{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412674570",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.283G>T (p.Gly95Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6413218",
        "active": true,
        "id": "COSM6413218"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6413219",
        "active": true,
        "id": "COSM6413219"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6413220",
        "active": true,
        "id": "COSM6413220"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492861[alleleid]",
        "alleleId": 492861,
        "preferredName": "NM_004006.3(DMD):c.283G>T (p.Gly95Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501437",
        "RCV": [
          "RCV000594366",
          "RCV001390176"
        ],
        "variationId": 501437
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32841486C>A?assembly=hg19",
        "id": "chrX:g.32841486C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32823369C>A?assembly=hg38",
        "id": "chrX:g.32823369C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1557058415",
        "rs": 1557058415
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32823369,
          "referenceAllele": "C",
          "start": 32823368
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32823369C>A",
        "CM000685.2:g.32823369C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32841486,
          "referenceAllele": "C",
          "start": 32841485
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32841486C>A",
        "CM000685.1:g.32841486C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32751407,
          "referenceAllele": "C",
          "start": 32751406
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32751407C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521241,
          "referenceAllele": "G",
          "start": 521240
        }
      ],
      "hgvs": [
        "NG_012232.1:g.521241G>T",
        "LRG_199:g.521241G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682071.1:c.-87G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508133.1:n.-87G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682437.1:n.607G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682584.1:n.607G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682870.1:n.468G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.490G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682924.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508187.1:p.Gly95Ter",
        "hgvsWellDefined": "ENSP00000508187.1:p.Gly95_Ile449delinsSerThrAspIleValAspGlyAsnHisLysLeuThrLeuGlyLeuIleTrpAsnIleIleLeuHisTrpGlnValLysAsnValMetLysAsnIleMetAlaGlyLeuGlnGlnThrAsnSerGluLysIleLeuLeuSerTrpValArgGlnSerThrArgAsnTyrProGlnValAsnValIleAsnPheThrThrSerTrpSerAspGlyLeuAlaLeuAsnAlaLeuIleHisSerHisArgProAspLeuPheAspTrpAsnSerValValCysGlnGlnSerAlaThrGlnArgLeuGluHisAlaPheAsnIleAlaArgTyrGlnLeuGlyIleGluLysLeuLeuAspProGluAspValAspThrThrTyrProAspLysLysSerIleLeuMetTyrIleThrSerLeuPheGlnValLeuProGlnGlnValSerIleGluAlaIleGlnGluValGluMetLeuProArgProProLysValThrLysGluGluHisPheGlnLeuHisHisGlnMetHisTyrSerGlnGlnIleThrValSerLeuAlaGlnGlyTyrGluArgThrSerSerProLysProArgPheLysSerTyrAlaTyrThrGlnAlaAlaTyrValThrThrSerAspProThrArgSerProPheProSerGlnHisLeuGluAlaProGluAspLysSerPheGlySerSerLeuMetGluSerGluValAsnLeuAspArgTyrGlnThrAlaLeuGluGluValLeuSerTrpLeuLeuSerAlaGluAspThrLeuGlnAlaGlnGlyGluIleSerAsnAspValGluValValLysAspGlnPheHisThrHisGluGlyTyrMetMetAspLeuThrAlaHisGlnGlyArgValGlyAsnIleLeuGlnLeuGlySerLysLeuIleGlyThrGlyLysLeuSerGluAspGluGluThrGluValGlnGluGlnMetAsnLeuLeuAsnSerArgTrpGluCysLeuArgValAlaSerMetGluLysGlnSerLysCysPheLysLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683309.1:n.467G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683658.1:n.628G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.490G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684056.1:n.467G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684165.1:n.490G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684237.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507277.1:p.Gly95Ter",
