{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA186054",
  "communityStandardTitle": [
    "NM_015046.7(SETX):c.5222dup (p.Asp1742ArgfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181428[alleleid]",
        "alleleId": 181428,
        "preferredName": "NM_015046.7(SETX):c.5222dup (p.Asp1742fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183294",
        "RCV": [
          "RCV000162115",
          "RCV000516643"
        ],
        "variationId": 183294
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135201763dupC?assembly=hg19",
        "id": "chr9:g.135201763dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135201762_135201763insC?assembly=hg19",
        "id": "chr9:g.135201762_135201763insC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132326376dupC?assembly=hg38",
        "id": "chr9:g.132326376dupC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132326375_132326376insC?assembly=hg38",
        "id": "chr9:g.132326375_132326376insC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730882209",
        "rs": 730882209
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132326377,
          "referenceAllele": "",
          "start": 132326377
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132326377dup",
        "CM000671.2:g.132326377dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 135201764,
          "referenceAllele": "",
          "start": 135201764
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135201764dup",
        "CM000671.1:g.135201764dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 134191585,
          "referenceAllele": "",
          "start": 134191585
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134191585dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33610,
          "referenceAllele": "",
          "start": 33610
        }
      ],
      "hgvs": [
        "NG_007946.1:g.33610dup",
        "LRG_268:g.33610dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.6:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "ENSP00000224140.5:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.5222dup"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.5222dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Asp1742ArgfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Asp1742ArgfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5405,
          "referenceAllele": "",
          "start": 5405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.5:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "ENSP00000224140.5:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5405,
          "referenceAllele": "",
          "start": 5405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.5:c.5222dup",
        "LRG_268t1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "NP_055861.3:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272171.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272228.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_005272228.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5504,
          "referenceAllele": "",
          "start": 5504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_005272229.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5542,
          "referenceAllele": "",
          "start": 5542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_005272230.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5546,
          "referenceAllele": "",
          "start": 5546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516706.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5360,
          "referenceAllele": "",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516707.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516708.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518407.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516709.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516709.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516710.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5190,
          "endIntronDirection": "+",
          "endIntronOffset": 216,
          "referenceAllele": "",
          "start": 5190,
          "startIntronDirection": "+",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.1:n.5190+216dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5542,
          "referenceAllele": "",
          "start": 5542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "NP_001338456.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.1:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "NP_001338457.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.6:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "NP_055861.3:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5504,
          "referenceAllele": "",
          "start": 5504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.3:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_005272229.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5542,
          "referenceAllele": "",
          "start": 5542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.3:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_005272230.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5546,
          "referenceAllele": "",
          "start": 5546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.3:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516706.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5564,
          "referenceAllele": "",
          "start": 5564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.3:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516707.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.2:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516708.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.3:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "XP_011516710.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 577,
          "referenceAllele": "",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_017014496.1:c.-274+577dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869985.1:n.-274+577dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4829,
          "endIntronDirection": "+",
          "endIntronOffset": 577,
          "referenceAllele": "",
          "start": 4829,
          "startIntronDirection": "+",
          "startIntronOffset": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_001746251.1:n.4829+577dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5190,
          "endIntronDirection": "+",
          "endIntronOffset": 216,
          "referenceAllele": "",
          "start": 5190,
          "startIntronDirection": "+",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.2:n.5190+216dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.7:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "NP_055861.3:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.5222dup"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.5222dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Asp1742ArgfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Asp1742ArgfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5406,
          "referenceAllele": "",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.2:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "NP_001338457.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5542,
          "referenceAllele": "",
          "start": 5542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.2:c.5222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Asp1742ArgfsTer4",
        "hgvsWellDefined": "NP_001338456.1:p.[Asp1742_Pro1749delinsArg;Met1751_Thr1755del;Glu1757_Glu1770del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719848"
    }
  ],
  "type": "nucleotide"
}