{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1736048465",
  "communityStandardTitle": [
    "NM_014491.4(FOXP2):c.1789A= (p.Asn597=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766476648",
        "rs": 766476648
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 114663469,
          "referenceAllele": "A",
          "start": 114663468
        }
      ],
      "hgvs": [
        "NC_000007.14:g.114663469A=",
        "CM000669.2:g.114663469A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 114303524,
          "referenceAllele": "A",
          "start": 114303523
        }
      ],
      "hgvs": [
        "NC_000007.13:g.114303524A=",
        "CM000669.1:g.114303524A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 114090760,
          "referenceAllele": "A",
          "start": 114090759
        }
      ],
      "hgvs": [
        "NC_000007.12:g.114090760A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582160,
          "referenceAllele": "A",
          "start": 582159
        }
      ],
      "hgvs": [
        "NG_007491.2:g.582160A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582160,
          "referenceAllele": "A",
          "start": 582159
        }
      ],
      "hgvs": [
        "NG_007491.3:g.582160A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616077"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2094,
          "referenceAllele": "A",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000403559.9:c.1840A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385069.4:p.Asn614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2147,
          "referenceAllele": "A",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703612.1:c.1780A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515396.1:p.Asn594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2312,
          "referenceAllele": "A",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703613.1:c.1840A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515397.1:p.Asn614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2143,
          "referenceAllele": "A",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703614.1:c.1789A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515398.1:p.Asn597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2349,
          "referenceAllele": "A",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703616.1:c.1915A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515400.1:p.Asn639="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703617.1:c.1234A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515401.1:p.Asn412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703618.1:c.686A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "referenceAllele": "A",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000350908.9:c.1789A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265436.7:p.Asn597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350908.9:c.1789A="
          },
          "RefSeq": {
            "hgvs": "NM_014491.4:c.1789A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265436.7:p.Asn597="
          },
          "RefSeq": {
            "hgvs": "NP_055306.1:p.Asn597="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1895,
          "referenceAllele": "A",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393489.8:c.*1583A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377129.4:n.*1583A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000350908.8:c.1789A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265436.7:p.Asn597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1895,
          "referenceAllele": "A",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393489.7:c.1513A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377129.3:p.Asn505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1884,
          "referenceAllele": "A",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393491.7:c.1234A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377130.3:p.Asn412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2068,
          "referenceAllele": "A",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393494.6:c.1789A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377132.2:p.Asn597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2039,
          "referenceAllele": "A",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393498.6:c.1726A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377135.2:p.Asn576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "A",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000403559.8:c.1840A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385069.4:p.Asn614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2238,
          "referenceAllele": "A",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000408937.7:c.1864A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386200.3:p.Asn622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2157,
          "referenceAllele": "A",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000412402.5:c.*1507A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405470.1:n.*1507A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2539,
          "referenceAllele": "A",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000441290.6:c.*1789A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416825.1:n.*1789A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634411.1:c.1738A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489135.1:p.Asn580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "A",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634623.1:c.1729A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488944.1:p.Asn577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 264,
          "referenceAllele": "A",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634664.1:n.264A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "referenceAllele": "A",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635109.1:c.*1586A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489457.1:n.*1586A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "referenceAllele": "A",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635534.1:c.1780A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489229.1:p.Asn594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2130,
          "referenceAllele": "A",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635638.1:c.1792A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489073.1:p.Asn598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2160,
          "referenceAllele": "A",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_001172766.2:c.1786A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166237.1:p.Asn596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2163,
          "referenceAllele": "A",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_014491.3:c.1789A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055306.1:p.Asn597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073747858",
      "coordinates": [
        {
          "allele": "A",
          "end": 2238,
          "referenceAllele": "A",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148898.3:c.1864A="
      ],
      "proteinEffect": {
        "hgvs": "NP_683696.2:p.Asn622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "A",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148900.3:c.1840A="
      ],
      "proteinEffect": {
        "hgvs": "NP_683698.2:p.Asn614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2174,
          "referenceAllele": "A",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033766.1:n.2174A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "A",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033767.1:n.2221A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2577,
          "referenceAllele": "A",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "XM_011516706.1:c.1933A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515008.1:p.Asn645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2844,
          "referenceAllele": "A",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "XM_017012801.2:c.1864A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868290.1:p.Asn622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "referenceAllele": "A",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_014491.4:c.1789A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055306.1:p.Asn597="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668367",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350908.9:c.1789A="
          },
          "RefSeq": {
            "hgvs": "NM_014491.4:c.1789A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265436.7:p.Asn597="
          },
          "RefSeq": {
            "hgvs": "NP_055306.1:p.Asn597="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_001172766.3:c.1786A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166237.1:p.Asn596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073747858",
      "coordinates": [
        {
          "allele": "A",
          "end": 2420,
          "referenceAllele": "A",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148898.4:c.1864A="
      ],
      "proteinEffect": {
        "hgvs": "NP_683696.2:p.Asn622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2157,
          "referenceAllele": "A",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033766.2:n.2157A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2403,
          "referenceAllele": "A",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033767.2:n.2403A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2396,
          "referenceAllele": "A",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148900.4:c.1840A="
      ],
      "proteinEffect": {
        "hgvs": "NP_683698.2:p.Asn614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729341"
    }
  ],
  "type": "nucleotide"
}