{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359056096",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.950G>A (p.Trp317Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3081812[alleleid]",
        "alleleId": 3081812,
        "preferredName": "NM_198253.3(TERT):c.950G>A (p.Trp317Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2922204",
        "RCV": [
          "RCV003785418"
        ],
        "variationId": 2922204
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1294051C>T?assembly=hg19",
        "id": "chr5:g.1294051C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1293936C>T?assembly=hg38",
        "id": "chr5:g.1293936C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2478417168",
        "rs": 2478417168
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1293936,
          "referenceAllele": "C",
          "start": 1293935
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1293936C>T",
        "CM000667.2:g.1293936C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1294051,
          "referenceAllele": "C",
          "start": 1294050
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1294051C>T",
        "CM000667.1:g.1294051C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347051,
          "referenceAllele": "C",
          "start": 1347050
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1347051C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6112,
          "referenceAllele": "G",
          "start": 6111
        }
      ],
      "hgvs": [
        "NG_009265.1:g.6112G>A",
        "LRG_343:g.6112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Trp317Ter",
        "hgvsWellDefined": "ENSP00000309572.5:p.Trp317_Asp1132delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.950G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.950G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Trp317Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Trp317Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:p.Trp317Ter",
        "hgvsWellDefined": "ENSP00000499759.1:p.Trp317_Arg574delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyGluGluValValAlaValGluGlyProGlyProArgAlaGluCysSerArgGlySerGluLysGlyAlaGlyArgAlaLeuValLeuLeuSerProSerSerArgGlyHisThrTrpLeuPheAlaGlnAspValGluTrpThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Trp317Ter",
        "hgvsWellDefined": "ENSP00000309572.5:p.Trp317_Asp1132delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Trp317Ter",
        "hgvsWellDefined": "ENSP00000334346.6:p.Trp317_Asp1069delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:p.Trp317Ter",
        "hgvsWellDefined": "ENSP00000425003.1:p.Trp317_Gly795delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValLeuArgProValProGlyAspProAlaGlyLeuHisProLeuHisAlaAlaLeuGlnProValLeuArgArgHisGlyGluGlnAlaValCysGlyAspSerAlaGlyArgAlaAlaProAlaPheGlyGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000508104.2:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426042.2:p.Trp317Ter",
        "hgvsWellDefined": "ENSP00000426042.2:p.Trp317_Gly807delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValLeuArgProValProGlyAspProAlaGlyLeuHisProLeuHisAlaAlaLeuGlnProValLeuArgArgHisGlyGluGlnAlaValCysGlyAspSerAlaGlyArgAlaAlaProAlaPheGlyGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826181722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Trp317Ter",
        "hgvsWellDefined": "NP_001180305.1:p.Trp317_Asp1069delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742031414",
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.950G>A",
        "LRG_343t1:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Trp317Ter",
