{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256978",
  "communityStandardTitle": [
    "NM_030753.5(WNT3):c.247C>T (p.Gln83Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28851[alleleid]",
        "alleleId": 28851,
        "preferredName": "NM_030753.5(WNT3):c.247C>T (p.Gln83Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13812",
        "RCV": [
          "RCV000014823"
        ],
        "variationId": 13812
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44851109G>A?assembly=hg19",
        "id": "chr17:g.44851109G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46773743G>A?assembly=hg38",
        "id": "chr17:g.46773743G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894653",
        "rs": 104894653
      }
    ]
  },
  "genomicAlleles": [
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      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 46773743,
          "referenceAllele": "G",
          "start": 46773742
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46773743G>A",
        "CM000679.2:g.46773743G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44851109,
          "referenceAllele": "G",
          "start": 44851108
        }
      ],
      "hgvs": [
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        "CM000679.1:g.44851109G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42206272,
          "referenceAllele": "G",
          "start": 42206271
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42206272G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49974,
          "referenceAllele": "C",
          "start": 49973
        }
      ],
      "hgvs": [
        "NG_008084.2:g.49974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000829"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012782",
      "geneNCBI_id": 7473,
      "geneSymbol": "WNT3",
      "hgvs": [
        "ENST00000706495.1:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516418.1:p.Gln18Ter",
        "hgvsWellDefined": "ENSP00000516418.1:p.Gln18_Lys290delinsPheArgGlyArgArgTrpAsnCysThrThrIleAspAspSerLeuAlaIlePheGlyProValLeuAspLysAlaThrArgGluSerAlaPheValHisAlaIleAlaSerAlaGlyValAlaPheAlaValThrArgSerCysAlaGluGlyThrSerThrIleCysGlyCysAspSerHisHisLysGlyProProGlyGluGlyTrpLysTrpGlyGlyCysSerGluAspAlaAspPheGlyValLeuValSerArgGluPheAlaAspAlaArgGluAsnArgProAspAlaArgSerAlaMetAsnLysHisAsnAsnGluAlaGlyArgThrThrIleLeuAspHisMetHisLeuLysCysLysCysHisGlyLeuSerGlySerCysGluValLysThrCysTrpTrpAlaGlnProAspPheArgAlaIleGlyAspPheLeuLysAspLysTyrAspSerAlaSerGluMetValValGluLysHisArgGluSerArgGlyTrpValGluThrLeuArgAlaLysTyrSerLeuPheLysProProThrGluArgAspLeuValTyrTyrGluAsnSerProAsnPheCysGluProAsnProGluThrGlySerPheGlyThrArgAspArgThrCysAsnValThrSerHisGlyIleAspGlyCysAspLeuLeuCysCysGlyArgGlyHisAsnThrArgThrGluLysArgLysGluLysCysHisCysIlePheHisTrpCysCysTyrValSerCysGlnGluCysIleArgIleTyrAspValHisThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012782",
      "geneNCBI_id": 7473,
      "geneSymbol": "WNT3",
      "hgvs": [
        "ENST00000225512.6:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225512.5:p.Gln83Ter",
        "hgvsWellDefined": "ENSP00000225512.5:p.Gln83_Lys355delinsPheArgGlyArgArgTrpAsnCysThrThrIleAspAspSerLeuAlaIlePheGlyProValLeuAspLysAlaThrArgGluSerAlaPheValHisAlaIleAlaSerAlaGlyValAlaPheAlaValThrArgSerCysAlaGluGlyThrSerThrIleCysGlyCysAspSerHisHisLysGlyProProGlyGluGlyTrpLysTrpGlyGlyCysSerGluAspAlaAspPheGlyValLeuValSerArgGluPheAlaAspAlaArgGluAsnArgProAspAlaArgSerAlaMetAsnLysHisAsnAsnGluAlaGlyArgThrThrIleLeuAspHisMetHisLeuLysCysLysCysHisGlyLeuSerGlySerCysGluValLysThrCysTrpTrpAlaGlnProAspPheArgAlaIleGlyAspPheLeuLysAspLysTyrAspSerAlaSerGluMetValValGluLysHisArgGluSerArgGlyTrpValGluThrLeuArgAlaLysTyrSerLeuPheLysProProThrGluArgAspLeuValTyrTyrGluAsnSerProAsnPheCysGluProAsnProGluThrGlySerPheGlyThrArgAspArgThrCysAsnValThrSerHisGlyIleAspGlyCysAspLeuLeuCysCysGlyArgGlyHisAsnThrArgThrGluLysArgLysGluLysCysHisCysIlePheHisTrpCysCysTyrValSerCysGlnGluCysIleArgIleTyrAspValHisThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740654",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225512.6:c.247C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030753.5:c.247C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225512.5:p.Gln83Ter"
          },
          "RefSeq": {
            "hgvs": "NP_110380.1:p.Gln83Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012782",
