{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA155637",
  "communityStandardTitle": [
    "NM_006772.3(SYNGAP1):c.2602del (p.Asp868ThrfsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135974[alleleid]",
        "alleleId": 135974,
        "preferredName": "NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/130528",
        "RCV": [
          "RCV000118568"
        ],
        "variationId": 130528
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33410931del?assembly=hg19",
        "id": "chr6:g.33410931del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33443154del?assembly=hg38",
        "id": "chr6:g.33443154del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587780474",
        "rs": 587780474
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33443154,
          "referenceAllele": "G",
          "start": 33443153
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33443154del",
        "CM000668.2:g.33443154del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33410931,
          "referenceAllele": "G",
          "start": 33410930
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33410931del",
        "CM000668.1:g.33410931del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33518909,
          "referenceAllele": "G",
          "start": 33518908
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33518909del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 28085,
          "referenceAllele": "G",
          "start": 28084
        }
      ],
      "hgvs": [
        "NG_016137.1:g.28085del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 28085,
          "referenceAllele": "G",
          "start": 28084
        }
      ],
      "hgvs": [
        "NG_016137.2:g.28085del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616213"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2391,
          "referenceAllele": "G",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000682587.1:c.2344del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507403.1:p.Asp782ThrfsTer10",
        "hgvsWellDefined": "ENSP00000507403.1:p.[Asp782_Ser787delinsThrCysCysThr;Ser790_Leu797del;Ala800_Gly803del;Leu805_Ser811del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2602,
          "referenceAllele": "G",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.7:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403636.3:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "ENSP00000403636.3:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.7:c.2560del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416519.4:p.Asp854ThrfsTer10",
        "hgvsWellDefined": "ENSP00000416519.4:p.[Asp854_Ser859delinsThrCysCysThr;Ser862_Leu869del;Ala872_Gly875del;Leu877_Ser883del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2797,
          "referenceAllele": "G",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.3:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486463.1:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "ENSP00000486463.1:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762522"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000644458.1:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495541.1:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "ENSP00000495541.1:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000645250.1:c.2425del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494861.1:p.Asp809ThrfsTer10",
        "hgvsWellDefined": "ENSP00000494861.1:p.[Asp809_Ser814delinsThrCysCysThr;Ser817_Leu824del;Ala827_Gly830del;Leu832_Ser838del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000646630.1:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496007.1:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "ENSP00000496007.1:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646630.1:c.2602del"
          },
          "RefSeq": {
            "hgvs": "NM_006772.3:c.2602del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496007.1:p.Asp868ThrfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_006763.2:p.Asp868ThrfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2557,
          "referenceAllele": "G",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000293748.9:c.2557del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293748.6:p.Asp853ThrfsTer10",
        "hgvsWellDefined": "ENSP00000293748.6:p.[Asp853_Ser858delinsThrCysCysThr;Ser861_Leu868del;Ala871_Gly874del;Leu876_Ser882del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2602,
          "referenceAllele": "G",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.6:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403636.3:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "ENSP00000403636.3:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2605,
          "referenceAllele": "G",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000428982.4:c.2425del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412475.2:p.Asp809ThrfsTer10",
        "hgvsWellDefined": "ENSP00000412475.2:p.[Asp809_Ser814delinsThrCysCysThr;Ser817_Leu824del;Ala827_Gly830del;Leu832_Ser838del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2570,
          "referenceAllele": "G",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.6:c.2560del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416519.3:p.Asp854ThrfsTer10",
        "hgvsWellDefined": "ENSP00000416519.3:p.[Asp854_Ser859delinsThrCysCysThr;Ser862_Leu869del;Ala872_Gly875del;Leu877_Ser883del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300189"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2602,
          "referenceAllele": "G",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000628646.2:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486431.1:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "ENSP00000486431.1:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2797,
          "referenceAllele": "G",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.2:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486463.1:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "ENSP00000486463.1:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2797,
          "referenceAllele": "G",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.2:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006763.2:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "NP_006763.2:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.1:c.2560del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123538.1:p.Asp854ThrfsTer10",
        "hgvsWellDefined": "NP_001123538.1:p.[Asp854_Ser859delinsThrCysCysThr;Ser862_Leu869del;Ala872_Gly875del;Leu877_Ser883del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511444"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2760,
          "referenceAllele": "G",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.2:c.2560del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123538.1:p.Asp854ThrfsTer10",
        "hgvsWellDefined": "NP_001123538.1:p.[Asp854_Ser859delinsThrCysCysThr;Ser862_Leu869del;Ala872_Gly875del;Leu877_Ser883del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.3:c.2602del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006763.2:p.Asp868ThrfsTer10",
        "hgvsWellDefined": "NP_006763.2:p.[Asp868_Ser873delinsThrCysCysThr;Ser876_Leu883del;Ala886_Gly889del;Leu891_Ser897del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646630.1:c.2602del"
          },
          "RefSeq": {
            "hgvs": "NM_006772.3:c.2602del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496007.1:p.Asp868ThrfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_006763.2:p.Asp868ThrfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 3455,
          "referenceAllele": "C",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 3454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053831",
      "geneNCBI_id": 112390310,
      "geneSymbol": "SYNGAP1-AS1",
      "hgvs": [
        "NR_174954.1:n.329+3455del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785077"
    }
  ],
  "type": "nucleotide"
}