{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658822665",
  "communityStandardTitle": [
    "NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099GlnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=550605[alleleid]",
        "alleleId": 550605,
        "preferredName": "NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/559921",
        "RCV": [
          "RCV000677716"
        ],
        "variationId": 559921
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145737393_145737394insTGCTGCGCTCCTCATCCTGC?assembly=hg19",
        "id": "chr8:g.145737393_145737394insTGCTGCGCTCCTCATCCTGC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144512010_144512011insTGCTGCGCTCCTCATCCTGC?assembly=hg38",
        "id": "chr8:g.144512010_144512011insTGCTGCGCTCCTCATCCTGC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554896308",
        "rs": 1554896308
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TGCTGCGCTCCTCATCCTGC",
          "end": 144512010,
          "referenceAllele": "",
          "start": 144512010
        }
      ],
      "hgvs": [
        "NC_000008.11:g.144512010_144512011insTGCTGCGCTCCTCATCCTGC",
        "CM000670.2:g.144512010_144512011insTGCTGCGCTCCTCATCCTGC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TGCTGCGCTCCTCATCCTGC",
          "end": 145737393,
          "referenceAllele": "",
          "start": 145737393
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145737393_145737394insTGCTGCGCTCCTCATCCTGC",
        "CM000670.1:g.145737393_145737394insTGCTGCGCTCCTCATCCTGC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "TGCTGCGCTCCTCATCCTGC",
          "end": 145708201,
          "referenceAllele": "",
          "start": 145708201
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145708201_145708202insTGCTGCGCTCCTCATCCTGC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 10816,
          "referenceAllele": "",
          "start": 10816
        }
      ],
      "hgvs": [
        "NG_016430.1:g.10816_10817insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003184"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 10816,
          "referenceAllele": "",
          "start": 10816
        }
      ],
      "hgvs": [
        "NG_016430.2:g.10816_10817insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733343"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3342,
          "referenceAllele": "",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "ENST00000617875.6:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482313.2:p.Arg1099GlnfsTer?",
        "hgvsWellDefined": "ENSP00000482313.2:p.[Arg1099_Leu1104delinsGlnAspGluGluArgSerThr;Gly1105_Arg1106insSer;Tyr1107_Gly1117delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1119_Asp1121delinsArgSerArgGlu;Gln1123_Glu1126delinsTrpArgThrHisArgAla;Pro1127_Gly1128insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762141",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617875.6:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
          },
          "RefSeq": {
            "hgvs": "NM_004260.4:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482313.2:p.Arg1099GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004251.4:p.Arg1099GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 310,
          "referenceAllele": "",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "ENST00000301323.7:c.310_311insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS254993"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 49,
          "endIntronDirection": "-",
          "endIntronOffset": 221,
          "referenceAllele": "",
          "start": 49,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "ENST00000529424.2:n.50-222_50-221insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354811"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 539,
          "referenceAllele": "",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "ENST00000531875.2:c.539_540insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477910.1:p.Arg181GlnfsTer?",
        "hgvsWellDefined": "ENSP00000477910.1:p.[Arg181_Leu186delinsGlnAspGluGluArgSerThr;Gly187_Arg188insSer;Tyr189_Gly199delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met201_Asp203delinsArgSerArgGlu;Gln205_Glu208delinsTrpArgThrHisArgAla;Pro209_Gly210insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356891"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3335,
          "referenceAllele": "",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "ENST00000617875.4:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482313.1:p.Arg1099GlnfsTer?",
        "hgvsWellDefined": "ENSP00000482313.1:p.[Arg1099_Leu1104delinsGlnAspGluGluArgSerThr;Gly1105_Arg1106insSer;Tyr1107_Gly1117delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1119_Asp1121delinsArgSerArgGlu;Gln1123_Glu1126delinsTrpArgThrHisArgAla;Pro1127_Gly1128insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403673"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3419,
