{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA870681813",
  "communityStandardTitle": [
    "NM_080632.3(UPF3B):c.263+15_263+18dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1642229[alleleid]",
        "alleleId": 1642229,
        "preferredName": "NM_080632.3(UPF3B):c.263+15_263+18dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1590336",
        "RCV": [
          "RCV002101462"
        ],
        "variationId": 1590336
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.118985711_118985712insTTTT?assembly=hg19",
        "id": "chrX:g.118985711_118985712insTTTT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.119851748_119851749insTTTT?assembly=hg38",
        "id": "chrX:g.119851748_119851749insTTTT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55712755",
        "rs": 55712755
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-119851748-C-CTTTT?dataset=gnomad_r3",
        "id": "X-119851748-C-CTTTT",
        "variant": "X:119851748 C / CTTTT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-119851748-C-CTTTT?dataset=gnomad_r4",
        "id": "X-119851748-C-CTTTT",
        "variant": "X:119851748 C / CTTTT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TTTT",
          "end": 119851764,
          "referenceAllele": "",
          "start": 119851764
        }
      ],
      "hgvs": [
        "NC_000023.11:g.119851761_119851764dup",
        "CM000685.2:g.119851761_119851764dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TTTT",
          "end": 118985727,
          "referenceAllele": "",
          "start": 118985727
        }
      ],
      "hgvs": [
        "NC_000023.10:g.118985724_118985727dup",
        "CM000685.1:g.118985724_118985727dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "TTTT",
          "end": 118869755,
          "referenceAllele": "",
          "start": 118869755
        }
      ],
      "hgvs": [
        "NC_000023.9:g.118869752_118869755dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 6257,
          "referenceAllele": "",
          "start": 6257
        }
      ],
      "hgvs": [
        "NG_009241.1:g.6254_6257dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001511"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 298,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 298,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "ENST00000276201.7:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276201.3:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276201.7:c.263+15_263+18dup"
          },
          "RefSeq": {
            "hgvs": "NM_080632.3:c.263+15_263+18dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276201.3:n.263+15_263+18dup"
          },
          "RefSeq": {
            "hgvs": "NP_542199.1:n.263+15_263+18dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "ENST00000276201.6:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276201.2:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252668"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "ENST00000345865.6:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245418.2:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262208"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "ENST00000619445.1:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481698.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404385"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "NM_023010.3:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075386.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037535"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "NM_080632.2:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_542199.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040209"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_005262458.3:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262515.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063470"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_006724780.2:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724843.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075708"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_006724781.2:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724844.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075709"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_011531378.1:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529680.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098414"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_011531379.1:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529681.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098415"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_017029737.1:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885226.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579232"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_017029738.1:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885227.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579233"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_017029739.1:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885228.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579234"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "XM_017029740.1:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885229.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579235"
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 298,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 298,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "NM_080632.3:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_542199.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699527",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000276201.7:c.263+15_263+18dup"
          },
          "RefSeq": {
            "hgvs": "NM_080632.3:c.263+15_263+18dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000276201.3:n.263+15_263+18dup"
          },
          "RefSeq": {
            "hgvs": "NP_542199.1:n.263+15_263+18dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AAAA",
          "end": 298,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "",
          "start": 298,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020439",
      "geneNCBI_id": 65109,
      "geneSymbol": "UPF3B",
      "hgvs": [
        "NM_023010.4:c.263+15_263+18dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_075386.1:n.263+15_263+18dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728615"
    }
  ],
  "type": "nucleotide"
}