{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA143727",
  "communityStandardTitle": [
    "NM_005430.4(WNT1):c.946_949dup (p.Ser317LysfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59408[alleleid]",
        "alleleId": 59408,
        "preferredName": "NM_005430.4(WNT1):c.946_949dup (p.Ser317fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50261",
        "RCV": [
          "RCV000043496"
        ],
        "variationId": 50261
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49375256_49375259dupAACA?assembly=hg19",
        "id": "chr12:g.49375256_49375259dupAACA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48981473_48981476dupAACA?assembly=hg38",
        "id": "chr12:g.48981473_48981476dupAACA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907357",
        "rs": 387907357
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "AACA",
          "end": 48981476,
          "referenceAllele": "",
          "start": 48981476
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48981473_48981476dup",
        "CM000674.2:g.48981473_48981476dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "AACA",
          "end": 49375259,
          "referenceAllele": "",
          "start": 49375259
        }
      ],
      "hgvs": [
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        "CM000674.1:g.49375256_49375259dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "AACA",
          "end": 47661526,
          "referenceAllele": "",
          "start": 47661526
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47661523_47661526dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 8024,
          "referenceAllele": "",
          "start": 8024
        }
      ],
      "hgvs": [
        "NG_033141.1:g.8021_8024dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005453"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 1278,
          "referenceAllele": "",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "ENST00000293549.4:c.946_949dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293549.3:p.Ser317LysfsTer?",
        "hgvsWellDefined": "ENSP00000293549.3:p.[Ser317_Pro320delinsLysGlnLeuVal;Leu322_Asp323delinsArgAla;Cys325_Glu326delinsArgLeuArgAlaAla;Cys329_Cys330delinsArgGln;Arg332_Gly333delinsProPro;Arg335_Gln339delinsAlaHisAlaAla;Val341_Asn346delinsHisArgAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293549.4:c.946_949dup"
          },
          "RefSeq": {
            "hgvs": "NM_005430.4:c.946_949dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293549.3:p.Ser317LysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005421.1:p.Ser317LysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 985,
          "referenceAllele": "",
          "start": 985
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      "geneSymbol": "WNT1",
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        "ENST00000293549.3:c.946_949dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293549.3:p.Ser317LysfsTer?",
        "hgvsWellDefined": "ENSP00000293549.3:p.[Ser317_Pro320delinsLysGlnLeuVal;Leu322_Asp323delinsArgAla;Cys325_Glu326delinsArgLeuArgAlaAla;Cys329_Cys330delinsArgGln;Arg332_Gly333delinsProPro;Arg335_Gln339delinsAlaHisAlaAla;Val341_Asn346delinsHisArgAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253889"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 1114,
          "referenceAllele": "",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "ENST00000613114.4:c.913_916dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481240.1:p.Ser306LysfsTer?",
        "hgvsWellDefined": "ENSP00000481240.1:p.[Ser306_Pro309delinsLysGlnLeuVal;Leu311_Asp312delinsArgAla;Cys314_Glu315delinsArgLeuArgAlaAla;Cys318_Cys319delinsArgGln;Arg321_Gly322delinsProPro;Arg324_Gln328delinsAlaHisAlaAla;Val330_Asn335delinsHisArgAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401607"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 1147,
          "referenceAllele": "",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "NM_005430.3:c.946_949dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005421.1:p.Ser317LysfsTer?",
        "hgvsWellDefined": "NP_005421.1:p.[Ser317_Pro320delinsLysGlnLeuVal;Leu322_Asp323delinsArgAla;Cys325_Glu326delinsArgLeuArgAlaAla;Cys329_Cys330delinsArgGln;Arg332_Gly333delinsProPro;Arg335_Gln339delinsAlaHisAlaAla;Val341_Asn346delinsHisArgAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030526"
    },
    {
      "coordinates": [
        {
          "allele": "AACA",
          "end": 1278,
          "referenceAllele": "",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "NM_005430.4:c.946_949dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005421.1:p.Ser317LysfsTer?",
        "hgvsWellDefined": "NP_005421.1:p.[Ser317_Pro320delinsLysGlnLeuVal;Leu322_Asp323delinsArgAla;Cys325_Glu326delinsArgLeuArgAlaAla;Cys329_Cys330delinsArgGln;Arg332_Gly333delinsProPro;Arg335_Gln339delinsAlaHisAlaAla;Val341_Asn346delinsHisArgAlaLeuGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293549.4:c.946_949dup"
          },
          "RefSeq": {
            "hgvs": "NM_005430.4:c.946_949dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293549.3:p.Ser317LysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005421.1:p.Ser317LysfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}