{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043312",
  "communityStandardTitle": [
    "NM_000444.6(PHEX):c.1768+2dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360683[alleleid]",
        "alleleId": 360683,
        "preferredName": "NM_000444.6(PHEX):c.1768+2dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372462",
        "RCV": [
          "RCV000412973"
        ],
        "variationId": 372462
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22237222dupT?assembly=hg19",
        "id": "chrX:g.22237222dupT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22219105dupT?assembly=hg38",
        "id": "chrX:g.22219105dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517796",
        "rs": 1057517796
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 22219105,
          "referenceAllele": "",
          "start": 22219105
        }
      ],
      "hgvs": [
        "NC_000023.11:g.22219105dup",
        "CM000685.2:g.22219105dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 22237222,
          "referenceAllele": "",
          "start": 22237222
        }
      ],
      "hgvs": [
        "NC_000023.10:g.22237222dup",
        "CM000685.1:g.22237222dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 22147143,
          "referenceAllele": "",
          "start": 22147143
        }
      ],
      "hgvs": [
        "NC_000023.9:g.22147143dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191302,
          "referenceAllele": "",
          "start": 191302
        }
      ],
      "hgvs": [
        "NG_007563.2:g.191302dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000650"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000682888.1:c.322+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508003.1:n.322+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 529,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000683162.1:c.322+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508059.1:n.322+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000683289.1:c.322+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508195.1:n.322+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000683917.1:n.552+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000684356.1:c.322+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507619.1:n.322+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1442,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1442,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000684745.1:n.1442+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2449,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 2449,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.5:c.1768+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:n.1768+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.1768+2dup"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.1768+2dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:n.1768+2dup"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:n.1768+2dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2333,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 2333,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.4:c.1768+2dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:n.1768+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 2330,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.5:c.1768+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:n.1768+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 2330,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.1:c.1768+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:n.1768+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1139,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545533.1:c.1012+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543835.1:n.1012+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1168,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545534.1:c.1012+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543836.1:n.1012+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 790,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545536.1:c.661+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543838.1:n.661+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 8365,
          "referenceAllele": "",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 8365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037703",
      "geneNCBI_id": 100873065,
      "geneSymbol": "PTCHD1-AS",
      "hgvs": [
        "NR_073010.2:n.1048+8365dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1172,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545536.2:c.661+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543838.1:n.661+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1140,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_017029579.1:c.1012+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885068.1:n.1012+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1870,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 1870,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_024452390.1:c.1477+2dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308158.1:n.1477+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 2608,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XR_001755695.1:n.2608+2dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2449,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 2449,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.6:c.1768+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:n.1768+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.1768+2dup"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.1768+2dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:n.1768+2dup"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:n.1768+2dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2449,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "",
          "start": 2449,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.2:c.1768+2dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:n.1768+2dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681890"
    }
  ],
  "type": "nucleotide"
}