{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466570533",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.1187C= (p.Pro396=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922676",
        "rs": 193922676
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154030677,
          "referenceAllele": "G",
          "start": 154030676
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154030677G=",
        "CM000685.2:g.154030677G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153296128,
          "referenceAllele": "G",
          "start": 153296127
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153296128G=",
        "CM000685.1:g.153296128G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152949322,
          "referenceAllele": "G",
          "start": 152949321
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152949322G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111451,
          "referenceAllele": "C",
          "start": 111450
        }
      ],
      "hgvs": [
        "NG_007107.2:g.111451C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111427,
          "referenceAllele": "C",
          "start": 111426
        }
      ],
      "hgvs": [
        "NG_007107.3:g.111427C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.1151C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Pro384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1151C="
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1151C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Pro384="
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Pro384="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.1187C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Pro396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1187C="
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1187C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Pro396="
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Pro396="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.1151C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Pro384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1102,
          "referenceAllele": "C",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.*523C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:n.*523C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.1187C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Pro396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.1151C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Pro384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "referenceAllele": "C",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.*523C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.*523C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825559480",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.1187C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Pro396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826956132",
      "coordinates": [
        {
          "allele": "C",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565504",
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.1151C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Pro384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1406,
          "referenceAllele": "C",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.1151C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Pro384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.482C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Pro161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.482C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Pro161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825559480",
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.1187C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Pro396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1187C="
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1187C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Pro396="
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Pro396="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826956132",
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325613",
      "coordinates": [
        {
          "allele": "C",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326487",
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327346",
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328160",
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "referenceAllele": "C",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328160",
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "referenceAllele": "C",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.872C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Pro291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829068743",
      "coordinates": [
        {
          "allele": "C",
          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.482C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:p.Pro161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069332",
      "coordinates": [
        {
          "allele": "C",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.482C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Pro161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069789",
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.482C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Pro161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565504",
      "coordinates": [
        {
          "allele": "C",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1151C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Pro384="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1151C="
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1151C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Pro384="
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Pro384="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}