.1:n.1958+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2597,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2597,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684038.1:c.2576+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507141.1:n.2576+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684235.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508295.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2875,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2875,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000684676.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506948.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.12:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.2834+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.2834+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:n.2834+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:n.2834+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2851,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2851,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000261866.11:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261866.7:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2834,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000427534.6:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396110.2:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2862,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2862,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000535302.6:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445278.2:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558319.5:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453599.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1677,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1677,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000558989.1:n.1677+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000560435.1:c.117G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452629.1:p.Arg39Ser",
        "hgvsWellDefined": "ENSP00000452629.1:p.Arg39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.3:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2601,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2601,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.2576+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:n.2576+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.2:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_011522093.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520395.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.1:n.2865+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.3:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022635.2:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878124.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.-183+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:n.-183+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_001751402.1:n.2865+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2865,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.2865+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.2834+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.2834+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:n.2834+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:n.2834+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.2834+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:n.2834+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}