{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA199391",
  "communityStandardTitle": [
    "NM_001323289.2(CDKL5):c.2376+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165877[alleleid]",
        "alleleId": 165877,
        "preferredName": "NM_001323289.2(CDKL5):c.2376+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156081",
        "RCV": [
          "RCV000144128",
          "RCV000170021"
        ],
        "variationId": 156081
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18638087G>C?assembly=hg19",
        "id": "chrX:g.18638087G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18619967G>C?assembly=hg38",
        "id": "chrX:g.18619967G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608656",
        "rs": 267608656
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18619967,
          "referenceAllele": "G",
          "start": 18619966
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18619967G>C",
        "CM000685.2:g.18619967G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18638087,
          "referenceAllele": "G",
          "start": 18638086
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18638087G>C",
        "CM000685.1:g.18638087G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18548008,
          "referenceAllele": "G",
          "start": 18548007
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18548008G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199363,
          "referenceAllele": "G",
          "start": 199362
        }
      ],
      "hgvs": [
        "NG_008475.1:g.199363G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.2:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.2376+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.2376+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:n.2376+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:n.2376+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2742,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2742,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000635828.1:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490170.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000674046.1:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501174.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2661,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2661,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2651,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2651,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2376,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2376,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.1:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2629,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2629,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2577,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2577,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.2325+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:n.2325+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2582,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2582,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.2244+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:n.2244+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2628,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2628,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.2628+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2538,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2538,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.1:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.2:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.2376+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.2376+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:n.2376+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:n.2376+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.2376+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2376+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}