{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA225383106",
  "communityStandardTitle": [
    "NM_012193.4(FZD4):c.244_251del (p.Phe82AlafsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.86665877_86665884del?assembly=hg19",
        "id": "chr11:g.86665877_86665884del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.86954835_86954842del?assembly=hg38",
        "id": "chr11:g.86954835_86954842del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358283",
        "rs": 80358283
      }
    ]
  },
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    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 86954842,
          "referenceAllele": "GGTGTGAA",
          "start": 86954834
        }
      ],
      "hgvs": [
        "NC_000011.10:g.86954835_86954842del",
        "CM000673.2:g.86954835_86954842del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 86665884,
          "referenceAllele": "GGTGTGAA",
          "start": 86665876
        }
      ],
      "hgvs": [
        "NC_000011.9:g.86665877_86665884del",
        "CM000673.1:g.86665877_86665884del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 86343532,
          "referenceAllele": "GGTGTGAA",
          "start": 86343524
        }
      ],
      "hgvs": [
        "NC_000011.8:g.86343525_86343532del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5557,
          "referenceAllele": "TTCACACC",
          "start": 5549
        }
      ],
      "hgvs": [
        "NG_011752.1:g.5550_5557del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001950"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 561,
          "referenceAllele": "TTCACACC",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.2:c.244_251del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Phe82AlafsTer?",
        "hgvsWellDefined": "ENSP00000434034.1:p.[Phe82_Thr83delinsAlaHis;Pro84_Leu85insValArg;Ile86Leu;Tyr88_Gln93delinsProAlaAlaValLeuPro;Gln95del;Phe97Cys;Ser100_Tyr102delinsAlaAsn;Pro104_Thr107delinsHisArg;Lys109_Pro113delinsAspGlnHisProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.244_251del"
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.244_251del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Phe82AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Phe82AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 557,
          "referenceAllele": "TTCACACC",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.1:c.244_251del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Phe82AlafsTer?",
        "hgvsWellDefined": "ENSP00000434034.1:p.[Phe82_Thr83delinsAlaHis;Pro84_Leu85insValArg;Ile86Leu;Tyr88_Gln93delinsProAlaAlaValLeuPro;Gln95del;Phe97Cys;Ser100_Tyr102delinsAlaAsn;Pro104_Thr107delinsHisArg;Lys109_Pro113delinsAspGlnHisProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 564,
          "referenceAllele": "TTCACACC",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.3:c.244_251del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Phe82AlafsTer?",
        "hgvsWellDefined": "NP_036325.2:p.[Phe82_Thr83delinsAlaHis;Pro84_Leu85insValArg;Ile86Leu;Tyr88_Gln93delinsProAlaAlaValLeuPro;Gln95del;Phe97Cys;Ser100_Tyr102delinsAlaAsn;Pro104_Thr107delinsHisArg;Lys109_Pro113delinsAspGlnHisProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032384"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 561,
          "referenceAllele": "TTCACACC",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.4:c.244_251del"
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Phe82AlafsTer?",
        "hgvsWellDefined": "NP_036325.2:p.[Phe82_Thr83delinsAlaHis;Pro84_Leu85insValArg;Ile86Leu;Tyr88_Gln93delinsProAlaAlaValLeuPro;Gln95del;Phe97Cys;Ser100_Tyr102delinsAlaAsn;Pro104_Thr107delinsHisArg;Lys109_Pro113delinsAspGlnHisProHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.244_251del"
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.244_251del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Phe82AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Phe82AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}