{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2739277062",
  "communityStandardTitle": [
    "NM_000311.5(PRNP):c.350_351delinsTG (p.Ala117Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2966672[alleleid]",
        "alleleId": 2966672,
        "preferredName": "NM_000311.5(PRNP):c.350_351inv (p.Ala117Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2815837",
        "RCV": [
          "RCV003627888"
        ],
        "variationId": 2815837
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "TG",
          "end": 4699571,
          "referenceAllele": "CA",
          "start": 4699569
        }
      ],
      "hgvs": [
        "NC_000020.11:g.4699570_4699571delinsTG",
        "CM000682.2:g.4699570_4699571delinsTG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "TG",
          "end": 4680217,
          "referenceAllele": "CA",
          "start": 4680215
        }
      ],
      "hgvs": [
        "NC_000020.10:g.4680216_4680217delinsTG",
        "CM000682.1:g.4680216_4680217delinsTG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "TG",
          "end": 4628217,
          "referenceAllele": "CA",
          "start": 4628215
        }
      ],
      "hgvs": [
        "NC_000020.9:g.4628216_4628217delinsTG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 18421,
          "referenceAllele": "CA",
          "start": 18419
        }
      ],
      "hgvs": [
        "NG_009087.1:g.18420_18421delinsTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 418,
          "referenceAllele": "CA",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "ENST00000379440.9:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368752.4:p.Ala117Val",
        "hgvsWellDefined": "ENSP00000368752.4:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379440.9:c.350_351delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_000311.5:c.350_351delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368752.4:p.Ala117Val"
          },
          "RefSeq": {
            "hgvs": "NP_000302.1:p.Ala117Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 410,
          "referenceAllele": "CA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "ENST00000424424.2:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411599.2:p.Ala117Val",
        "hgvsWellDefined": "ENSP00000411599.2:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755028"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 555,
          "referenceAllele": "CA",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "ENST00000457586.2:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415284.2:p.Ala117Val",
        "hgvsWellDefined": "ENSP00000415284.2:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756599"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 638,
          "referenceAllele": "CA",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "ENST00000379440.8:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368752.4:p.Ala117Val",
        "hgvsWellDefined": "ENSP00000368752.4:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272497"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 410,
          "referenceAllele": "CA",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "ENST00000424424.1:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411599.1:p.Ala117Val",
        "hgvsWellDefined": "ENSP00000411599.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288254"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 520,
          "referenceAllele": "CA",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "ENST00000430350.2:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399376.2:p.Ala117Val",
        "hgvsWellDefined": "ENSP00000399376.2:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291105"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 555,
          "referenceAllele": "CA",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "ENST00000457586.1:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415284.1:p.Ala117Val",
        "hgvsWellDefined": "ENSP00000415284.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256777",
      "coordinates": [
        {
          "allele": "TG",
          "end": 723,
          "referenceAllele": "CA",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_000311.3:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000302.1:p.Ala117Val",
        "hgvsWellDefined": "NP_000302.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464148",
      "coordinates": [
        {
          "allele": "TG",
          "end": 718,
          "referenceAllele": "CA",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080121.1:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073590.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073590.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464297",
      "coordinates": [
        {
          "allele": "TG",
          "end": 714,
          "referenceAllele": "CA",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080122.1:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073591.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073591.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464427",
      "coordinates": [
        {
          "allele": "TG",
          "end": 587,
          "referenceAllele": "CA",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080123.1:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073592.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073592.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010141"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 723,
          "referenceAllele": "CA",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001271561.1:c.*39_*40delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258490.1:n.*39_*40delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052464",
      "coordinates": [
        {
          "allele": "TG",
          "end": 719,
          "referenceAllele": "CA",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_183079.2:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_898902.1:p.Ala117Val",
        "hgvsWellDefined": "NP_898902.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256777",
      "coordinates": [
        {
          "allele": "TG",
          "end": 780,
          "referenceAllele": "CA",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_000311.4:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000302.1:p.Ala117Val",
        "hgvsWellDefined": "NP_000302.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464148",
      "coordinates": [
        {
          "allele": "TG",
          "end": 775,
          "referenceAllele": "CA",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080121.2:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073590.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073590.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464297",
      "coordinates": [
        {
          "allele": "TG",
          "end": 771,
          "referenceAllele": "CA",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080122.2:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073591.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073591.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464427",
      "coordinates": [
        {
          "allele": "TG",
          "end": 592,
          "referenceAllele": "CA",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080123.2:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073592.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073592.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511223"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 776,
          "referenceAllele": "CA",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001271561.2:c.*39_*40delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258490.1:n.*39_*40delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052464",
      "coordinates": [
        {
          "allele": "TG",
          "end": 776,
          "referenceAllele": "CA",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_183079.3:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_898902.1:p.Ala117Val",
        "hgvsWellDefined": "NP_898902.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256777",
      "coordinates": [
        {
          "allele": "TG",
          "end": 418,
          "referenceAllele": "CA",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_000311.5:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000302.1:p.Ala117Val",
        "hgvsWellDefined": "NP_000302.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379440.9:c.350_351delinsTG"
          },
          "RefSeq": {
            "hgvs": "NM_000311.5:c.350_351delinsTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368752.4:p.Ala117Val"
          },
          "RefSeq": {
            "hgvs": "NP_000302.1:p.Ala117Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464148",
      "coordinates": [
        {
          "allele": "TG",
          "end": 413,
          "referenceAllele": "CA",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080121.3:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073590.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073590.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464297",
      "coordinates": [
        {
          "allele": "TG",
          "end": 409,
          "referenceAllele": "CA",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080122.3:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073591.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073591.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464427",
      "coordinates": [
        {
          "allele": "TG",
          "end": 642,
          "referenceAllele": "CA",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001080123.3:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073592.1:p.Ala117Val",
        "hgvsWellDefined": "NP_001073592.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676241"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 414,
          "referenceAllele": "CA",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_001271561.3:c.*39_*40delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258490.1:n.*39_*40delinsTG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052464",
      "coordinates": [
        {
          "allele": "TG",
          "end": 414,
          "referenceAllele": "CA",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009449",
      "geneNCBI_id": 5621,
      "geneSymbol": "PRNP",
      "hgvs": [
        "NM_183079.4:c.350_351delinsTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_898902.1:p.Ala117Val",
        "hgvsWellDefined": "NP_898902.1:p.Ala117Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701163"
    }
  ],
  "type": "nucleotide"
}