{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1736047853",
  "communityStandardTitle": [
    "NM_014491.4(FOXP2):c.1658G= (p.Arg553=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908377",
        "rs": 121908377
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 114662075,
          "referenceAllele": "G",
          "start": 114662074
        }
      ],
      "hgvs": [
        "NC_000007.14:g.114662075G=",
        "CM000669.2:g.114662075G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 114302130,
          "referenceAllele": "G",
          "start": 114302129
        }
      ],
      "hgvs": [
        "NC_000007.13:g.114302130G=",
        "CM000669.1:g.114302130G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 114089366,
          "referenceAllele": "G",
          "start": 114089365
        }
      ],
      "hgvs": [
        "NC_000007.12:g.114089366G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580766,
          "referenceAllele": "G",
          "start": 580765
        }
      ],
      "hgvs": [
        "NG_007491.2:g.580766G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580766,
          "referenceAllele": "G",
          "start": 580765
        }
      ],
      "hgvs": [
        "NG_007491.3:g.580766G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616077"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000403559.9:c.1709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385069.4:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2016,
          "referenceAllele": "G",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703612.1:c.1649G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515396.1:p.Arg550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703613.1:c.1709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515397.1:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2012,
          "referenceAllele": "G",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703614.1:c.1658G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515398.1:p.Arg553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2218,
          "referenceAllele": "G",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703616.1:c.1784G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515400.1:p.Arg595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703617.1:c.1103G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515401.1:p.Arg368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "G",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000703618.1:c.555G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000350908.9:c.1658G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265436.7:p.Arg553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350908.9:c.1658G="
          },
          "RefSeq": {
            "hgvs": "NM_014491.4:c.1658G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265436.7:p.Arg553="
          },
          "RefSeq": {
            "hgvs": "NP_055306.1:p.Arg553="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393489.8:c.*1452G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377129.4:n.*1452G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000350908.8:c.1658G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265436.7:p.Arg553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393489.7:c.1382G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377129.3:p.Arg461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1753,
          "referenceAllele": "G",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393491.7:c.1103G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377130.3:p.Arg368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1937,
          "referenceAllele": "G",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393494.6:c.1658G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377132.2:p.Arg553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000393498.6:c.1595G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377135.2:p.Arg532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275661"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2083,
          "referenceAllele": "G",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000403559.8:c.1709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385069.4:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000408937.7:c.1733G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386200.3:p.Arg578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2026,
          "referenceAllele": "G",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000412402.5:c.*1376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405470.1:n.*1376G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282590"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2408,
          "referenceAllele": "G",
          "start": 2407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000441290.6:c.*1658G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416825.1:n.*1658G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1756,
          "referenceAllele": "G",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634411.1:c.1607G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489135.1:p.Arg536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634623.1:c.1598G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488944.1:p.Arg533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000634664.1:n.133G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1820,
          "referenceAllele": "G",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635109.1:c.*1455G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489457.1:n.*1455G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635534.1:c.1649G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489229.1:p.Arg550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "ENST00000635638.1:c.1661G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489073.1:p.Arg554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2029,
          "referenceAllele": "G",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_001172766.2:c.1655G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166237.1:p.Arg552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_014491.3:c.1658G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055306.1:p.Arg553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461764",
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148898.3:c.1733G="
      ],
      "proteinEffect": {
        "hgvs": "NP_683696.2:p.Arg578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2083,
          "referenceAllele": "G",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148900.3:c.1709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_683698.2:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2043,
          "referenceAllele": "G",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033766.1:n.2043G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2090,
          "referenceAllele": "G",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033767.1:n.2090G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2446,
          "referenceAllele": "G",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "XM_011516706.1:c.1802G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515008.1:p.Arg601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2713,
          "referenceAllele": "G",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "XM_017012801.2:c.1733G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868290.1:p.Arg578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_014491.4:c.1658G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055306.1:p.Arg553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668367",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000350908.9:c.1658G="
          },
          "RefSeq": {
            "hgvs": "NM_014491.4:c.1658G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265436.7:p.Arg553="
          },
          "RefSeq": {
            "hgvs": "NP_055306.1:p.Arg553="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "referenceAllele": "G",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_001172766.3:c.1655G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166237.1:p.Arg552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461764",
      "coordinates": [
        {
          "allele": "G",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148898.4:c.1733G="
      ],
      "proteinEffect": {
        "hgvs": "NP_683696.2:p.Arg578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2026,
          "referenceAllele": "G",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033766.2:n.2026G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NR_033767.2:n.2272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2265,
          "referenceAllele": "G",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013875",
      "geneNCBI_id": 93986,
      "geneSymbol": "FOXP2",
      "hgvs": [
        "NM_148900.4:c.1709G="
      ],
      "proteinEffect": {
        "hgvs": "NP_683698.2:p.Arg570="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729341"
    }
  ],
  "type": "nucleotide"
}