          "referenceAllele": "",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "ENST00000621189.4:c.2222_2223insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483145.1:p.Arg742GlnfsTer?",
        "hgvsWellDefined": "ENSP00000483145.1:p.[Arg742_Leu747delinsGlnAspGluGluArgSerThr;Gly748_Arg749insSer;Tyr750_Gly760delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met762_Asp764delinsArgSerArgGlu;Gln766_Glu769delinsTrpArgThrHisArgAla;Pro770_Gly771insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405163"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3335,
          "referenceAllele": "",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "NM_004260.3:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_004251.3:p.Arg1099GlnfsTer?",
        "hgvsWellDefined": "NP_004251.3:p.[Arg1099_Leu1104delinsGlnAspGluGluArgSerThr;Gly1105_Arg1106insSer;Tyr1107_Gly1117delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1119_Asp1121delinsArgSerArgGlu;Gln1123_Glu1126delinsTrpArgThrHisArgAla;Pro1127_Gly1128insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029430"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3405,
          "referenceAllele": "",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_011517380.1:c.3368_3369insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515682.1:p.Arg1124GlnfsTer?",
        "hgvsWellDefined": "XP_011515682.1:p.[Arg1124_Leu1129delinsGlnAspGluGluArgSerThr;Gly1130_Arg1131insSer;Tyr1132_Gly1142delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1144_Asp1146delinsArgSerArgGlu;Gln1148_Glu1151delinsTrpArgThrHisArgAla;Pro1152_Gly1153insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084578"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3309,
          "referenceAllele": "",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_011517381.1:c.3272_3273insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515683.1:p.Arg1092GlnfsTer?",
        "hgvsWellDefined": "XP_011515683.1:p.[Arg1092_Leu1097delinsGlnAspGluGluArgSerThr;Gly1098_Arg1099insSer;Tyr1100_Gly1110delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1112_Asp1114delinsArgSerArgGlu;Gln1116_Glu1119delinsTrpArgThrHisArgAla;Pro1120_Gly1121insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084579"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3213,
          "referenceAllele": "",
          "start": 3213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_011517382.1:c.3176_3177insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515684.1:p.Arg1060GlnfsTer?",
        "hgvsWellDefined": "XP_011515684.1:p.[Arg1060_Leu1065delinsGlnAspGluGluArgSerThr;Gly1066_Arg1067insSer;Tyr1068_Gly1078delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1080_Asp1082delinsArgSerArgGlu;Gln1084_Glu1087delinsTrpArgThrHisArgAla;Pro1088_Gly1089insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084580"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3207,
          "referenceAllele": "",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_011517383.1:c.3170_3171insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515685.1:p.Arg1058GlnfsTer?",
        "hgvsWellDefined": "XP_011515685.1:p.[Arg1058_Leu1063delinsGlnAspGluGluArgSerThr;Gly1064_Arg1065insSer;Tyr1066_Gly1076delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1078_Asp1080delinsArgSerArgGlu;Gln1082_Glu1085delinsTrpArgThrHisArgAla;Pro1086_Gly1087insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084581"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3132,
          "referenceAllele": "",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_011517384.1:c.3095_3096insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515686.1:p.Arg1033GlnfsTer?",
        "hgvsWellDefined": "XP_011515686.1:p.[Arg1033_Leu1038delinsGlnAspGluGluArgSerThr;Gly1039_Arg1040insSer;Tyr1041_Gly1051delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1053_Asp1055delinsArgSerArgGlu;Gln1057_Glu1060delinsTrpArgThrHisArgAla;Pro1061_Gly1062insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084582"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 2326,
          "referenceAllele": "",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_011517385.1:c.2231_2232insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515687.1:p.Arg745GlnfsTer?",
        "hgvsWellDefined": "XP_011515687.1:p.[Arg745_Leu750delinsGlnAspGluGluArgSerThr;Gly751_Arg752insSer;Tyr753_Gly763delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met765_Asp767delinsArgSerArgGlu;Gln769_Glu772delinsTrpArgThrHisArgAla;Pro773_Gly774insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084583"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3352,
          "endIntronDirection": "+",
          "endIntronOffset": 133,
          "referenceAllele": "",
          "start": 3352,
          "startIntronDirection": "+",
          "startIntronOffset": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_928366.1:n.3352+133_3352+134insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124771"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3348,
