{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350681964",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.7C>T (p.Gln3Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=825765[alleleid]",
        "alleleId": 825765,
        "preferredName": "NM_001927.4(DES):c.7C>T (p.Gln3Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836201",
        "RCV": [
          "RCV001037267",
          "RCV003490014"
        ],
        "variationId": 836201
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220283191C>T?assembly=hg19",
        "id": "chr2:g.220283191C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219418469C>T?assembly=hg38",
        "id": "chr2:g.219418469C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1954358233",
        "rs": 1954358233
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219418469-C-T?dataset=gnomad_r4",
        "id": "2-219418469-C-T",
        "variant": "2:219418469 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219418469,
          "referenceAllele": "C",
          "start": 219418468
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219418469C>T",
        "CM000664.2:g.219418469C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220283191,
          "referenceAllele": "C",
          "start": 220283190
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220283191C>T",
        "CM000664.1:g.220283191C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219991435,
          "referenceAllele": "C",
          "start": 219991434
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219991435C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5093,
          "referenceAllele": "C",
          "start": 5092
        }
      ],
      "hgvs": [
        "NG_008043.1:g.5093C>T",
        "LRG_380:g.5093C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln3Ter",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln3_Leu470delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln3Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln3Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln3Ter",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln3_Leu470delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139719121",
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.7C>T",
        "LRG_380t1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln3Ter",
        "hgvsWellDefined": "NP_001918.3:p.Gln3_Leu470delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139719121",
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln3Ter",
        "hgvsWellDefined": "NP_001918.3:p.Gln3_Leu470delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln3Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln3Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Gln3Ter",
        "hgvsWellDefined": "NP_001369637.1:p.Gln3_Leu469delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:p.Gln3Ter",
        "hgvsWellDefined": "NP_001369638.1:p.Gln3_Leu326delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:p.Gln3Ter",
        "hgvsWellDefined": "NP_001369639.1:p.Gln3_Leu447delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Gln3Ter",
        "hgvsWellDefined": "NP_001369640.1:p.Gln3_Leu463delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Gln3Ter",
        "hgvsWellDefined": "NP_001369641.1:p.Gln3_Asp465delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValLeuGluValGlyAlaGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Gln3Ter",
        "hgvsWellDefined": "NP_001369642.1:p.Gln3_Leu380delinsAlaTyrSerSerSerGlnArgValSerSerTyrArgArgThrPheGlyGlyAlaProGlyPheProLeuGlySerProLeuSerSerProValPheProArgAlaGlyPheGlySerLysGlySerSerSerSerValThrSerArgValTyrGlnValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}