{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA875964337",
  "communityStandardTitle": [
    "NM_014009.4(FOXP3):c.-23+151_-23+153dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2849183[alleleid]",
        "alleleId": 2849183,
        "preferredName": "NM_014009.4(FOXP3):c.-23+148ATA[3]"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2688146",
        "RCV": [
          "RCV003489055"
        ],
        "variationId": 2688146
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49264507_49264508insTAT?assembly=hg38",
        "id": "chrX:g.49264507_49264508insTAT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3060515",
        "rs": 3060515
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49264507-C-CTAT?dataset=gnomad_r3",
        "id": "X-49264507-C-CTAT",
        "variant": "X:49264507 C / CTAT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49264507-C-CTAT?dataset=gnomad_r4",
        "id": "X-49264507-C-CTAT",
        "variant": "X:49264507 C / CTAT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ATT",
          "end": 49264514,
          "referenceAllele": "",
          "start": 49264514
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49264512_49264514dup",
        "CM000685.2:g.49264512_49264514dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ATT",
          "end": 49120976,
          "referenceAllele": "",
          "start": 49120976
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49120974_49120976dup",
        "CM000685.1:g.49120974_49120976dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ATT",
          "end": 49007920,
          "referenceAllele": "",
          "start": 49007920
        }
      ],
      "hgvs": [
        "NC_000023.9:g.49007918_49007920dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 5319,
          "referenceAllele": "",
          "start": 5319
        }
      ],
      "hgvs": [
        "NG_007392.1:g.5317_5319dup",
        "LRG_62:g.5317_5319dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000561"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 467,
          "endIntronDirection": "+",
          "endIntronOffset": 1627,
          "referenceAllele": "",
          "start": 467,
          "startIntronDirection": "+",
          "startIntronOffset": 1627
        }
      ],
      "hgvs": [
        "ENST00000703450.1:c.-23+1625_-23+1627dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515301.1:n.-23+1625_-23+1627dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911706"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 50,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 50,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000684155.1:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507726.1:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829113"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 140,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 140,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.7:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751726"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 50,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 50,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.10:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.-23+151_-23+153dup"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.-23+151_-23+153dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:n.-23+151_-23+153dup"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:n.-23+151_-23+153dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 8,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 8,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.7:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756528"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 50,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 50,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000557224.6:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451208.1:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760192"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 467,
          "endIntronDirection": "+",
          "endIntronOffset": 1627,
          "referenceAllele": "",
          "start": 467,
          "startIntronDirection": "+",
          "startIntronOffset": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000650877.1:c.-23+1625_-23+1627dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499100.1:n.-23+1625_-23+1627dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771365"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 20,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 20,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000652559.1:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498236.1:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772276"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.6:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271055"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.8:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271057"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.6:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303198"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.1:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011319"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.3:c.-23+151_-23+153dup",
        "LRG_62t1:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032870"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_006724533.2:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724596.2:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075567"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1845,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 1845,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543915.1:c.302+151_302+153dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542217.1:n.302+151_302+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110828"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1687,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 1687,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543916.1:c.302+151_302+153dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542218.1:n.302+151_302+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110829"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543917.1:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542219.1:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110830"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1839,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 1839,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543918.1:c.302+151_302+153dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542220.1:n.302+151_302+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110831"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 1837,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 1837,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543919.1:c.302+151_302+153dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542221.1:n.302+151_302+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110832"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 91,
          "endIntronDirection": "+",
          "endIntronOffset": 23,
          "referenceAllele": "",
          "start": 91,
          "startIntronDirection": "+",
          "startIntronOffset": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_017029567.1:c.29+21_29+23dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885056.1:n.29+21_29+23dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579085"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 50,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 50,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.2:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676745"
    },
    {
      "coordinates": [
        {
          "allele": "TAA",
          "end": 50,
          "endIntronDirection": "+",
          "endIntronOffset": 153,
          "referenceAllele": "",
          "start": 50,
          "startIntronDirection": "+",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.4:c.-23+151_-23+153dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:n.-23+151_-23+153dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.-23+151_-23+153dup"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.-23+151_-23+153dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:n.-23+151_-23+153dup"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:n.-23+151_-23+153dup"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}