{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA193385392",
  "communityStandardTitle": [
    "NM_000144.5(FXN):c.381_384del (p.Phe127LeufsTer5)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.71668173_71668176del?assembly=hg19",
        "id": "chr9:g.71668173_71668176del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.69053257_69053260del?assembly=hg38",
        "id": "chr9:g.69053257_69053260del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151206121",
        "rs": 151206121
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 69053260,
          "referenceAllele": "TGGG",
          "start": 69053256
        }
      ],
      "hgvs": [
        "NC_000009.12:g.69053257_69053260del",
        "CM000671.2:g.69053257_69053260del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 71668176,
          "referenceAllele": "TGGG",
          "start": 71668172
        }
      ],
      "hgvs": [
        "NC_000009.11:g.71668173_71668176del",
        "CM000671.1:g.71668173_71668176del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 70857996,
          "referenceAllele": "TGGG",
          "start": 70857992
        }
      ],
      "hgvs": [
        "NC_000009.10:g.70857993_70857996del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22698,
          "referenceAllele": "TGGG",
          "start": 22694
        }
      ],
      "hgvs": [
        "NG_008845.2:g.22695_22698del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001240"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 475,
          "referenceAllele": "TGGG",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000377270.8:c.156_159del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366482.4:p.Phe52LeufsTer5",
        "hgvsWellDefined": "ENSP00000366482.4:p.[Phe52_Val56del;Thr58del;Lys60_Tyr68del;Ile70_Ser82del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "TGGG",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000484259.3:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419243.2:p.Phe127LeufsTer5",
        "hgvsWellDefined": "ENSP00000419243.2:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757462",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000484259.3:c.381_384del"
          },
          "RefSeq": {
            "hgvs": "NM_000144.5:c.381_384del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419243.2:p.Phe127LeufsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000135.2:p.Phe127LeufsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 420,
          "referenceAllele": "TGGG",
          "start": 416
        }
      ],
      "hgvs": [
        "ENST00000642330.1:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493770.1:p.Phe127LeufsTer12",
        "hgvsWellDefined": "ENSP00000493770.1:p.[Phe127_Ser138del;Arg140_Ala146del;Gln148del;Gly150_Val152delinsTrpLeu;Asp154_Phe158delinsTrpLeuPheHisPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766682"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 17313,
          "referenceAllele": "TGGG",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 17309
        }
      ],
      "hgvs": [
        "ENST00000642889.1:c.165+17310_165+17313del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493780.1:n.165+17310_165+17313del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766972"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 417,
          "referenceAllele": "TGGG",
          "start": 413
        }
      ],
      "hgvs": [
        "ENST00000643352.1:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496488.1:p.Phe127LeufsTer5",
        "hgvsWellDefined": "ENSP00000496488.1:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767235"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 382,
          "referenceAllele": "TGGG",
          "start": 378
        }
      ],
      "hgvs": [
        "ENST00000643765.1:c.379_382del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767457"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 295,
          "endIntronDirection": "+",
          "endIntronOffset": 6778,
          "referenceAllele": "TGGG",
          "start": 295,
          "startIntronDirection": "+",
          "startIntronOffset": 6774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000644653.1:c.263+6775_263+6778del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495217.1:n.263+6775_263+6778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767923"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 288,
          "referenceAllele": "TGGG",
          "start": 284
        }
      ],
      "hgvs": [
        "ENST00000644977.1:c.*106_*109del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495651.1:n.*106_*109del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768103"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 6778,
          "referenceAllele": "TGGG",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 6774
        }
      ],
      "hgvs": [
        "ENST00000645088.1:c.263+6775_263+6778del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495447.1:n.263+6775_263+6778del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768165"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 398,
          "referenceAllele": "TGGG",
          "start": 394
        }
      ],
      "hgvs": [
        "ENST00000646862.1:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494599.1:p.Phe127LeufsTer12",
        "hgvsWellDefined": "ENSP00000494599.1:p.[Phe127_Ser138del;Arg140_Ala146del;Gln148del;Gly150_Val152delinsTrpLeu;Asp154_Phe158delinsTrpLeuPheHisPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769105"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 908,
          "referenceAllele": "TGGG",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000377270.7:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366482.3:p.Phe127LeufsTer5",
        "hgvsWellDefined": "ENSP00000366482.3:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271536"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 604,
          "referenceAllele": "TGGG",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000396364.7:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379650.3:p.Phe127LeufsTer5",
        "hgvsWellDefined": "ENSP00000379650.3:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277235"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 405,
          "referenceAllele": "TGGG",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000396366.6:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379652.2:p.Phe127LeufsTer5",
        "hgvsWellDefined": "ENSP00000379652.2:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277237"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 76,
          "endIntronDirection": "+",
          "endIntronOffset": 6778,
          "referenceAllele": "TGGG",
          "start": 76,
          "startIntronDirection": "+",
          "startIntronOffset": 6774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000484259.1:c.76+6775_76+6778del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323549"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 264,
          "referenceAllele": "TGGG",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "ENST00000498653.5:c.156_159del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418015.1:p.Phe52LeufsTer5",
        "hgvsWellDefined": "ENSP00000418015.1:p.[Phe52_Val56del;Thr58del;Lys60_Tyr68del;Ile70_Ser82del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334614"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 604,
          "referenceAllele": "TGGG",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_000144.4:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000135.2:p.Phe127LeufsTer5",
        "hgvsWellDefined": "NP_000135.2:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 604,
          "referenceAllele": "TGGG",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_001161706.1:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155178.1:p.Phe127LeufsTer5",
        "hgvsWellDefined": "NP_001155178.1:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014292"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 604,
          "referenceAllele": "TGGG",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_181425.2:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "NP_852090.1:p.Phe127LeufsTer5",
        "hgvsWellDefined": "NP_852090.1:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043699"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "TGGG",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_000144.5:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000135.2:p.Phe127LeufsTer5",
        "hgvsWellDefined": "NP_000135.2:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000484259.3:c.381_384del"
          },
          "RefSeq": {
            "hgvs": "NM_000144.5:c.381_384del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419243.2:p.Phe127LeufsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_000135.2:p.Phe127LeufsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 415,
          "referenceAllele": "TGGG",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003951",
      "geneNCBI_id": 2395,
      "geneSymbol": "FXN",
      "hgvs": [
        "NM_181425.3:c.381_384del"
      ],
      "proteinEffect": {
        "hgvs": "NP_852090.1:p.Phe127LeufsTer5",
        "hgvsWellDefined": "NP_852090.1:p.[Phe127_Val131del;Thr133del;Lys135_Tyr143del;Ile145_Ser157del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700941"
    }
  ],
  "type": "nucleotide"
}