{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043308",
  "communityStandardTitle": [
    "NM_000444.6(PHEX):c.1046dup (p.Asp349GlufsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360679[alleleid]",
        "alleleId": 360679,
        "preferredName": "NM_000444.6(PHEX):c.1046dup (p.Asp349fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372456",
        "RCV": [
          "RCV000414311"
        ],
        "variationId": 372456
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22117236dupA?assembly=hg19",
        "id": "chrX:g.22117236dupA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22099118dupA?assembly=hg38",
        "id": "chrX:g.22099118dupA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517792",
        "rs": 1057517792
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 22099118,
          "referenceAllele": "",
          "start": 22099118
        }
      ],
      "hgvs": [
        "NC_000023.11:g.22099118dup",
        "CM000685.2:g.22099118dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 22117236,
          "referenceAllele": "",
          "start": 22117236
        }
      ],
      "hgvs": [
        "NC_000023.10:g.22117236dup",
        "CM000685.1:g.22117236dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 22027157,
          "referenceAllele": "",
          "start": 22027157
        }
      ],
      "hgvs": [
        "NC_000023.9:g.22027157dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71316,
          "referenceAllele": "",
          "start": 71316
        }
      ],
      "hgvs": [
        "NG_007563.2:g.71316dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000650"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000475778.2:n.1472dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000684143.1:c.1043dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508264.1:p.Asp348GlufsTer4",
        "hgvsWellDefined": "ENSP00000508264.1:p.[Asp348_Leu349delinsGlu;Arg351_Leu365del;Trp367_Leu377del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000684745.1:n.720dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.5:c.1046dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:p.Asp349GlufsTer4",
        "hgvsWellDefined": "ENSP00000368682.4:p.[Asp349_Leu350delinsGlu;Arg352_Leu366del;Trp368_Leu378del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.1046dup"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.1046dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Asp349GlufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Asp349GlufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.4:c.1046dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:p.Asp349GlufsTer4",
        "hgvsWellDefined": "ENSP00000368682.4:p.[Asp349_Leu350delinsGlu;Arg352_Leu366del;Trp368_Leu378del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000475778.1:n.319dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.5:c.1046dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Asp349GlufsTer4",
        "hgvsWellDefined": "NP_000435.3:p.[Asp349_Leu350delinsGlu;Arg352_Leu366del;Trp368_Leu378del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.1:c.1046dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Asp349GlufsTer4",
        "hgvsWellDefined": "NP_001269683.1:p.[Asp349_Leu350delinsGlu;Arg352_Leu366del;Trp368_Leu378del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545533.1:c.290dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543835.1:p.Asp97GlufsTer4",
        "hgvsWellDefined": "XP_011543835.1:p.[Asp97_Leu98delinsGlu;Arg100_Leu114del;Trp116_Leu126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545534.1:c.290dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543836.1:p.Asp97GlufsTer4",
        "hgvsWellDefined": "XP_011543836.1:p.[Asp97_Leu98delinsGlu;Arg100_Leu114del;Trp116_Leu126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545535.1:c.1046dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543837.1:p.Asp349GlufsTer4",
        "hgvsWellDefined": "XP_011543837.1:p.[Asp349_Leu350delinsGlu;Arg352_Leu366del;Trp368_Leu378del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_017029579.1:c.290dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885068.1:p.Asp97GlufsTer4",
        "hgvsWellDefined": "XP_016885068.1:p.[Asp97_Leu98delinsGlu;Arg100_Leu114del;Trp116_Leu126del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_024452390.1:c.755dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308158.1:p.Asp252GlufsTer4",
        "hgvsWellDefined": "XP_024308158.1:p.[Asp252_Leu253delinsGlu;Arg255_Leu269del;Trp271_Leu281del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XR_001755695.1:n.1725dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.6:c.1046dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Asp349GlufsTer4",
        "hgvsWellDefined": "NP_000435.3:p.[Asp349_Leu350delinsGlu;Arg352_Leu366del;Trp368_Leu378del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.1046dup"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.1046dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Asp349GlufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Asp349GlufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.2:c.1046dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Asp349GlufsTer4",
        "hgvsWellDefined": "NP_001269683.1:p.[Asp349_Leu350delinsGlu;Arg352_Leu366del;Trp368_Leu378del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681890"
    }
  ],
  "type": "nucleotide"
}