      "geneNCBI_id": 7473,
      "geneSymbol": "WNT3",
      "hgvs": [
        "ENST00000225512.5:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225512.5:p.Gln83Ter",
        "hgvsWellDefined": "ENSP00000225512.5:p.Gln83_Lys355delinsPheArgGlyArgArgTrpAsnCysThrThrIleAspAspSerLeuAlaIlePheGlyProValLeuAspLysAlaThrArgGluSerAlaPheValHisAlaIleAlaSerAlaGlyValAlaPheAlaValThrArgSerCysAlaGluGlyThrSerThrIleCysGlyCysAspSerHisHisLysGlyProProGlyGluGlyTrpLysTrpGlyGlyCysSerGluAspAlaAspPheGlyValLeuValSerArgGluPheAlaAspAlaArgGluAsnArgProAspAlaArgSerAlaMetAsnLysHisAsnAsnGluAlaGlyArgThrThrIleLeuAspHisMetHisLeuLysCysLysCysHisGlyLeuSerGlySerCysGluValLysThrCysTrpTrpAlaGlnProAspPheArgAlaIleGlyAspPheLeuLysAspLysTyrAspSerAlaSerGluMetValValGluLysHisArgGluSerArgGlyTrpValGluThrLeuArgAlaLysTyrSerLeuPheLysProProThrGluArgAspLeuValTyrTyrGluAsnSerProAsnPheCysGluProAsnProGluThrGlySerPheGlyThrArgAspArgThrCysAsnValThrSerHisGlyIleAspGlyCysAspLeuLeuCysCysGlyArgGlyHisAsnThrArgThrGluLysArgLysGluLysCysHisCysIlePheHisTrpCysCysTyrValSerCysGlnGluCysIleArgIleTyrAspValHisThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256979",
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012782",
      "geneNCBI_id": 7473,
      "geneSymbol": "WNT3",
      "hgvs": [
        "NM_030753.4:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110380.1:p.Gln83Ter",
        "hgvsWellDefined": "NP_110380.1:p.Gln83_Lys355delinsPheArgGlyArgArgTrpAsnCysThrThrIleAspAspSerLeuAlaIlePheGlyProValLeuAspLysAlaThrArgGluSerAlaPheValHisAlaIleAlaSerAlaGlyValAlaPheAlaValThrArgSerCysAlaGluGlyThrSerThrIleCysGlyCysAspSerHisHisLysGlyProProGlyGluGlyTrpLysTrpGlyGlyCysSerGluAspAlaAspPheGlyValLeuValSerArgGluPheAlaAspAlaArgGluAsnArgProAspAlaArgSerAlaMetAsnLysHisAsnAsnGluAlaGlyArgThrThrIleLeuAspHisMetHisLeuLysCysLysCysHisGlyLeuSerGlySerCysGluValLysThrCysTrpTrpAlaGlnProAspPheArgAlaIleGlyAspPheLeuLysAspLysTyrAspSerAlaSerGluMetValValGluLysHisArgGluSerArgGlyTrpValGluThrLeuArgAlaLysTyrSerLeuPheLysProProThrGluArgAspLeuValTyrTyrGluAsnSerProAsnPheCysGluProAsnProGluThrGlySerPheGlyThrArgAspArgThrCysAsnValThrSerHisGlyIleAspGlyCysAspLeuLeuCysCysGlyArgGlyHisAsnThrArgThrGluLysArgLysGluLysCysHisCysIlePheHisTrpCysCysTyrValSerCysGlnGluCysIleArgIleTyrAspValHisThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4812,
          "endIntronDirection": "+",
          "endIntronOffset": 223224,
          "referenceAllele": "G",
          "start": 4812,
          "startIntronDirection": "+",
          "startIntronOffset": 223223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032404",
      "geneNCBI_id": 474170,
      "geneSymbol": "LRRC37A2",
      "hgvs": [
        "XM_024450773.1:c.4809+223224G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306541.1:n.4809+223224G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256979",
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012782",
      "geneNCBI_id": 7473,
      "geneSymbol": "WNT3",
      "hgvs": [
        "NM_030753.5:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110380.1:p.Gln83Ter",
        "hgvsWellDefined": "NP_110380.1:p.Gln83_Lys355delinsPheArgGlyArgArgTrpAsnCysThrThrIleAspAspSerLeuAlaIlePheGlyProValLeuAspLysAlaThrArgGluSerAlaPheValHisAlaIleAlaSerAlaGlyValAlaPheAlaValThrArgSerCysAlaGluGlyThrSerThrIleCysGlyCysAspSerHisHisLysGlyProProGlyGluGlyTrpLysTrpGlyGlyCysSerGluAspAlaAspPheGlyValLeuValSerArgGluPheAlaAspAlaArgGluAsnArgProAspAlaArgSerAlaMetAsnLysHisAsnAsnGluAlaGlyArgThrThrIleLeuAspHisMetHisLeuLysCysLysCysHisGlyLeuSerGlySerCysGluValLysThrCysTrpTrpAlaGlnProAspPheArgAlaIleGlyAspPheLeuLysAspLysTyrAspSerAlaSerGluMetValValGluLysHisArgGluSerArgGlyTrpValGluThrLeuArgAlaLysTyrSerLeuPheLysProProThrGluArgAspLeuValTyrTyrGluAsnSerProAsnPheCysGluProAsnProGluThrGlySerPheGlyThrArgAspArgThrCysAsnValThrSerHisGlyIleAspGlyCysAspLeuLeuCysCysGlyArgGlyHisAsnThrArgThrGluLysArgLysGluLysCysHisCysIlePheHisTrpCysCysTyrValSerCysGlnGluCysIleArgIleTyrAspValHisThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670992",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225512.6:c.247C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030753.5:c.247C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225512.5:p.Gln83Ter"
          },
          "RefSeq": {
            "hgvs": "NP_110380.1:p.Gln83Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}