{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2740092910",
  "communityStandardTitle": [
    "NM_015046.7(SETX):c.1391_1392delinsTG (p.Ser464Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101916[alleleid]",
        "alleleId": 3101916,
        "preferredName": "NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2947330",
        "RCV": [
          "RCV003801520"
        ],
        "variationId": 2947330
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "CA",
          "end": 132330207,
          "referenceAllele": "TG",
          "start": 132330205
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132330206_132330207delinsCA",
        "CM000671.2:g.132330206_132330207delinsCA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "CA",
          "end": 135205594,
          "referenceAllele": "TG",
          "start": 135205592
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135205593_135205594delinsCA",
        "CM000671.1:g.135205593_135205594delinsCA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "CA",
          "end": 134195415,
          "referenceAllele": "TG",
          "start": 134195413
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134195414_134195415delinsCA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 29780,
          "referenceAllele": "CA",
          "start": 29778
        }
      ],
      "hgvs": [
        "NG_007946.1:g.29779_29780delinsTG",
        "LRG_268:g.29779_29780delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.6:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Ser464Leu",
        "hgvsWellDefined": "ENSP00000224140.5:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.1391_1392delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.1391_1392delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Ser464Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Ser464Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1575,
          "referenceAllele": "CA",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.5:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Ser464Leu",
        "hgvsWellDefined": "ENSP00000224140.5:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426218",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1575,
          "referenceAllele": "CA",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.5:c.1391_1392delinsTG",
        "LRG_268t1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Ser464Leu",
        "hgvsWellDefined": "NP_055861.3:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033695"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272171.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272228.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_005272228.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067165"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1674,
          "referenceAllele": "CA",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_005272229.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067166"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1712,
          "referenceAllele": "CA",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_005272230.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067167"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1716,
          "referenceAllele": "CA",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516706.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085578"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1530,
          "referenceAllele": "CA",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516707.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085579"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516708.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085580"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518407.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516709.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516709.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085581"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516710.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085582"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.1:n.1575_1576delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827616198",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1712,
          "referenceAllele": "CA",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Ser464Leu",
        "hgvsWellDefined": "NP_001338456.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827617527",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.1:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Ser464Leu",
        "hgvsWellDefined": "NP_001338457.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426218",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.6:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Ser464Leu",
        "hgvsWellDefined": "NP_055861.3:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525651"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1674,
          "referenceAllele": "CA",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.3:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_005272229.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537256"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1712,
          "referenceAllele": "CA",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.3:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_005272230.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537257"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1716,
          "referenceAllele": "CA",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.3:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516706.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544905"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1734,
          "referenceAllele": "CA",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.3:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516707.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544906"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.2:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516708.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544907"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.3:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Ser464Leu",
        "hgvsWellDefined": "XP_011516710.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544908"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_001746251.1:n.1575_1576delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594602"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.2:n.1575_1576delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426218",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.7:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Ser464Leu",
        "hgvsWellDefined": "NP_055861.3:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.1391_1392delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.1391_1392delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Ser464Leu"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Ser464Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827617527",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1576,
          "referenceAllele": "CA",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.2:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Ser464Leu",
        "hgvsWellDefined": "NP_001338457.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827616198",
      "coordinates": [
        {
          "allele": "TG",
          "end": 1712,
          "referenceAllele": "CA",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.2:c.1391_1392delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Ser464Leu",
        "hgvsWellDefined": "NP_001338456.1:p.Ser464Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719848"
    }
  ],
  "type": "nucleotide"
}