        "hgvsWellDefined": "ENSP00000507277.1:p.Gly95_Lys491del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684292.1:n.490G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684357.1:n.467G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684660.1:n.468G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.259G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Gly87Ter",
        "hgvsWellDefined": "ENSP00000288447.4:p.Gly87_Leu772delinsSerThrAspIleValAspGlyAsnHisLysLeuThrLeuGlyLeuIleTrpAsnIleIleLeuHisTrpGlnValLysAsnValMetLysAsnIleMetAlaGlyLeuGlnGlnThrAsnSerGluLysIleLeuLeuSerTrpValArgGlnSerThrArgAsnTyrProGlnValAsnValIleAsnPheThrThrSerTrpSerAspGlyLeuAlaLeuAsnAlaLeuIleHisSerHisArgProAspLeuPheAspTrpAsnSerValValCysGlnGlnSerAlaThrGlnArgLeuGluHisAlaPheAsnIleAlaArgTyrGlnLeuGlyIleGluLysLeuLeuAspProGluAspValAspThrThrTyrProAspLysLysSerIleLeuMetTyrIleThrSerLeuPheGlnValLeuProGlnGlnValSerIleGluAlaIleGlnGluValGluMetLeuProArgProProLysValThrLysGluGluHisPheGlnLeuHisHisGlnMetHisTyrSerGlnGlnIleThrValSerLeuAlaGlnGlyTyrGluArgThrSerSerProLysProArgPheLysSerTyrAlaTyrThrGlnAlaAlaTyrValThrThrSerAspProThrArgSerProPheProSerGlnHisLeuGluAlaProGluAspLysSerPheGlySerSerLeuMetGluSerGluValAsnLeuAspArgTyrGlnThrAlaLeuGluGluValLeuSerTrpLeuLeuSerAlaGluAspThrLeuGlnAlaGlnGlyGluIleSerAsnAspValGluValValLysAspGlnPheHisThrHisGluGlyTyrMetMetAspLeuThrAlaHisGlnGlyArgValGlyAsnIleLeuGlnLeuGlySerLysLeuIleGlyThrGlyLysLeuSerGluAspGluGluThrGluValGlnGluGlnMetAsnLeuLeuAsnSerArgTrpGluCysLeuArgValAlaSerMetGluLysGlnSerAsnLeuHisArgValLeuMetAspLeuGlnAsnGlnLysLeuLysGluLeuAsnAspTrpLeuThrLysThrGluGluArgThrArgLysMetGluGluGluProLeuGlyProAspLeuGluAspLeuLysArgGlnValGlnGlnHisLysValLeuGlnGluAspLeuGluGlnGluGlnValArgValAsnSerLeuThrHisMetValValValValAspGluSerSerGlyAspHisAlaThrAlaAlaLeuGluGluGlnLeuLysValLeuGlyAspArgTrpAlaAsnIleCysArgTrpThrGluAspArgTrpValLeuLeuGlnAspIleLeuLeuLysTrpGlnArgLeuThrGluGluGlnCysLeuPheSerAlaTrpLeuSerGluLysGluAspAlaValAsnLysIleHisThrThrGlyPheLysAspGlnAsnGluMetLeuSerSerLeuGlnLysLeuAlaValLeuLysAlaAspLeuGluLysLysLysGlnSerMetGlyLysLeuTyrSerLeuLysGlnAspLeuLeuSerThrLeuLysAsnLysSerValThrGlnLysThrGluAlaTrpLeuAspAsnPheAlaArgCysTrpAspAsnLeuValGlnLysLeuGluLysSerThrAlaGlnIleSerGlnAlaValThrThrThrGlnProSerLeuThrGlnThrThrValMetGluThrValThrThrValThrThrArgGluGlnIleLeuValLysHisAlaGlnGluGluLeuProProProProProGlnLysLysArgGlnIleThrValAspSerGluIleArgLysArgLeuAspValAspIleThrGluLeuHisSerTrpIleThrArgSerGluAlaValLeuGlnSerProGluPheAlaIlePheArgLysGluGlyAsnPheSerAspLeuLysGluLysValAsnValGlyTyrAlaLeuIlePheIleSerValLeuIleLeuCysCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.283G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.283G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gly95Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gly95Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.259G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Gly87Ter",
        "hgvsWellDefined": "ENSP00000288447.4:p.Gly87_Leu772delinsSerThrAspIleValAspGlyAsnHisLysLeuThrLeuGlyLeuIleTrpAsnIleIleLeuHisTrpGlnValLysAsnValMetLysAsnIleMetAlaGlyLeuGlnGlnThrAsnSerGluLysIleLeuLeuSerTrpValArgGlnSerThrArgAsnTyrProGlnValAsnValIleAsnPheThrThrSerTrpSerAspGlyLeuAlaLeuAsnAlaLeuIleHisSerHisArgProAspLeuPheAspTrpAsnSerValValCysGlnGlnSerAlaThrGlnArgLeuGluHisAlaPheAsnIleAlaArgTyrGlnLeuGlyIleGluLysLeuLeuAspProGluAspValAspThrThrTyrProAspLysLysSerIleLeuMetTyrIleThrSerLeuPheGlnValLeuProGlnGlnValSerIleGluAlaIleGlnGluValGluMetLeuProArgProProLysValThrLysGluGluHisPheGlnLeuHisHisGlnMetHisTyrSerGlnGlnIleThrValSerLeuAlaGlnGlyTyrGluArgThrSerSerProLysProArgPheLysSerTyrAlaTyrThrGlnAlaAlaTyrValThrThrSerAspProThrArgSerProPheProSerGlnHisLeuGluAlaProGluAspLysSerPheGlySerSerLeuMetGluSerGluValAsnLeuAspArgTyrGlnThrAlaLeuGluGluValLeuSerTrpLeuLeuSerAlaGluAspThrLeuGlnAlaGlnGlyGluIleSerAsnAspValGluValValLysAspGlnPheHisThrHisGluGlyTyrMetMetAspLeuThrAlaHisGlnGlyArgValGlyAsnIleLeuGlnLeuGlySerLysLeuIleGlyThrGlyLysLeuSerGluAspGluGluThrGluValGlnGluGlnMetAsnLeuLeuAsnSerArgTrpGluCysLeuArgValAlaSerMetGluLysGlnSerAsnLeuHisArgValLeuMetAspLeuGlnAsnGlnLysLeuLysGluLeuAsnAspTrpLeuThrLysThrGluGluArgThrArgLysMetGluGluGluProLeuGlyProAspLeuGluAspLeuLysArgGlnValGlnGlnHisLysValLeuGlnGluAspLeuGluGlnGluGlnValArgValAsnSerLeuThrHisMetValValValValAspGluSerSerGlyAspHisAlaThrAlaAlaLeuGluGluGlnLeuLysValLeuGlyAspArgTrpAlaAsnIleCysArgTrpThrGluAspArgTrpValLeuLeuGlnAspIleLeuLeuLysTrpGlnArgLeuThrGluGluGlnCysLeuPheSerAlaTrpLeuSerGluLysGluAspAlaValAsnLysIleHisThrThrGlyPheLysAspGlnAsnGluMetLeuSerSerLeuGlnLysLeuAlaValLeuLysAlaAspLeuGluLysLysLysGlnSerMetGlyLysLeuTyrSerLeuLysGlnAspLeuLeuSerThrLeuLysAsnLysSerValThrGlnLysThrGluAlaTrpLeuAspAsnPheAlaArgCysTrpAspAsnLeuValGlnLysLeuGluLysSerThrAlaGlnIleSerGlnAlaValThrThrThrGlnProSerLeuThrGlnThrThrValMetGluThrValThrThrValThrThrArgGluGlnIleLeuValLysHisAlaGlnGluGluLeuProProProProProGlnLysLysArgGlnIleThrValAspSerGluIleArgLysArgLeuAspValAspIleThrGluLeuHisSerTrpIleThrArgSerGluAlaValLeuGlnSerProGluPheAlaIlePheArgLysGluGlyAsnPheSerAspLeuLysGluLysValAsnValGlyTyrAlaLeuIlePheIleSerValLeuIleLeuCysCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.271G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Gly91Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 196770,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 196769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.93+196770G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.93+196770G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "G",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000447523.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395904.1:p.Gly58Ter",
        "hgvsWellDefined": "ENSP00000395904.1:p.Gly58_Glu125del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 196770,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 196769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.93+196770G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.93+196770G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 196770,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 196769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.335+196770G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.271G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Gly91Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.259G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Gly87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.283G>T",
        "LRG_199t1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.271G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Gly91Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.-87G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:n.-87G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.259G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gly87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.259G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gly87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.259G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Gly87Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Gly95Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.283G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.283G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gly95Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gly95Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}