{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2216944847",
  "communityStandardTitle": [
    "NM_004960.4(FUS):c.646C= (p.Arg216=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606832",
        "rs": 267606832
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 31185061,
          "referenceAllele": "C",
          "start": 31185060
        }
      ],
      "hgvs": [
        "NC_000016.10:g.31185061C=",
        "CM000678.2:g.31185061C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 31196382,
          "referenceAllele": "C",
          "start": 31196381
        }
      ],
      "hgvs": [
        "NC_000016.9:g.31196382C=",
        "CM000678.1:g.31196382C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 31103883,
          "referenceAllele": "C",
          "start": 31103882
        }
      ],
      "hgvs": [
        "NC_000016.8:g.31103883C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9930,
          "referenceAllele": "C",
          "start": 9929
        }
      ],
      "hgvs": [
        "NG_012889.2:g.9930C=",
        "LRG_655:g.9930C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000254108.12:c.646C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254108.8:p.Arg216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254108.12:c.646C="
          },
          "RefSeq": {
            "hgvs": "NM_004960.4:c.646C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254108.8:p.Arg216="
          },
          "RefSeq": {
            "hgvs": "NP_004951.1:p.Arg216="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000254108.11:c.646C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254108.7:p.Arg216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000380244.7:c.643C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369594.3:p.Arg215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000487509.6:n.711C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000566605.5:c.646C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455073.1:p.Arg216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000568685.1:c.646C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455282.1:p.Arg216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826069239",
      "coordinates": [
        {
          "allele": "C",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_001170634.1:c.643C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001164105.1:p.Arg215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826075642",
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_001170937.1:c.634C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001164408.1:p.Arg212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829557015",
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_004960.3:c.646C=",
        "LRG_655t1:c.646C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004951.1:p.Arg216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NR_028388.2:n.751C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_005255233.3:c.66C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255290.1:p.Ala22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_011545781.1:c.640C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011544083.1:p.Arg214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_011545782.1:c.66C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011544084.1:p.Ala22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_005255233.5:c.66C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255290.1:p.Ala22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_011545782.2:c.66C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011544084.1:p.Ala22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_024450221.1:c.637C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305989.1:p.Arg213="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829557015",
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_004960.4:c.646C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004951.1:p.Arg216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254108.12:c.646C="
          },
          "RefSeq": {
            "hgvs": "NM_004960.4:c.646C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254108.8:p.Arg216="
          },
          "RefSeq": {
            "hgvs": "NP_004951.1:p.Arg216="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}