{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044389",
  "communityStandardTitle": [
    "NM_006772.3(SYNGAP1):c.1685del (p.Pro562ArgfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362435[alleleid]",
        "alleleId": 362435,
        "preferredName": "NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375621",
        "RCV": [
          "RCV000417098"
        ],
        "variationId": 375621
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33408514del?assembly=hg19",
        "id": "chr6:g.33408514del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33440737del?assembly=hg38",
        "id": "chr6:g.33440737del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519405",
        "rs": 1057519405
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33440737,
          "referenceAllele": "C",
          "start": 33440736
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33440737del",
        "CM000668.2:g.33440737del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33408514,
          "referenceAllele": "C",
          "start": 33408513
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33408514del",
        "CM000668.1:g.33408514del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33516492,
          "referenceAllele": "C",
          "start": 33516491
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33516492del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 25668,
          "referenceAllele": "C",
          "start": 25667
        }
      ],
      "hgvs": [
        "NG_016137.1:g.25668del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 25668,
          "referenceAllele": "C",
          "start": 25667
        }
      ],
      "hgvs": [
        "NG_016137.2:g.25668del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616213"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000682587.1:c.1427del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507403.1:p.Pro476ArgfsTer4",
        "hgvsWellDefined": "ENSP00000507403.1:p.[Pro476del;Glu478_Arg493del;Arg495_Ile503del;Ala505del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.7:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403636.3:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000403636.3:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.7:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416519.4:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000416519.4:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.3:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486463.1:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000486463.1:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762522"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000638142.2:c.*82del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490803.1:n.*82del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764373"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000644458.1:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495541.1:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000495541.1:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000645250.1:c.1508del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494861.1:p.Pro503ArgfsTer4",
        "hgvsWellDefined": "ENSP00000494861.1:p.[Pro503del;Glu505_Arg520del;Arg522_Ile530del;Ala532del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1885,
          "referenceAllele": "C",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000646630.1:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496007.1:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000496007.1:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646630.1:c.1685del"
          },
          "RefSeq": {
            "hgvs": "NM_006772.3:c.1685del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496007.1:p.Pro562ArgfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_006763.2:p.Pro562ArgfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000293748.9:c.1640del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293748.6:p.Pro547ArgfsTer4",
        "hgvsWellDefined": "ENSP00000293748.6:p.[Pro547del;Glu549_Arg564del;Arg566_Ile574del;Ala576del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.6:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403636.3:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000403636.3:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000428982.4:c.1508del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412475.2:p.Pro503ArgfsTer4",
        "hgvsWellDefined": "ENSP00000412475.2:p.[Pro503del;Glu505_Arg520del;Arg522_Ile530del;Ala532del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.6:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416519.3:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000416519.3:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300189"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000628646.2:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486431.1:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000486431.1:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.2:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486463.1:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "ENSP00000486463.1:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.2:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006763.2:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "NP_006763.2:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.1:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123538.1:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "NP_001123538.1:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511444"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1885,
          "referenceAllele": "C",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.2:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123538.1:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "NP_001123538.1:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1885,
          "referenceAllele": "C",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.3:c.1685del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006763.2:p.Pro562ArgfsTer4",
        "hgvsWellDefined": "NP_006763.2:p.[Pro562del;Glu564_Arg579del;Arg581_Ile589del;Ala591del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646630.1:c.1685del"
          },
          "RefSeq": {
            "hgvs": "NM_006772.3:c.1685del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496007.1:p.Pro562ArgfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_006763.2:p.Pro562ArgfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "endIntronDirection": "-",
          "endIntronOffset": 3253,
          "referenceAllele": "G",
          "start": 329,
          "startIntronDirection": "-",
          "startIntronOffset": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053831",
      "geneNCBI_id": 112390310,
      "geneSymbol": "SYNGAP1-AS1",
      "hgvs": [
        "NR_174954.1:n.330-3254del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785077"
    }
  ],
  "type": "nucleotide"
}