{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621278",
  "communityStandardTitle": [
    "NM_001323289.2(CDKL5):c.1776_1777del (p.Ser593LeufsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411224[alleleid]",
        "alleleId": 411224,
        "preferredName": "NM_001323289.2(CDKL5):c.1776_1777del (p.Ser593fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422734",
        "RCV": [
          "RCV000487055"
        ],
        "variationId": 422734
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18622820_18622821del?assembly=hg19",
        "id": "chrX:g.18622820_18622821del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18604700_18604701del?assembly=hg38",
        "id": "chrX:g.18604700_18604701del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793376",
        "rs": 1064793376
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 18604701,
          "referenceAllele": "TT",
          "start": 18604699
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18604700_18604701del",
        "CM000685.2:g.18604700_18604701del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 18622821,
          "referenceAllele": "TT",
          "start": 18622819
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18622820_18622821del",
        "CM000685.1:g.18622820_18622821del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 18532742,
          "referenceAllele": "TT",
          "start": 18532740
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18532741_18532742del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 184097,
          "referenceAllele": "TT",
          "start": 184095
        }
      ],
      "hgvs": [
        "NG_008475.1:g.184096_184097del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2027,
          "referenceAllele": "TT",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.2:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "ENSP00000485244.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.1776_1777del"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.1776_1777del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Ser593LeufsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Ser593LeufsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2143,
          "referenceAllele": "TT",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000635828.1:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490170.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "ENSP00000490170.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762666"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2027,
          "referenceAllele": "TT",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000674046.1:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501174.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "ENSP00000501174.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774071"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2062,
          "referenceAllele": "TT",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:p.Ser593LeufsTer17",
        "hgvsWellDefined": "ENSP00000369325.3:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2052,
          "referenceAllele": "TT",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:p.Ser593LeufsTer17",
        "hgvsWellDefined": "ENSP00000369332.3:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2055,
          "referenceAllele": "TT",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000463994.4:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485184.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "ENSP00000485184.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307911"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1777,
          "referenceAllele": "TT",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.1:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "ENSP00000485244.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2026,
          "referenceAllele": "TT",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "NP_001032420.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2030,
          "referenceAllele": "TT",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "NP_003150.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1978,
          "referenceAllele": "TT",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.1725_1726del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:p.Ser576LeufsTer17",
        "hgvsWellDefined": "XP_011543871.1:p.[Ser576_Gly578del;Gly580_Tyr581delinsTrp;Ser583_Ser587delinsGlyLeuHis;Gln589_Arg590del;His592_Val598delinsLeuPhePheProAla;Arg600_Ala605delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1983,
          "referenceAllele": "TT",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.1644_1645del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:p.Ser549LeufsTer17",
        "hgvsWellDefined": "XP_011543872.1:p.[Ser549_Gly551del;Gly553_Tyr554delinsTrp;Ser556_Ser560delinsGlyLeuHis;Gln562_Arg563del;His565_Val571delinsLeuPhePheProAla;Arg573_Ala578delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2029,
          "referenceAllele": "TT",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.2028_2029del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1939,
          "referenceAllele": "TT",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.1:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "NP_001310218.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515313"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2027,
          "referenceAllele": "TT",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.2:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "NP_001310218.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.1776_1777del"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.1776_1777del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Ser593LeufsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Ser593LeufsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2026,
          "referenceAllele": "TT",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "NP_001032420.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2027,
          "referenceAllele": "TT",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.1776_1777del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Ser593LeufsTer17",
        "hgvsWellDefined": "NP_003150.1:p.[Ser593_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}