{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16612030",
  "communityStandardTitle": [
    "NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391GlnfsTer27)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395445[alleleid]",
        "alleleId": 395445,
        "preferredName": "NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411566",
        "RCV": [
          "RCV000457705",
          "RCV000482994",
          "RCV004022880"
        ],
        "variationId": 411566
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33405849_33405850del?assembly=hg19",
        "id": "chr6:g.33405849_33405850del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.33438072_33438073del?assembly=hg38",
        "id": "chr6:g.33438072_33438073del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503378",
        "rs": 1060503378
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33438073,
          "referenceAllele": "AG",
          "start": 33438071
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33438072_33438073del",
        "CM000668.2:g.33438072_33438073del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33405850,
          "referenceAllele": "AG",
          "start": 33405848
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33405849_33405850del",
        "CM000668.1:g.33405849_33405850del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "",
          "end": 33513828,
          "referenceAllele": "AG",
          "start": 33513826
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33513827_33513828del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23004,
          "referenceAllele": "AG",
          "start": 23002
        }
      ],
      "hgvs": [
        "NG_016137.1:g.23003_23004del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23004,
          "referenceAllele": "AG",
          "start": 23002
        }
      ],
      "hgvs": [
        "NG_016137.2:g.23003_23004del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616213"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 957,
          "referenceAllele": "AG",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000682587.1:c.909_910del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507403.1:p.Gly305GlnfsTer27",
        "hgvsWellDefined": "ENSP00000507403.1:p.[Gly305_Lys306delinsGln;Lys308_Cys311delinsGlnArgArgLeu;Ala313_Lys317delinsGlyCysAla;Arg319_Gln321delinsGluSer;Met323_Ile325del;Met328delinsAspAsn;Glu329_Leu330insHis;Tyr331_Glu333delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1168,
          "referenceAllele": "AG",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.7:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403636.3:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000403636.3:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754750"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1178,
          "referenceAllele": "AG",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.7:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416519.4:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000416519.4:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1363,
          "referenceAllele": "AG",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.3:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486463.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000486463.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762522"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1197,
          "referenceAllele": "AG",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000638142.2:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490803.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000490803.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764373"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1232,
          "referenceAllele": "AG",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000644458.1:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495541.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000495541.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767823"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 991,
          "referenceAllele": "AG",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000645250.1:c.990_991del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494861.1:p.Gly332GlnfsTer27",
        "hgvsWellDefined": "ENSP00000494861.1:p.[Gly332_Lys333delinsGln;Lys335_Cys338delinsGlnArgArgLeu;Ala340_Lys344delinsGlyCysAla;Arg346_Gln348delinsGluSer;Met350_Ile352del;Met355delinsAspAsn;Glu356_Leu357insHis;Tyr358_Glu360delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1368,
          "referenceAllele": "AG",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000646630.1:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496007.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000496007.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646630.1:c.1167_1168del"
          },
          "RefSeq": {
            "hgvs": "NM_006772.3:c.1167_1168del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496007.1:p.Gly391GlnfsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_006763.2:p.Gly391GlnfsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1123,
          "referenceAllele": "AG",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000293748.9:c.1122_1123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293748.6:p.Gly376GlnfsTer27",
        "hgvsWellDefined": "ENSP00000293748.6:p.[Gly376_Lys377delinsGln;Lys379_Cys382delinsGlnArgArgLeu;Ala384_Lys388delinsGlyCysAla;Arg390_Gln392delinsGluSer;Met394_Ile396del;Met399delinsAspAsn;Glu400_Leu401insHis;Tyr402_Glu404delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253902"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1168,
          "referenceAllele": "AG",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000418600.6:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403636.3:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000403636.3:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1171,
          "referenceAllele": "AG",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000428982.4:c.990_991del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412475.2:p.Gly332GlnfsTer27",
        "hgvsWellDefined": "ENSP00000412475.2:p.[Gly332_Lys333delinsGln;Lys335_Cys338delinsGlnArgArgLeu;Ala340_Lys344delinsGlyCysAla;Arg346_Gln348delinsGluSer;Met350_Ile352del;Met355delinsAspAsn;Glu356_Leu357insHis;Tyr358_Glu360delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1178,
          "referenceAllele": "AG",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000449372.6:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416519.3:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000416519.3:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300189"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1363,
          "referenceAllele": "AG",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000479510.2:n.1362_1363del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319874"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1168,
          "referenceAllele": "AG",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000628646.2:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486431.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000486431.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407085"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1363,
          "referenceAllele": "AG",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "ENST00000629380.2:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486463.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "ENSP00000486463.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1363,
          "referenceAllele": "AG",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.2:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006763.2:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "NP_006763.2:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1363,
          "referenceAllele": "AG",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.1:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123538.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "NP_001123538.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511444"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1368,
          "referenceAllele": "AG",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_001130066.2:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123538.1:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "NP_001123538.1:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677080"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1368,
          "referenceAllele": "AG",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011497",
      "geneNCBI_id": 8831,
      "geneSymbol": "SYNGAP1",
      "hgvs": [
        "NM_006772.3:c.1167_1168del"
      ],
      "proteinEffect": {
        "hgvs": "NP_006763.2:p.Gly391GlnfsTer27",
        "hgvsWellDefined": "NP_006763.2:p.[Gly391_Lys392delinsGln;Lys394_Cys397delinsGlnArgArgLeu;Ala399_Lys403delinsGlyCysAla;Arg405_Gln407delinsGluSer;Met409_Ile411del;Met414delinsAspAsn;Glu415_Leu416insHis;Tyr417_Glu419delinsAlaHisGlyAlaIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696812",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646630.1:c.1167_1168del"
          },
          "RefSeq": {
            "hgvs": "NM_006772.3:c.1167_1168del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496007.1:p.Gly391GlnfsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_006763.2:p.Gly391GlnfsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 329,
          "endIntronDirection": "-",
          "endIntronOffset": 590,
          "referenceAllele": "CT",
          "start": 329,
          "startIntronDirection": "-",
          "startIntronOffset": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053831",
      "geneNCBI_id": 112390310,
      "geneSymbol": "SYNGAP1-AS1",
      "hgvs": [
        "NR_174954.1:n.330-592_330-591del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785077"
    }
  ],
  "type": "nucleotide"
}