{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16021027",
  "communityStandardTitle": [
    "NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431323[alleleid]",
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        "preferredName": "NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437491",
        "RCV": [
          "RCV000503270"
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        "variationId": 437491
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.99374549G>A?assembly=hg19",
        "id": "chr6:g.99374549G>A"
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        "@id": "http://myvariant.info/v1/variant/chr6:g.98926673G>A?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554222122",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS005589"
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      "referenceSequence": "http://reg.genome.network/refseq/RS021492"
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      "referenceSequence": "http://reg.genome.network/refseq/RS065238"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
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      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "C",
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        }
      ],
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      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011534050.1:p.Gln106_Ile381delinsCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgThrLysLysGluLeuLysLeuMetLysSerValAsnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "referenceAllele": "C",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010726.1:c.316C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016866215.1:p.Gln106_Gln621delinsCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016866216.1:p.Gln106_Gln597delinsCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "XM_017010728.1:c.-487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866217.1:n.-487C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826613718",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_001278716.2:c.316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265645.1:p.Gln106Ter",
        "hgvsWellDefined": "NP_001265645.1:p.Gln106_Gln621delinsCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.316C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.316C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Gln106Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Gln106Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.647C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.2:n.647C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460592",
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Gln106Ter",
        "hgvsWellDefined": "NP_036292.2:p.Gln106_Gln621delinsCysProSerAlaSerLeuProPheLysArgThrProProAsnPheGlnSerGlnAspTyrValGluLeuThrPheGluGlnGlnValTyrProThrAlaValHisValLeuGluThrTyrHisProGlyAlaValIleArgIleLeuAlaCysSerAlaAsnProTyrSerProAsnProProAlaGluValArgTrpGluIleLeuTrpSerGluArgProThrLysValAsnAlaSerGlnAlaArgGlnPheLysProCysIleLysGlnIleAsnPheProThrAsnLeuIleArgLeuGluValAsnSerSerLeuLeuGluTyrTyrThrGluLeuAspAlaValValLeuHisGlyValLysAspLysProValLeuSerLeuLysThrSerLeuIleAspMetAsnAspIleGluAspAspAlaTyrAlaGluLysAspGlyCysGlyMetAspSerLeuAsnLysLysPheSerSerAlaValLeuGlyGluGlyProAsnAsnGlyTyrPheAspLysLeuProTyrGluLeuIleGlnLeuIleLeuAsnHisLeuThrLeuProAspLeuCysArgLeuAlaGlnThrCysLysLeuLeuSerGlnHisCysCysAspProLeuGlnTyrIleHisLeuAsnLeuGlnProTyrTrpAlaLysLeuAspAspThrSerLeuGluPheLeuGlnSerArgCysThrLeuValGlnTrpLeuAsnLeuSerTrpThrGlyAsnArgGlyPheIleSerValAlaGlyPheSerArgPheLeuLysValCysGlySerGluLeuValArgLeuGluLeuSerCysSerHisPheLeuAsnGluThrCysLeuGluValIleSerGluMetCysProAsnLeuGlnAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}