{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2129438110",
  "communityStandardTitle": [
    "NM_001079668.3(NKX2-1):c.713G= (p.Trp238=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28936672",
        "rs": 28936672
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 36517771,
          "referenceAllele": "C",
          "start": 36517770
        }
      ],
      "hgvs": [
        "NC_000014.9:g.36517771C=",
        "CM000676.2:g.36517771C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 36986976,
          "referenceAllele": "C",
          "start": 36986975
        }
      ],
      "hgvs": [
        "NC_000014.8:g.36986976C=",
        "CM000676.1:g.36986976C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 36056727,
          "referenceAllele": "C",
          "start": 36056726
        }
      ],
      "hgvs": [
        "NC_000014.7:g.36056727C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7455,
          "referenceAllele": "G",
          "start": 7454
        }
      ],
      "hgvs": [
        "NG_013365.1:g.7455G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002816"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "ENST00000522719.4:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429519.4:p.Trp208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "ENST00000354822.7:c.713G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346879.6:p.Trp238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354822.7:c.713G="
          },
          "RefSeq": {
            "hgvs": "NM_001079668.3:c.713G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346879.6:p.Trp238="
          },
          "RefSeq": {
            "hgvs": "NP_001073136.1:p.Trp238="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 1697,
          "referenceAllele": "G",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 1696
        }
      ],
      "hgvs": [
        "ENST00000521945.1:n.54+1697G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "ENST00000522719.3:c.*750G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429519.3:n.*750G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 979,
          "endIntronDirection": "+",
          "endIntronOffset": 1214,
          "referenceAllele": "G",
          "start": 979,
          "startIntronDirection": "+",
          "startIntronOffset": 1213
        }
      ],
      "hgvs": [
        "ENST00000546983.2:c.373+1214G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449302.2:n.373+1214G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "ENST00000354822.6:c.713G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346879.5:p.Trp238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "ENST00000498187.6:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429607.2:p.Trp208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1229,
          "referenceAllele": "G",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "ENST00000518149.5:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428341.1:p.Trp208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "ENST00000522719.2:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429519.2:p.Trp208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "NM_001079668.2:c.713G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073136.1:p.Trp238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010078"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081102525",
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "NM_003317.3:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003308.1:p.Trp208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 1697,
          "referenceAllele": "G",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018387",
      "geneNCBI_id": 253970,
      "geneSymbol": "SFTA3",
      "hgvs": [
        "NM_001352986.1:c.-283+1697G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339915.1:n.-283+1697G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 1697,
          "referenceAllele": "G",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018387",
      "geneNCBI_id": 253970,
      "geneSymbol": "SFTA3",
      "hgvs": [
        "NM_001352987.1:c.-237+1697G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339916.1:n.-237+1697G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "NM_001079668.3:c.713G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073136.1:p.Trp238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354822.7:c.713G="
          },
          "RefSeq": {
            "hgvs": "NM_001079668.3:c.713G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346879.6:p.Trp238="
          },
          "RefSeq": {
            "hgvs": "NP_001073136.1:p.Trp238="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081102525",
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "G",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "NM_003317.4:c.623G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003308.1:p.Trp208="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 1697,
          "referenceAllele": "G",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018387",
      "geneNCBI_id": 253970,
      "geneSymbol": "SFTA3",
      "hgvs": [
        "NR_161364.1:n.89+1697G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 1697,
          "referenceAllele": "G",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018387",
      "geneNCBI_id": 253970,
      "geneSymbol": "SFTA3",
      "hgvs": [
        "NR_161365.1:n.89+1697G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705327"
    }
  ],
  "type": "nucleotide"
}