{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040946",
  "communityStandardTitle": [
    "NM_000128.4(F11):c.1232_1235del (p.Thr411ArgfsTer16)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357345[alleleid]",
        "alleleId": 357345,
        "preferredName": "NM_000128.4(F11):c.1232_1235del (p.Thr411fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371658",
        "RCV": [
          "RCV000411516"
        ],
        "variationId": 371658
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187205342_187205345del?assembly=hg19",
        "id": "chr4:g.187205342_187205345del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186284188_186284191del?assembly=hg38",
        "id": "chr4:g.186284188_186284191del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517446",
        "rs": 1057517446
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 186284191,
          "referenceAllele": "CTCA",
          "start": 186284187
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186284188_186284191del",
        "CM000666.2:g.186284188_186284191del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 187205345,
          "referenceAllele": "CTCA",
          "start": 187205341
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187205342_187205345del",
        "CM000666.1:g.187205342_187205345del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 187442339,
          "referenceAllele": "CTCA",
          "start": 187442335
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187442336_187442339del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23228,
          "referenceAllele": "CTCA",
          "start": 23224
        }
      ],
      "hgvs": [
        "NG_008051.1:g.23225_23228del",
        "LRG_583:g.23225_23228del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1343,
          "referenceAllele": "CTCA",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.7:c.1232_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Thr411ArgfsTer16",
        "hgvsWellDefined": "ENSP00000384957.2:p.[Thr411_Gln412del;His414_Leu415delinsAspThr;Gly417_Leu427delinsValGluAlaProSerLeuGlu;Ala429_Phe433delinsSerGly;Gly435_Ile441del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754055",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.1232_1235del"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.1232_1235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Thr411ArgfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Thr411ArgfsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1107,
          "referenceAllele": "CTCA",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264692.8:c.1070_1073del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264692.5:p.Thr357ArgfsTer16",
        "hgvsWellDefined": "ENSP00000264692.5:p.[Thr357_Gln358del;His360_Leu361delinsAspThr;Gly363_Leu373delinsValGluAlaProSerLeuGlu;Ala375_Phe379delinsSerGly;Gly381_Ile387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251562"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1587,
          "referenceAllele": "CTCA",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.6:c.1232_1235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Thr411ArgfsTer16",
        "hgvsWellDefined": "ENSP00000384957.2:p.[Thr411_Gln412del;His414_Leu415delinsAspThr;Gly417_Leu427delinsValGluAlaProSerLeuGlu;Ala429_Phe433delinsSerGly;Gly435_Ile441del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279867"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1568,
          "referenceAllele": "CTCA",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.3:c.1232_1235del",
        "LRG_583t1:c.1232_1235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Thr411ArgfsTer16",
        "hgvsWellDefined": "NP_000119.1:p.[Thr411_Gln412del;His414_Leu415delinsAspThr;Gly417_Leu427delinsValGluAlaProSerLeuGlu;Ala429_Phe433delinsSerGly;Gly435_Ile441del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006190"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1590,
          "referenceAllele": "CTCA",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.2:c.1235_1238del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Thr412ArgfsTer16",
        "hgvsWellDefined": "XP_005262878.1:p.[Thr412_Gln413del;His415_Leu416delinsAspThr;Gly418_Leu428delinsValGluAlaProSerLeuGlu;Ala430_Phe434delinsSerGly;Gly436_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063580"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1590,
          "referenceAllele": "CTCA",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.2:c.1235_1238del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Thr412ArgfsTer16",
        "hgvsWellDefined": "XP_005262879.1:p.[Thr412_Gln413del;His415_Leu416delinsAspThr;Gly418_Leu428delinsValGluAlaProSerLeuGlu;Ala430_Phe434delinsSerGly;Gly436_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1320,
          "referenceAllele": "CTCA",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.2:c.965_968del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Thr322ArgfsTer16",
        "hgvsWellDefined": "XP_005262880.1:p.[Thr322_Gln323del;His325_Leu326delinsAspThr;Gly328_Leu338delinsValGluAlaProSerLeuGlu;Ala340_Phe344delinsSerGly;Gly346_Ile352del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063582"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1590,
          "referenceAllele": "CTCA",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262824.1:c.1235_1238del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262881.1:p.Thr412ArgfsTer16",
        "hgvsWellDefined": "XP_005262881.1:p.[Thr412_Gln413del;His415_Leu416delinsAspThr;Gly418_Leu428delinsValGluAlaProSerLeuGlu;Ala430_Phe434delinsSerGly;Gly436_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1542,
          "referenceAllele": "CTCA",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.1:c.1187_1190del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Thr396ArgfsTer16",
        "hgvsWellDefined": "XP_006714200.1:p.[Thr396_Gln397del;His399_Leu400delinsAspThr;Gly402_Leu412delinsValGluAlaProSerLeuGlu;Ala414_Phe418delinsSerGly;Gly420_Ile426del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070515"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1643,
          "referenceAllele": "CTCA",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938706.1:n.1640_1643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133404"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1643,
          "referenceAllele": "CTCA",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938707.1:n.1640_1643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133405"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1571,
          "referenceAllele": "CTCA",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.4:c.1235_1238del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Thr412ArgfsTer16",
        "hgvsWellDefined": "XP_005262878.1:p.[Thr412_Gln413del;His415_Leu416delinsAspThr;Gly418_Leu428delinsValGluAlaProSerLeuGlu;Ala430_Phe434delinsSerGly;Gly436_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1571,
          "referenceAllele": "CTCA",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.4:c.1235_1238del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Thr412ArgfsTer16",
        "hgvsWellDefined": "XP_005262879.1:p.[Thr412_Gln413del;His415_Leu416delinsAspThr;Gly418_Leu428delinsValGluAlaProSerLeuGlu;Ala430_Phe434delinsSerGly;Gly436_Ile442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1301,
          "referenceAllele": "CTCA",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.4:c.965_968del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Thr322ArgfsTer16",
        "hgvsWellDefined": "XP_005262880.1:p.[Thr322_Gln323del;His325_Leu326delinsAspThr;Gly328_Leu338delinsValGluAlaProSerLeuGlu;Ala340_Phe344delinsSerGly;Gly346_Ile352del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535556"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1523,
          "referenceAllele": "CTCA",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.3:c.1187_1190del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Thr396ArgfsTer16",
        "hgvsWellDefined": "XP_006714200.1:p.[Thr396_Gln397del;His399_Leu400delinsAspThr;Gly402_Leu412delinsValGluAlaProSerLeuGlu;Ala414_Phe418delinsSerGly;Gly420_Ile426del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538666"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1709,
          "referenceAllele": "CTCA",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_001741172.2:n.1706_1709del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1343,
          "referenceAllele": "CTCA",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.4:c.1232_1235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Thr411ArgfsTer16",
        "hgvsWellDefined": "NP_000119.1:p.[Thr411_Gln412del;His414_Leu415delinsAspThr;Gly417_Leu427delinsValGluAlaProSerLeuGlu;Ala429_Phe433delinsSerGly;Gly435_Ile441del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.1232_1235del"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.1232_1235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Thr411ArgfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Thr411ArgfsTer16"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}