          "referenceAllele": "",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_928367.1:n.3348_3349insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124772"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3241,
          "referenceAllele": "",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_928368.1:n.3241_3242insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124773"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3138,
          "referenceAllele": "",
          "start": 3138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_011517384.3:c.3095_3096insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515686.1:p.Arg1033GlnfsTer?",
        "hgvsWellDefined": "XP_011515686.1:p.[Arg1033_Leu1038delinsGlnAspGluGluArgSerThr;Gly1039_Arg1040insSer;Tyr1041_Gly1051delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1053_Asp1055delinsArgSerArgGlu;Gln1057_Glu1060delinsTrpArgThrHisArgAla;Pro1061_Gly1062insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544534"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3495,
          "referenceAllele": "",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013991.2:c.3458_3459insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869480.1:p.Arg1154GlnfsTer?",
        "hgvsWellDefined": "XP_016869480.1:p.[Arg1154_Leu1159delinsGlnAspGluGluArgSerThr;Gly1160_Arg1161insSer;Tyr1162_Gly1172delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1174_Asp1176delinsArgSerArgGlu;Gln1178_Glu1181delinsTrpArgThrHisArgAla;Pro1182_Gly1183insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567101"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3420,
          "referenceAllele": "",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013992.2:c.3383_3384insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869481.1:p.Arg1129GlnfsTer?",
        "hgvsWellDefined": "XP_016869481.1:p.[Arg1129_Leu1134delinsGlnAspGluGluArgSerThr;Gly1135_Arg1136insSer;Tyr1137_Gly1147delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1149_Asp1151delinsArgSerArgGlu;Gln1153_Glu1156delinsTrpArgThrHisArgAla;Pro1157_Gly1158insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567102"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3405,
          "referenceAllele": "",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013993.2:c.3368_3369insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869482.1:p.Arg1124GlnfsTer?",
        "hgvsWellDefined": "XP_016869482.1:p.[Arg1124_Leu1129delinsGlnAspGluGluArgSerThr;Gly1130_Arg1131insSer;Tyr1132_Gly1142delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1144_Asp1146delinsArgSerArgGlu;Gln1148_Glu1151delinsTrpArgThrHisArgAla;Pro1152_Gly1153insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567103"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3399,
          "referenceAllele": "",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013994.2:c.3362_3363insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869483.1:p.Arg1122GlnfsTer?",
        "hgvsWellDefined": "XP_016869483.1:p.[Arg1122_Leu1127delinsGlnAspGluGluArgSerThr;Gly1128_Arg1129insSer;Tyr1130_Gly1140delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1142_Asp1144delinsArgSerArgGlu;Gln1146_Glu1149delinsTrpArgThrHisArgAla;Pro1150_Gly1151insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567104"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3330,
          "referenceAllele": "",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013995.2:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869484.1:p.Arg1099GlnfsTer?",
        "hgvsWellDefined": "XP_016869484.1:p.[Arg1099_Leu1104delinsGlnAspGluGluArgSerThr;Gly1105_Arg1106insSer;Tyr1107_Gly1117delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1119_Asp1121delinsArgSerArgGlu;Gln1123_Glu1126delinsTrpArgThrHisArgAla;Pro1127_Gly1128insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567105"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3495,
          "referenceAllele": "",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013996.2:c.3458_3459insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869485.1:p.Arg1154GlnfsTer?",
        "hgvsWellDefined": "XP_016869485.1:p.[Arg1154_Leu1159delinsGlnAspGluGluArgSerThr;Gly1160_Arg1161insSer;Tyr1162_Gly1172delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1174_Asp1176delinsArgSerArgGlu;Gln1178_Glu1181delinsTrpArgThrHisArgAla;Pro1182_Gly1183insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567106"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3297,
          "referenceAllele": "",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013997.2:c.3260_3261insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869486.1:p.Arg1088GlnfsTer?",
