{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645603172",
  "communityStandardTitle": [
    "NM_001654.5(ARAF):c.641_642delinsGT (p.Ser214Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6187400",
        "active": true,
        "id": "COSM6187400"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "GT",
          "end": 47566723,
          "referenceAllele": "CC",
          "start": 47566721
        }
      ],
      "hgvs": [
        "NC_000023.11:g.47566722_47566723delinsGT",
        "CM000685.2:g.47566722_47566723delinsGT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "GT",
          "end": 47426122,
          "referenceAllele": "CC",
          "start": 47426120
        }
      ],
      "hgvs": [
        "NC_000023.10:g.47426121_47426122delinsGT",
        "CM000685.1:g.47426121_47426122delinsGT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "GT",
          "end": 47311066,
          "referenceAllele": "CC",
          "start": 47311064
        }
      ],
      "hgvs": [
        "NC_000023.9:g.47311065_47311066delinsGT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 10607,
          "referenceAllele": "CC",
          "start": 10605
        }
      ],
      "hgvs": [
        "NG_016339.1:g.10606_10607delinsGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003106"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 10607,
          "referenceAllele": "CC",
          "start": 10605
        }
      ],
      "hgvs": [
        "NG_016339.2:g.10606_10607delinsGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673673"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 748,
          "referenceAllele": "CC",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "ENST00000377045.9:c.641_642delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366244.4:p.Ser214Cys",
        "hgvsWellDefined": "ENSP00000366244.4:p.Ser214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377045.9:c.641_642delinsGT"
          },
          "RefSeq": {
            "hgvs": "NM_001654.5:c.641_642delinsGT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366244.4:p.Ser214Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001645.1:p.Ser214Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 862,
          "referenceAllele": "CC",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "ENST00000290277.10:c.650_651delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290277.7:p.Ser217Cys",
        "hgvsWellDefined": "ENSP00000290277.7:p.Ser217Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253634"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 836,
          "referenceAllele": "CC",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "ENST00000377045.8:c.641_642delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366244.4:p.Ser214Cys",
        "hgvsWellDefined": "ENSP00000366244.4:p.Ser214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008753",
      "coordinates": [
        {
          "allele": "GT",
          "end": 862,
          "referenceAllele": "CC",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "NM_001256196.1:c.650_651delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243125.1:p.Ser217Cys",
        "hgvsWellDefined": "NP_001243125.1:p.Ser217Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645383491",
      "coordinates": [
        {
          "allele": "GT",
          "end": 853,
          "referenceAllele": "CC",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "NM_001654.4:c.641_642delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001645.1:p.Ser214Cys",
        "hgvsWellDefined": "NP_001645.1:p.Ser214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026993"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 789,
          "referenceAllele": "CC",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_006724529.1:c.656_657delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724592.1:p.Ser219Cys",
        "hgvsWellDefined": "XP_006724592.1:p.Ser219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075565"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 991,
          "referenceAllele": "CC",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_011543906.1:c.656_657delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542208.1:p.Ser219Cys",
        "hgvsWellDefined": "XP_011542208.1:p.Ser219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110819"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 844,
          "referenceAllele": "CC",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_011543907.1:c.656_657delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542209.1:p.Ser219Cys",
        "hgvsWellDefined": "XP_011542209.1:p.Ser219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110820"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 975,
          "referenceAllele": "CC",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_011543908.1:c.641_642delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542210.1:p.Ser214Cys",
        "hgvsWellDefined": "XP_011542210.1:p.Ser214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110821"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 154,
          "referenceAllele": "CC",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_011543909.1:c.-17_-16delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542211.1:n.-17_-16delinsGT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110822"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 773,
          "referenceAllele": "CC",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_006724529.3:c.656_657delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724592.1:p.Ser219Cys",
        "hgvsWellDefined": "XP_006724592.1:p.Ser219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540998"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 2180,
          "referenceAllele": "CC",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_011543906.3:c.656_657delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542208.1:p.Ser219Cys",
        "hgvsWellDefined": "XP_011542208.1:p.Ser219Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555420"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 2164,
          "referenceAllele": "CC",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_011543908.3:c.641_642delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542210.1:p.Ser214Cys",
        "hgvsWellDefined": "XP_011542210.1:p.Ser214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555421"
    },
    {
      "coordinates": [
        {
          "allele": "GT",
          "end": 156,
          "referenceAllele": "CC",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "XM_011543909.3:c.-17_-16delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542211.1:n.-17_-16delinsGT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645383491",
      "coordinates": [
        {
          "allele": "GT",
          "end": 748,
          "referenceAllele": "CC",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "NM_001654.5:c.641_642delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001645.1:p.Ser214Cys",
        "hgvsWellDefined": "NP_001645.1:p.Ser214Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665091",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377045.9:c.641_642delinsGT"
          },
          "RefSeq": {
            "hgvs": "NM_001654.5:c.641_642delinsGT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366244.4:p.Ser214Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001645.1:p.Ser214Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008753",
      "coordinates": [
        {
          "allele": "GT",
          "end": 757,
          "referenceAllele": "CC",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000646",
      "geneNCBI_id": 369,
      "geneSymbol": "ARAF",
      "hgvs": [
        "NM_001256196.2:c.650_651delinsGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243125.1:p.Ser217Cys",
        "hgvsWellDefined": "NP_001243125.1:p.Ser217Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714728"
    }
  ],
  "type": "nucleotide"
}