{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1519933353",
  "communityStandardTitle": [
    "NM_000128.4(F11):c.485+122T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1593",
        "rs": 1593
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 186274397,
          "referenceAllele": "T",
          "start": 186274396
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186274397T=",
        "CM000666.2:g.186274397T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187195551,
          "referenceAllele": "T",
          "start": 187195550
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187195551T=",
        "CM000666.1:g.187195551T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187432545,
          "referenceAllele": "T",
          "start": 187432544
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187432545T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13434,
          "referenceAllele": "T",
          "start": 13433
        }
      ],
      "hgvs": [
        "NG_008051.1:g.13434T=",
        "LRG_583:g.13434T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 593,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.7:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754055",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.485+122T="
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.485+122T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:n.485+122T="
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:n.485+122T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 1222,
          "referenceAllele": "T",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264692.8:c.323+1222T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264692.5:n.323+1222T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.6:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "T",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000492972.6:c.*118T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424479.1:n.*118T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000514715.1:n.479T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.3:c.485+122T=",
        "LRG_583t1:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.2:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.2:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.2:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262824.1:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262881.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.1:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938706.1:n.837+122T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938707.1:n.837+122T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "T",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_001354804.1:c.*118T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341733.1:n.*118T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.4:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.4:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.4:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.3:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007884.2:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863373.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007885.2:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863374.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007886.2:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863375.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 818,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_001741172.2:n.818+122T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "T",
          "start": 593,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.4:c.485+122T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:n.485+122T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.485+122T="
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.485+122T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:n.485+122T="
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:n.485+122T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_001354804.2:c.*118T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341733.1:n.*118T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690322"
    }
  ],
  "type": "nucleotide"
}