        "hgvsWellDefined": "XP_016869486.1:p.[Arg1088_Leu1093delinsGlnAspGluGluArgSerThr;Gly1094_Arg1095insSer;Tyr1096_Gly1106delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1108_Asp1110delinsArgSerArgGlu;Gln1112_Glu1115delinsTrpArgThrHisArgAla;Pro1116_Gly1117insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567107"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3427,
          "referenceAllele": "",
          "start": 3427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013998.1:c.3383_3384insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869487.1:p.Arg1129GlnfsTer?",
        "hgvsWellDefined": "XP_016869487.1:p.[Arg1129_Leu1134delinsGlnAspGluGluArgSerThr;Gly1135_Arg1136insSer;Tyr1137_Gly1147delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1149_Asp1151delinsArgSerArgGlu;Gln1153_Glu1156delinsTrpArgThrHisArgAla;Pro1157_Gly1158insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567108"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3207,
          "referenceAllele": "",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017013999.2:c.3170_3171insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869488.1:p.Arg1058GlnfsTer?",
        "hgvsWellDefined": "XP_016869488.1:p.[Arg1058_Leu1063delinsGlnAspGluGluArgSerThr;Gly1064_Arg1065insSer;Tyr1066_Gly1076delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1078_Asp1080delinsArgSerArgGlu;Gln1082_Glu1085delinsTrpArgThrHisArgAla;Pro1086_Gly1087insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567109"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 2416,
          "referenceAllele": "",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017014000.1:c.2321_2322insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869489.1:p.Arg775GlnfsTer?",
        "hgvsWellDefined": "XP_016869489.1:p.[Arg775_Leu780delinsGlnAspGluGluArgSerThr;Gly781_Arg782insSer;Tyr783_Gly793delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met795_Asp797delinsArgSerArgGlu;Gln799_Glu802delinsTrpArgThrHisArgAla;Pro803_Gly804insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567110"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3305,
          "referenceAllele": "",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XM_017014001.2:c.2231_2232insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869490.1:p.Arg745GlnfsTer?",
        "hgvsWellDefined": "XP_016869490.1:p.[Arg745_Leu750delinsGlnAspGluGluArgSerThr;Gly751_Arg752insSer;Tyr753_Gly763delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met765_Asp767delinsArgSerArgGlu;Gln769_Glu772delinsTrpArgThrHisArgAla;Pro773_Gly774insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567111"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3438,
          "endIntronDirection": "+",
          "endIntronOffset": 133,
          "referenceAllele": "",
          "start": 3438,
          "startIntronDirection": "+",
          "startIntronOffset": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_001745626.2:n.3438+133_3438+134insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594114"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3434,
          "referenceAllele": "",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_001745627.2:n.3434_3435insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594115"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3325,
          "referenceAllele": "",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_001745628.2:n.3325_3326insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594116"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3188,
          "referenceAllele": "",
          "start": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_001745629.2:n.3188_3189insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594117"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 2990,
          "referenceAllele": "",
          "start": 2990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "XR_001745630.2:n.2990_2991insGCAGGATGAGGAGCGCAGCA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594118"
    },
    {
      "coordinates": [
        {
          "allele": "GCAGGATGAGGAGCGCAGCA",
          "end": 3342,
          "referenceAllele": "",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009949",
      "geneNCBI_id": 9401,
      "geneSymbol": "RECQL4",
      "hgvs": [
        "NM_004260.4:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
      ],
      "proteinEffect": {
        "hgvs": "NP_004251.4:p.Arg1099GlnfsTer?",
        "hgvsWellDefined": "NP_004251.4:p.[Arg1099_Leu1104delinsGlnAspGluGluArgSerThr;Gly1105_Arg1106insSer;Tyr1107_Gly1117delinsThrCysSerAlaAlaThrLeuArgLysArgLys;Met1119_Asp1121delinsArgSerArgGlu;Gln1123_Glu1126delinsTrpArgThrHisArgAla;Pro1127_Gly1128insSerGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617875.6:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
          },
          "RefSeq": {
            "hgvs": "NM_004260.4:c.3293_3294insGCAGGATGAGGAGCGCAGCA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000482313.2:p.Arg1099GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004251.4:p.Arg1099GlnfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}