{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270258",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.1203_1236del (p.Pro402AlafsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153143[alleleid]",
        "alleleId": 153143,
        "preferredName": "NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143411",
        "RCV": [
          "RCV000132937",
          "RCV001849956"
        ],
        "variationId": 143411
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153296079_153296112del?assembly=hg19",
        "id": "chrX:g.153296079_153296112del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154030628_154030661del?assembly=hg38",
        "id": "chrX:g.154030628_154030661del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608343",
        "rs": 267608343
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154030627-TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA-T?dataset=gnomad_r3",
        "id": "X-154030627-TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA-T",
        "variant": "X:154030627 TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154030627-TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA-T?dataset=gnomad_r4",
        "id": "X-154030627-TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA-T",
        "variant": "X:154030627 TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 154030668,
          "referenceAllele": "TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG",
          "start": 154030634
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154030635_154030668del",
        "CM000685.2:g.154030635_154030668del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 153296119,
          "referenceAllele": "TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG",
          "start": 153296085
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153296086_153296119del",
        "CM000685.1:g.153296086_153296119del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 152949313,
          "referenceAllele": "TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG",
          "start": 152949279
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152949280_152949313del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 111500,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 111466
        }
      ],
      "hgvs": [
        "NG_007107.2:g.111467_111500del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 111476,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 111442
        }
      ],
      "hgvs": [
        "NG_007107.3:g.111443_111476del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1412,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.1167_1200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Pro390AlafsTer8",
        "hgvsWellDefined": "ENSP00000301948.6:p.[Pro390Ala;Glu392_Asp407del;Ser410_Met418del;Gly421_Pro430delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1167_1200del"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1167_1200del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Pro390AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Pro390AlafsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1288,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.1203_1236del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Pro402AlafsTer8",
        "hgvsWellDefined": "ENSP00000395535.2:p.[Pro402Ala;Glu404_Asp419del;Ser422_Met430del;Gly433_Pro442delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1203_1236del"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1203_1236del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Pro402AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Pro402AlafsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1450,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.1167_1200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Pro390AlafsTer8",
        "hgvsWellDefined": "ENSP00000301948.6:p.[Pro390Ala;Glu392_Asp407del;Ser410_Met418del;Gly421_Pro430delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1151,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.*539_*572del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:n.*539_*572del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1335,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.1203_1236del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Pro402AlafsTer8",
        "hgvsWellDefined": "ENSP00000395535.2:p.[Pro402Ala;Glu404_Asp419del;Ser422_Met430del;Gly433_Pro442delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1426,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.1167_1200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Pro390AlafsTer8",
        "hgvsWellDefined": "ENSP00000480973.1:p.[Pro390Ala;Glu392_Asp407del;Ser410_Met418del;Gly421_Pro430delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1323,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.*539_*572del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.*539_*572del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1302,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.1203_1236del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Pro402AlafsTer8",
        "hgvsWellDefined": "NP_001104262.1:p.[Pro402Ala;Glu404_Asp419del;Ser422_Met430del;Gly433_Pro442delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1594,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "NP_001303266.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1426,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.1167_1200del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Pro390AlafsTer8",
        "hgvsWellDefined": "NP_004983.1:p.[Pro390Ala;Glu392_Asp407del;Ser410_Met418del;Gly421_Pro430delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1455,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.1167_1200del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Pro390AlafsTer8",
        "hgvsWellDefined": "XP_005274738.1:p.[Pro390Ala;Glu392_Asp407del;Ser410_Met418del;Gly421_Pro430delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1494,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "XP_005274739.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1712,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "XP_005274740.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 731,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.498_531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Pro167AlafsTer8",
        "hgvsWellDefined": "XP_006724882.1:p.[Pro167Ala;Glu169_Asp184del;Ser187_Met195del;Gly198_Pro207delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "XP_011529468.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1177,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.498_531del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Pro167AlafsTer8",
        "hgvsWellDefined": "XP_006724882.1:p.[Pro167Ala;Glu169_Asp184del;Ser187_Met195del;Gly198_Pro207delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1313,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "XP_011529468.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1830,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "XP_024308151.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1371,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "XP_024308152.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1288,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.1203_1236del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Pro402AlafsTer8",
        "hgvsWellDefined": "NP_001104262.1:p.[Pro402Ala;Glu404_Asp419del;Ser422_Met430del;Gly433_Pro442delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1203_1236del"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1203_1236del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Pro402AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Pro402AlafsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1580,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "NP_001303266.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1875,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "NP_001356320.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1524,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "NP_001356321.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1400,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "NP_001356322.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1331,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "NP_001356323.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1331,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.888_921del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Pro297AlafsTer8",
        "hgvsWellDefined": "NP_001356323.1:p.[Pro297Ala;Glu299_Asp314del;Ser317_Met325del;Gly328_Pro337delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1415,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.498_531del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:p.Pro167AlafsTer8",
        "hgvsWellDefined": "NP_001373066.1:p.[Pro167Ala;Glu169_Asp184del;Ser187_Met195del;Gly198_Pro207delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1303,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.498_531del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Pro167AlafsTer8",
        "hgvsWellDefined": "NP_001373067.1:p.[Pro167Ala;Glu169_Asp184del;Ser187_Met195del;Gly198_Pro207delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1179,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.498_531del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Pro167AlafsTer8",
        "hgvsWellDefined": "NP_001373068.1:p.[Pro167Ala;Glu169_Asp184del;Ser187_Met195del;Gly198_Pro207delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1412,
          "referenceAllele": "GAGCCCGAGAGCTCCGAGGACCCCACCTCCACCT",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1167_1200del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Pro390AlafsTer8",
        "hgvsWellDefined": "NP_004983.1:p.[Pro390Ala;Glu392_Asp407del;Ser410_Met418del;Gly421_Pro430delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1167_1200del"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1167_1200del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Pro390AlafsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Pro390AlafsTer8"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}