{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602482",
  "communityStandardTitle": [
    "NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387ValfsTer?)"
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        "preferredName": "NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376013",
        "RCV": [
          "RCV000418995"
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        "variationId": 376013
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      {
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    },
    {
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    },
    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS756156"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756399",
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        "maneStatus": "MANE Select",
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        },
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        }
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS758978"
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS765082"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS765357"
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    {
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    {
      "coordinates": [
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          "allele": "TGTACGGT",
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS771874"
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    {
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS247261"
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    {
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    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS016775"
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    {
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      "proteinEffect": {
        "hgvs": "NP_001185481.1:p.Ala153ValfsTer?",
        "hgvsWellDefined": "NP_001185481.1:p.[Ala153_Lys159delinsValArgTrpHisLeuArgProVal;Pro161_Met163delinsAsnAlaProSer;Ala165_Lys171delinsValLeuThrGlnAlaAlaIle;Tyr173_Lys175delinsAspIle;His178_Met181delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016776"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1332,
          "referenceAllele": "",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.3:c.1142_1143insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.2:p.Ala382ValfsTer?",
        "hgvsWellDefined": "NP_077742.2:p.[Ala382_Lys388delinsValArgTrpHisLeuArgProVal;Pro390_Met392delinsAsnAlaProSer;Ala394_Lys400delinsValLeuThrGlnAlaAlaIle;Tyr402_Lys404delinsAspIle;His407_Met410delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037765"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1332,
          "referenceAllele": "",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.4:c.1142_1143insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.3:p.Ala382ValfsTer?",
        "hgvsWellDefined": "NP_077744.3:p.[Ala382_Lys388delinsValArgTrpHisLeuArgProVal;Pro390_Met392delinsAsnAlaProSer;Ala394_Lys400delinsValLeuThrGlnAlaAlaIle;Tyr402_Lys404delinsAspIle;His407_Met410delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037766"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1285,
          "referenceAllele": "",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.5:c.1106_1107insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.4:p.Ala370ValfsTer?",
        "hgvsWellDefined": "NP_000369.4:p.[Ala370_Lys376delinsValArgTrpHisLeuArgProVal;Pro378_Met380delinsAsnAlaProSer;Ala382_Lys388delinsValLeuThrGlnAlaAlaIle;Tyr390_Lys392delinsAspIle;His395_Met398delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510785"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1336,
          "referenceAllele": "",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.4:c.1157_1158insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.3:p.Ala387ValfsTer?",
        "hgvsWellDefined": "NP_077742.3:p.[Ala387_Lys393delinsValArgTrpHisLeuArgProVal;Pro395_Met397delinsAsnAlaProSer;Ala399_Lys405delinsValLeuThrGlnAlaAlaIle;Tyr407_Lys409delinsAspIle;His412_Met415delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526153"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1336,
          "referenceAllele": "",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.5:c.1157_1158insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.4:p.Ala387ValfsTer?",
        "hgvsWellDefined": "NP_077744.4:p.[Ala387_Lys393delinsValArgTrpHisLeuArgProVal;Pro395_Met397delinsAsnAlaProSer;Ala399_Lys405delinsValLeuThrGlnAlaAlaIle;Tyr407_Lys409delinsAspIle;His412_Met415delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526154"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 396,
          "referenceAllele": "",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_001367854.1:c.-32_-31insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354783.1:n.-32_-31insTGTACGGT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664892"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1489,
          "referenceAllele": "",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NR_160306.1:n.1489_1490insTGTACGGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673465"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1285,
          "referenceAllele": "",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.6:c.1106_1107insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.4:p.Ala370ValfsTer?",
        "hgvsWellDefined": "NP_000369.4:p.[Ala370_Lys376delinsValArgTrpHisLeuArgProVal;Pro378_Met380delinsAsnAlaProSer;Ala382_Lys388delinsValLeuThrGlnAlaAlaIle;Tyr390_Lys392delinsAspIle;His395_Met398delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674818"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 729,
          "referenceAllele": "",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_001198552.2:c.455_456insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185481.1:p.Ala153ValfsTer?",
        "hgvsWellDefined": "NP_001185481.1:p.[Ala153_Lys159delinsValArgTrpHisLeuArgProVal;Pro161_Met163delinsAsnAlaProSer;Ala165_Lys171delinsValLeuThrGlnAlaAlaIle;Tyr173_Lys175delinsAspIle;His178_Met181delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679392"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1336,
          "referenceAllele": "",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.5:c.1157_1158insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.3:p.Ala387ValfsTer?",
        "hgvsWellDefined": "NP_077742.3:p.[Ala387_Lys393delinsValArgTrpHisLeuArgProVal;Pro395_Met397delinsAsnAlaProSer;Ala399_Lys405delinsValLeuThrGlnAlaAlaIle;Tyr407_Lys409delinsAspIle;His412_Met415delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698694"
    },
    {
      "coordinates": [
        {
          "allele": "TGTACGGT",
          "end": 1336,
          "referenceAllele": "",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.6:c.1157_1158insTGTACGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.4:p.Ala387ValfsTer?",
        "hgvsWellDefined": "NP_077744.4:p.[Ala387_Lys393delinsValArgTrpHisLeuArgProVal;Pro395_Met397delinsAsnAlaProSer;Ala399_Lys405delinsValLeuThrGlnAlaAlaIle;Tyr407_Lys409delinsAspIle;His412_Met415delinsCysProThrTyrArgCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452863.10:c.1157_1158insTGTACGGT"
          },
          "RefSeq": {
            "hgvs": "NM_024426.6:c.1157_1158insTGTACGGT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415516.5:p.Ala387ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_077744.4:p.Ala387ValfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}