{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16611959",
  "communityStandardTitle": [
    "NC_000006.12:g.33441363_33441388del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395233[alleleid]",
        "alleleId": 395233,
        "preferredName": "NM_006772.3(SYNGAP1):c.2104_2115+14del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411590",
        "RCV": [
          "RCV000476459"
        ],
        "variationId": 411590
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33409140_33409165del?assembly=hg19",
        "id": "chr6:g.33409140_33409165del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33441363_33441388del?assembly=hg38",
        "id": "chr6:g.33441363_33441388del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792984",
        "rs": 1064792984
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33441388,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 33441362
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33441363_33441388del",
        "CM000668.2:g.33441363_33441388del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33409165,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 33409139
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33409140_33409165del",
        "CM000668.1:g.33409140_33409165del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33517143,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 33517117
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33517118_33517143del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 26319,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 26293
        }
      ],
      "hgvs": [
        "NG_016137.1:g.26294_26319del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 26319,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 26293
        }
      ],
      "hgvs": [
        "NG_016137.2:g.26294_26319del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616213"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1904,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000682587.1:c.1846_1857+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2115,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.7:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2125,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.7:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2310,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.3:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762522"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000636193.1:n.56_67+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 46,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000636640.1:n.35_46+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763273"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2320,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000638142.2:c.*501_*512+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764373"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2179,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000644458.1:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1938,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000645250.1:c.1927_1938+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2315,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000646630.1:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2070,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000293748.9:c.2059_2070+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS253902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2115,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.6:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS285478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2118,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000428982.4:c.1927_1938+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS290451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2125,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.6:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS300189"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2115,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000628646.2:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2310,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.2:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2310,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.2:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS031758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2310,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.1:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS511444"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2315,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.2:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS677080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2315,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "CAGCTCAGCAAGGTCAGCAGATCCCC",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.3:c.2104_2115+14del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS696812"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "endIntronDirection": "-",
          "endIntronOffset": 3878,
          "referenceAllele": "CTGCTGACCTTGCTGAGCTGGGGGAT",
          "start": 329,
          "startIntronDirection": "-",
          "startIntronOffset": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053831",
      "geneNCBI_id": 112390310,
      "geneSymbol": "SYNGAP1-AS1",
      "hgvs": [
        "NR_174954.1:n.330-3904_330-3879del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785077"
    }
  ],
  "type": "nucleotide"
}