{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA478853943",
  "communityStandardTitle": [
    "NM_000834.5(GRIN2B):c.98_99insG (p.Ser34GlnfsTer25)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.14019044_14019045insC?assembly=hg19",
        "id": "chr12:g.14019044_14019045insC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 13866110,
          "referenceAllele": "",
          "start": 13866110
        }
      ],
      "hgvs": [
        "NC_000012.12:g.13866110_13866111insC",
        "CM000674.2:g.13866110_13866111insC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 14019044,
          "referenceAllele": "",
          "start": 14019044
        }
      ],
      "hgvs": [
        "NC_000012.11:g.14019044_14019045insC",
        "CM000674.1:g.14019044_14019045insC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 13910311,
          "referenceAllele": "",
          "start": 13910311
        }
      ],
      "hgvs": [
        "NC_000012.10:g.13910311_13910312insC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 118978,
          "referenceAllele": "",
          "start": 118978
        }
      ],
      "hgvs": [
        "NG_031854.1:g.118978_118979insG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120902,
          "referenceAllele": "",
          "start": 120902
        }
      ],
      "hgvs": [
        "NG_031854.2:g.120902_120903insG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.4:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761752",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.98_99insG"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.98_99insG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Ser34GlnfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Ser34GlnfsTer25"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "referenceAllele": "",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000630791.2:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486677.2:p.Ser34GlnfsTer25",
        "hgvsWellDefined": "ENSP00000486677.2:p.[Ser34_Val42delinsGlnHisTrpHisCysCysHisProArg;Thr44_Ala53delinsHisPheArgArgGlyGly;Glu55_Leu62delinsGlnGlyCysProArgGluArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000609686.3:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477455.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000627535.2:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486411.1:p.Ser34GlnfsTer?",
        "hgvsWellDefined": "ENSP00000486411.1:p.Ser34_Ile35delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "ENST00000630791.1:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486677.1:p.Ser34GlnfsTer?",
        "hgvsWellDefined": "ENSP00000486677.1:p.Ser34_Ile35delinsGlnHis"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.3:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.1:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "referenceAllele": "",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.1:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520630.1:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518932.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.4:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1070,
          "referenceAllele": "",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520628.2:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518930.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 877,
          "referenceAllele": "",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_011520629.2:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518931.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "XM_017019219.2:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874708.1:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004586",
      "geneNCBI_id": 2904,
      "geneSymbol": "GRIN2B",
      "hgvs": [
        "NM_000834.5:c.98_99insG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000825.2:p.Ser34GlnfsTer25"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000609686.4:c.98_99insG"
          },
          "RefSeq": {
            "hgvs": "NM_000834.5:c.98_99insG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477455.1:p.Ser34GlnfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_000825.2:p.Ser34GlnfsTer25"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}