{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379964707",
  "communityStandardTitle": [
    "NM_024426.6(WT1):c.546C>G (p.Tyr182Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.32456361G>C?assembly=hg19",
        "id": "chr11:g.32456361G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.32434815G>C?assembly=hg38",
        "id": "chr11:g.32434815G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121907911",
        "rs": 121907911
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 32434815,
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          "start": 32434814
        }
      ],
      "hgvs": [
        "NC_000011.10:g.32434815G>C",
        "CM000673.2:g.32434815G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 32456361,
          "referenceAllele": "G",
          "start": 32456360
        }
      ],
      "hgvs": [
        "NC_000011.9:g.32456361G>C",
        "CM000673.1:g.32456361G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 32412937,
          "referenceAllele": "G",
          "start": 32412936
        }
      ],
      "hgvs": [
        "NC_000011.8:g.32412937G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5727,
          "referenceAllele": "C",
          "start": 5726
        }
      ],
      "hgvs": [
        "NG_009272.1:g.5727C>G",
        "LRG_525:g.5727C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
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      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000332351.9:c.546C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000331327.5:p.Tyr182_Leu502delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000379077.9:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368368.5:p.Tyr182Ter",
        "hgvsWellDefined": "ENSP00000368368.5:p.Tyr182_Gly322delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752167"
    },
    {
      "coordinates": [
        {
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          "end": 721,
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000413452.5:p.Tyr182_Leu519delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000415516.5:p.Tyr182_Leu522delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyLysThrSerGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756399",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452863.10:c.546C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024426.6:c.546C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415516.5:p.Tyr182Ter"
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          "RefSeq": {
            "hgvs": "NP_077744.4:p.Tyr182Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000639563.3:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492269.3:p.Tyr182Ter",
        "hgvsWellDefined": "ENSP00000492269.3:p.Tyr182_Leu505delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyLysThrSerGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000332351.7:c.531C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331327.3:p.Tyr177Ter",
        "hgvsWellDefined": "ENSP00000331327.3:p.Tyr177_Leu517delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyLysThrSerGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000379077.7:c.531C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368368.3:p.Tyr177Ter",
        "hgvsWellDefined": "ENSP00000368368.3:p.Tyr177_Gly317delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000448076.7:c.531C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413452.3:p.Tyr177Ter",
        "hgvsWellDefined": "ENSP00000413452.3:p.Tyr177_Leu514delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000452863.7:c.531C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415516.3:p.Tyr177Ter",
        "hgvsWellDefined": "ENSP00000415516.3:p.Tyr177_Leu497delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.4:c.531C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.3:p.Tyr177Ter",
        "hgvsWellDefined": "NP_000369.3:p.Tyr177_Leu497delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.3:c.531C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.2:p.Tyr177Ter",
        "hgvsWellDefined": "NP_077742.2:p.Tyr177_Leu514delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037765"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252809",
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.4:c.531C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.3:p.Tyr177Ter",
        "hgvsWellDefined": "NP_077744.3:p.Tyr177_Leu517delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyLysThrSerGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160955",
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.5:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.4:p.Tyr182Ter",
        "hgvsWellDefined": "NP_000369.4:p.Tyr182_Leu502delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829999476",
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.4:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.3:p.Tyr182Ter",
        "hgvsWellDefined": "NP_077742.3:p.Tyr182_Leu519delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916075442",
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.5:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.4:p.Tyr182Ter",
        "hgvsWellDefined": "NP_077744.4:p.Tyr182_Leu522delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyLysThrSerGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NR_160306.1:n.725C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160955",
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.6:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.4:p.Tyr182Ter",
        "hgvsWellDefined": "NP_000369.4:p.Tyr182_Leu502delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829999476",
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.5:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.3:p.Tyr182Ter",
        "hgvsWellDefined": "NP_077742.3:p.Tyr182_Leu519delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916075442",
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.6:c.546C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.4:p.Tyr182Ter",
        "hgvsWellDefined": "NP_077744.4:p.Tyr182_Leu522delinsGlyProPheGlyProProProProSerGlnAlaSerSerGlyGlnAlaArgMetPheProAsnAlaProTyrLeuProSerCysLeuGluSerGlnProAlaIleArgAsnGlnGlyTyrSerThrValThrPheAspGlyThrProSerTyrGlyHisThrProSerHisHisAlaAlaGlnPheProAsnHisSerPheLysHisGluAspProMetGlyGlnGlnGlySerLeuGlyGluGlnGlnTyrSerValProProProValTyrGlyCysHisThrProThrAspSerCysThrGlySerGlnAlaLeuLeuLeuArgThrProTyrSerSerAspAsnLeuTyrGlnMetThrSerGlnLeuGluCysMetThrTrpAsnGlnMetAsnLeuGlyAlaThrLeuLysGlyValAlaAlaGlySerSerSerSerValLysTrpThrGluGlyGlnSerAsnHisSerThrGlyTyrGluSerAspAsnHisThrThrProIleLeuCysGlyAlaGlnTyrArgIleHisThrHisGlyValPheArgGlyIleGlnAspValArgArgValProGlyValAlaProThrLeuValArgSerAlaSerGluThrSerGluLysArgProPheMetCysAlaTyrProGlyCysAsnLysArgTyrPheLysLeuSerHisLeuGlnMetHisSerArgLysHisThrGlyGluLysProTyrGlnCysAspPheLysAspCysGluArgArgPheSerArgSerAspGlnLeuLysArgHisGlnArgArgHisThrGlyValLysProPheGlnCysLysThrCysGlnArgLysPheSerArgSerAspHisLeuLysThrHisThrArgThrHisThrGlyLysThrSerGluLysProPheSerCysArgTrpProSerCysGlnLysLysPheAlaArgSerAspGluLeuValArgHisHisAsnMetHisGlnArgAsnMetThrLysLeuGlnLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452863.10:c.546C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024426.6:c.546C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415516.5:p.Tyr182Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077744.4:p.Tyr182Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}