{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573145904",
  "communityStandardTitle": [
    "NM_000314.8(PTEN):c.39_40dup (p.Arg14LysfsTer11)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1418513[alleleid]",
        "alleleId": 1418513,
        "preferredName": "NM_000314.8(PTEN):c.39_40dup (p.Arg14fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1423454",
        "RCV": [
          "RCV001928852"
        ],
        "variationId": 1423454
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776671",
        "rs": 587776671
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AA",
          "end": 87864509,
          "referenceAllele": "",
          "start": 87864509
        }
      ],
      "hgvs": [
        "NC_000010.11:g.87864508_87864509dup",
        "CM000672.2:g.87864508_87864509dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AA",
          "end": 89624266,
          "referenceAllele": "",
          "start": 89624266
        }
      ],
      "hgvs": [
        "NC_000010.10:g.89624265_89624266dup",
        "CM000672.1:g.89624265_89624266dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AA",
          "end": 89614246,
          "referenceAllele": "",
          "start": 89614246
        }
      ],
      "hgvs": [
        "NC_000010.9:g.89614245_89614246dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 6071,
          "referenceAllele": "",
          "start": 6071
        }
      ],
      "hgvs": [
        "NG_007466.2:g.6070_6071dup",
        "LRG_311:g.6070_6071dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000591"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3932,
          "referenceAllele": "",
          "start": 3932
        }
      ],
      "hgvs": [
        "NG_033079.1:g.3931_3932dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005411"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.2:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514759.2:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000514759.2:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914478"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000710265.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518161.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000518161.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914503"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000472832.3:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483066.2:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000483066.2:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905199"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 181,
          "referenceAllele": "",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.2:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508742.2:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000508742.2:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906576"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 715,
          "referenceAllele": "",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700021.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514757.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000514757.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910887"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 431,
          "referenceAllele": "",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700022.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514758.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000514758.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910888"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 136,
          "referenceAllele": "",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706954.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516674.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000516674.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913291"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706955.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516675.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000516675.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Glu31delinsIleLysArgMet;Cys34_Leu43delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913292"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 182,
          "referenceAllele": "",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000686459.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508909.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000508909.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830588"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509254.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000509254.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_His32delinsIleLys;Val34_Gln36delinsMet;Gly38_Leu42delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831470"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 532,
          "referenceAllele": "",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688308.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508752.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000508752.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831553"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1071,
          "referenceAllele": "",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000693560.1:c.558_559dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509861.1:p.Arg187LysfsTer11",
        "hgvsWellDefined": "ENSP00000509861.1:p.[Arg187_Asp192delinsLys;Phe194del;Leu196_Tyr200del;Tyr202_Ala207delinsLysArg;Gly209_Glu216delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834309"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.8:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000361021.3:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.39_40dup"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.39_40dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Arg14LysfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Arg14LysfsTer11"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1397,
          "referenceAllele": "",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.7:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:p.Arg14LysfsTer11",
        "hgvsWellDefined": "ENSP00000361021.3:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247170"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 42,
          "referenceAllele": "",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000462694.1:n.41_42dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306889"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 61,
          "referenceAllele": "",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000487939.1:n.60_61dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326375"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1072,
          "referenceAllele": "",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000610634.1:c.-64_-63dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477517.1:n.-64_-63dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400508"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 9,
          "referenceAllele": "",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000618586.1:n.8_9dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404003"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1071,
          "referenceAllele": "",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.5:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Arg14LysfsTer11",
        "hgvsWellDefined": "NP_000305.3:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006376"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1071,
          "referenceAllele": "",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.6:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Arg14LysfsTer11",
        "hgvsWellDefined": "NP_000305.3:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006377"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1071,
          "referenceAllele": "",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.2:c.558_559dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.2:p.Arg187LysfsTer11",
        "hgvsWellDefined": "NP_001291646.2:p.[Arg187_Asp192delinsLys;Phe194del;Leu196_Tyr200del;Tyr202_Ala207delinsLysArg;Gly209_Glu216delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025775"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 1071,
          "referenceAllele": "",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.1:c.-667_-666dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-667_-666dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025776"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 752,
          "referenceAllele": "",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_006717926.2:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717989.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "XP_006717989.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072385"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 752,
          "referenceAllele": "",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539981.1:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538283.1:p.Arg14LysfsTer11",
        "hgvsWellDefined": "XP_011538283.1:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106931"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 752,
          "referenceAllele": "",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945789.1:n.751_752dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139422"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 752,
          "referenceAllele": "",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945790.1:n.751_752dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139423"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 752,
          "referenceAllele": "",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945791.1:n.751_752dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139424"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 884,
          "referenceAllele": "",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.7:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Arg14LysfsTer11",
        "hgvsWellDefined": "NP_000305.3:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 884,
          "referenceAllele": "",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.558_559dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:p.Arg187LysfsTer11",
        "hgvsWellDefined": "NP_001291646.4:p.[Arg187_Asp192delinsLys;Phe194del;Leu196_Tyr200del;Tyr202_Ala207delinsLysArg;Gly209_Glu216delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 884,
          "referenceAllele": "",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.-667_-666dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-667_-666dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.39_40dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Arg14LysfsTer11",
        "hgvsWellDefined": "NP_000305.3:p.[Arg14_Asp19delinsLys;Phe21del;Leu23_Tyr27del;Tyr29_Ala34delinsLysArg;Gly36_Glu43delinsAspSerThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.39_40dup"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.39_40dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Arg14LysfsTer11"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Arg14LysfsTer11"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}