        "hgvsWellDefined": "NP_937983.2:p.Trp317_Asp1132delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.1008G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.1008G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826181722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Trp317Ter",
        "hgvsWellDefined": "NP_001180305.1:p.Trp317_Asp1069delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742031414",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Trp317Ter",
        "hgvsWellDefined": "NP_937983.2:p.Trp317_Asp1132delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuArgThrLeuValArgGlyValProGluTyrGlyCysValValAsnLeuArgLysThrValValAsnPheProValGluAspGluAlaLeuGlyGlyThrAlaPheValGlnMetProAlaHisGlyLeuPheProTrpCysGlyLeuLeuLeuAspThrArgThrLeuGluValGlnSerAspTyrSerSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.950G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.950G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Trp317Ter"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Trp317Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.1029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.1029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826181722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.950G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Trp317Ter",
        "hgvsWellDefined": "NP_001180305.1:p.Trp317_Asp1069delinsAspThrProCysProProValTyrAlaGluThrLysHisPheLeuTyrSerSerGlyAspLysGluGlnLeuArgProSerPheLeuLeuSerSerLeuArgProSerLeuThrGlyAlaArgArgLeuValGluThrIlePheLeuGlySerArgProTrpMetProGlyThrProArgArgLeuProArgLeuProGlnArgTyrTrpGlnMetArgProLeuPheLeuGluLeuLeuGlyAsnHisAlaGlnCysProTyrGlyValLeuLeuLysThrHisCysProLeuArgAlaAlaValThrProAlaAlaGlyValCysAlaArgGluLysProGlnGlySerValAlaAlaProGluGluGluAspThrAspProArgArgLeuValGlnLeuLeuArgGlnHisSerSerProTrpGlnValTyrGlyPheValArgAlaCysLeuArgArgLeuValProProGlyLeuTrpGlySerArgHisAsnGluArgArgPheLeuArgAsnThrLysLysPheIleSerLeuGlyLysHisAlaLysLeuSerLeuGlnGluLeuThrTrpLysMetSerValArgAspCysAlaTrpLeuArgArgSerProGlyValGlyCysValProAlaAlaGluHisArgLeuArgGluGluIleLeuAlaLysPheLeuHisTrpLeuMetSerValTyrValValGluLeuLeuArgSerPhePheTyrValThrGluThrThrPheGlnLysAsnArgLeuPhePheTyrArgLysSerValTrpSerLysLeuGlnSerIleGlyIleArgGlnHisLeuLysArgValGlnLeuArgGluLeuSerGluAlaGluValArgGlnHisArgGluAlaArgProAlaLeuLeuThrSerArgLeuArgPheIleProLysProAspGlyLeuArgProIleValAsnMetAspTyrValValGlyAlaArgThrPheArgArgGluLysArgAlaGluArgLeuThrSerArgValLysAlaLeuPheSerValLeuAsnTyrGluArgAlaArgArgProGlyLeuLeuGlyAlaSerValLeuGlyLeuAspAspIleHisArgAlaTrpArgThrPheValLeuArgValArgAlaGlnAspProProProGluLeuTyrPheValLysValAspValThrGlyAlaTyrAspThrIleProGlnAspArgLeuThrGluValIleAlaSerIleIleLysProGlnAsnThrTyrCysValArgArgTyrAlaValValGlnLysAlaAlaHisGlyHisValArgLysAlaPheLysSerHisValSerThrLeuThrAspLeuGlnProTyrMetArgGlnPheValAlaHisLeuGlnGluThrSerProLeuArgAspAlaValValIleGluGlnSerSerSerLeuAsnGluAlaSerSerGlyLeuPheAspValPheLeuArgPheMetCysHisHisAlaValArgIleArgGlyLysSerTyrValGlnCysGlnGlyIleProGlnGlySerIleLeuSerThrLeuLeuCysSerLeuCysTyrGlyAspMetGluAsnLysLeuPheAlaGlyIleArgArgAspGlyLeuLeuLeuArgLeuValAspAspPheLeuLeuValThrProHisLeuThrHisAlaLysThrPheLeuSerTyrAlaArgThrSerIleArgAlaSerLeuThrPheAsnArgGlyPheLysAlaGlyArgAsnMetArgArgLysLeuPheGlyValLeuArgLeuLysCysHisSerLeuPheLeuAspLeuGlnValAsnSerLeuGlnThrValCysThrAsnIleTyrLysIleLeuLeuLeuGlnAlaTyrArgPheHisAlaCysValLeuGlnLeuProPheHisGlnGlnValTrpLysAsnProThrPhePheLeuArgValIleSerAspThrAlaSerLeuCysTyrSerIleLeuLysAlaLysAsnAlaGlyMetSerLeuGlyAlaLysGlyAlaAlaGlyProLeuProSerGluAlaValGlnTrpLeuCysHisGlnAlaPheLeuLeuLysLeuThrArgHisArgValThrTyrValProLeuLeuGlySerLeuArgThrAlaGlnThrGlnLeuSerArgLysLeuProGlyThrThrLeuThrAlaLeuGluAlaAlaAlaAsnProAlaLeuProSerAspPheLysThrIleLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.1029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.1029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}