{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA199405",
  "communityStandardTitle": [
    "NM_001323289.2(CDKL5):c.464-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187596[alleleid]",
        "alleleId": 187596,
        "preferredName": "NM_001323289.2(CDKL5):c.464-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189591",
        "RCV": [
          "RCV000170045"
        ],
        "variationId": 189591
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18602382G>A?assembly=hg19",
        "id": "chrX:g.18602382G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18584262G>A?assembly=hg38",
        "id": "chrX:g.18584262G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204986",
        "rs": 786204986
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-18584262-G-A?dataset=gnomad_r4",
        "id": "X-18584262-G-A",
        "variant": "X:18584262 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18584262,
          "referenceAllele": "G",
          "start": 18584261
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18584262G>A",
        "CM000685.2:g.18584262G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18602382,
          "referenceAllele": "G",
          "start": 18602381
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18602382G>A",
        "CM000685.1:g.18602382G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18512303,
          "referenceAllele": "G",
          "start": 18512302
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18512303G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163658,
          "referenceAllele": "G",
          "start": 163657
        }
      ],
      "hgvs": [
        "NG_008475.1:g.163658G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.2:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.464-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.464-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:n.464-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:n.464-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000635828.1:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490170.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000637881.1:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489879.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000674046.1:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501174.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 748,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000463994.4:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485184.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.1:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 712,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 716,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 715,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 669,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.332-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:n.332-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 715,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.716-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.1:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.2:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.464-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.464-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:n.464-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:n.464-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 712,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.464-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.464-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}