{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621243",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.1245del (p.Glu416SerfsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411175[alleleid]",
        "alleleId": 411175,
        "preferredName": "NM_001110792.2(MECP2):c.1245del (p.Glu416fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424171",
        "RCV": [
          "RCV000480265"
        ],
        "variationId": 424171
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153296070del?assembly=hg19",
        "id": "chrX:g.153296070del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154030619del?assembly=hg38",
        "id": "chrX:g.154030619del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796837",
        "rs": 1064796837
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 154030619,
          "referenceAllele": "A",
          "start": 154030618
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154030619del",
        "CM000685.2:g.154030619del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 153296070,
          "referenceAllele": "A",
          "start": 153296069
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153296070del",
        "CM000685.1:g.153296070del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 152949264,
          "referenceAllele": "A",
          "start": 152949263
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152949264del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 111509,
          "referenceAllele": "T",
          "start": 111508
        }
      ],
      "hgvs": [
        "NG_007107.2:g.111509del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 111485,
          "referenceAllele": "T",
          "start": 111484
        }
      ],
      "hgvs": [
        "NG_007107.3:g.111485del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1421,
          "referenceAllele": "T",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Glu404SerfsTer5",
        "hgvsWellDefined": "ENSP00000301948.6:p.[Glu404_Leu408del;Ser410_Met418del;Gly421_Pro433delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1209del"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1209del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Glu404SerfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Glu404SerfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1297,
          "referenceAllele": "T",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.1245del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Glu416SerfsTer5",
        "hgvsWellDefined": "ENSP00000395535.2:p.[Glu416_Leu420del;Ser422_Met430del;Gly433_Pro445delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1245del"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1245del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Glu416SerfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Glu416SerfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1459,
          "referenceAllele": "T",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Glu404SerfsTer5",
        "hgvsWellDefined": "ENSP00000301948.6:p.[Glu404_Leu408del;Ser410_Met418del;Gly421_Pro433delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1160,
          "referenceAllele": "T",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.*581del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:n.*581del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1344,
          "referenceAllele": "T",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.1245del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Glu416SerfsTer5",
        "hgvsWellDefined": "ENSP00000395535.2:p.[Glu416_Leu420del;Ser422_Met430del;Gly433_Pro445delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1435,
          "referenceAllele": "T",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.1209del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Glu404SerfsTer5",
        "hgvsWellDefined": "ENSP00000480973.1:p.[Glu404_Leu408del;Ser410_Met418del;Gly421_Pro433delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1332,
          "referenceAllele": "T",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.*581del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.*581del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.1245del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Glu416SerfsTer5",
        "hgvsWellDefined": "NP_001104262.1:p.[Glu416_Leu420del;Ser422_Met430del;Gly433_Pro445delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1603,
          "referenceAllele": "T",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "NP_001303266.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1435,
          "referenceAllele": "T",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.1209del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Glu404SerfsTer5",
        "hgvsWellDefined": "NP_004983.1:p.[Glu404_Leu408del;Ser410_Met418del;Gly421_Pro433delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1464,
          "referenceAllele": "T",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.1209del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Glu404SerfsTer5",
        "hgvsWellDefined": "XP_005274738.1:p.[Glu404_Leu408del;Ser410_Met418del;Gly421_Pro433delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1503,
          "referenceAllele": "T",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "XP_005274739.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1721,
          "referenceAllele": "T",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "XP_005274740.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 740,
          "referenceAllele": "T",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.2:c.540del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Glu181SerfsTer5",
        "hgvsWellDefined": "XP_006724882.1:p.[Glu181_Leu185del;Ser187_Met195del;Gly198_Pro210delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1327,
          "referenceAllele": "T",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "XP_011529468.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1186,
          "referenceAllele": "T",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.540del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:p.Glu181SerfsTer5",
        "hgvsWellDefined": "XP_006724882.1:p.[Glu181_Leu185del;Ser187_Met195del;Gly198_Pro210delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1322,
          "referenceAllele": "T",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "XP_011529468.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1839,
          "referenceAllele": "T",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "XP_024308151.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1380,
          "referenceAllele": "T",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "XP_024308152.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1297,
          "referenceAllele": "T",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.1245del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Glu416SerfsTer5",
        "hgvsWellDefined": "NP_001104262.1:p.[Glu416_Leu420del;Ser422_Met430del;Gly433_Pro445delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1245del"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1245del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Glu416SerfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Glu416SerfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1589,
          "referenceAllele": "T",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "NP_001303266.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1884,
          "referenceAllele": "T",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "NP_001356320.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1533,
          "referenceAllele": "T",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "NP_001356321.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1409,
          "referenceAllele": "T",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "NP_001356322.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "NP_001356323.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Glu311SerfsTer5",
        "hgvsWellDefined": "NP_001356323.1:p.[Glu311_Leu315del;Ser317_Met325del;Gly328_Pro340delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1424,
          "referenceAllele": "T",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.540del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:p.Glu181SerfsTer5",
        "hgvsWellDefined": "NP_001373066.1:p.[Glu181_Leu185del;Ser187_Met195del;Gly198_Pro210delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "T",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.540del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Glu181SerfsTer5",
        "hgvsWellDefined": "NP_001373067.1:p.[Glu181_Leu185del;Ser187_Met195del;Gly198_Pro210delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1188,
          "referenceAllele": "T",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.540del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Glu181SerfsTer5",
        "hgvsWellDefined": "NP_001373068.1:p.[Glu181_Leu185del;Ser187_Met195del;Gly198_Pro210delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1421,
          "referenceAllele": "T",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1209del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Glu404SerfsTer5",
        "hgvsWellDefined": "NP_004983.1:p.[Glu404_Leu408del;Ser410_Met418del;Gly421_Pro433delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1209del"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1209del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Glu404SerfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Glu404SerfsTer5"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}