{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040941",
  "communityStandardTitle": [
    "NM_000128.4(F11):c.291del (p.Tyr98IlefsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357340[alleleid]",
        "alleleId": 357340,
        "preferredName": "NM_000128.4(F11):c.291del (p.Tyr98fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371284",
        "RCV": [
          "RCV000409581"
        ],
        "variationId": 371284
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187194297del?assembly=hg19",
        "id": "chr4:g.187194297del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186273143del?assembly=hg38",
        "id": "chr4:g.186273143del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517151",
        "rs": 1057517151
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 186273143,
          "referenceAllele": "G",
          "start": 186273142
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186273143del",
        "CM000666.2:g.186273143del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 187194297,
          "referenceAllele": "G",
          "start": 187194296
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187194297del",
        "CM000666.1:g.187194297del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 187431291,
          "referenceAllele": "G",
          "start": 187431290
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187431291del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 12180,
          "referenceAllele": "G",
          "start": 12179
        }
      ],
      "hgvs": [
        "NG_008051.1:g.12180del",
        "LRG_583:g.12180del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.7:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "ENSP00000384957.2:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754055",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.291del"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.291del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Tyr98IlefsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Tyr98IlefsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264692.8:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264692.5:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "ENSP00000264692.5:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ile110_Lys114delinsAla;Gln117_Thr125del;Leu127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251562"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.6:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "ENSP00000384957.2:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279867"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000492972.6:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424479.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "ENSP00000424479.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330232"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000514715.1:n.163del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.3:c.291del",
        "LRG_583t1:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "NP_000119.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006190"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.2:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_005262878.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063580"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.2:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_005262879.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063581"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.2:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_005262880.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063582"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262824.1:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262881.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_005262881.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.1:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_006714200.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070515"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938706.1:n.643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133404"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938707.1:n.643del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133405"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_001354804.1:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341733.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "NP_001341733.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522693"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.4:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_005262878.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.4:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_005262879.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.4:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_005262880.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535556"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.3:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_006714200.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538666"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007884.2:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863373.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_016863373.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562523"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007885.2:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863374.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_016863374.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007886.2:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863375.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "XP_016863375.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562525"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_001741172.2:n.624del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.4:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "NP_000119.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.291del"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.291del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Tyr98IlefsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Tyr98IlefsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_001354804.2:c.291del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341733.1:p.Tyr98IlefsTer10",
        "hgvsWellDefined": "NP_001341733.1:p.[Tyr98_Cys103delinsIleLeu;His105_Ile107del;Ala109_Cys110del;Lys112_Met120delinsAlaHisThr;Gly122_Ser127del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690322"
    }
  ],
  "type": "nucleotide"
}