{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274708",
  "communityStandardTitle": [
    "NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203ArgfsTer33)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187991[alleleid]",
        "alleleId": 187991,
        "preferredName": "NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190168",
        "RCV": [
          "RCV000170387",
          "RCV000671320",
          "RCV001092478"
        ],
        "variationId": 190168
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.50678398_50678399insTAAGGTGGACCTTAAGCAGCCAGCCC?assembly=hg19",
        "id": "chr10:g.50678398_50678399insTAAGGTGGACCTTAAGCAGCCAGCCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.49470352_49470353insTAAGGTGGACCTTAAGCAGCCAGCCC?assembly=hg38",
        "id": "chr10:g.49470352_49470353insTAAGGTGGACCTTAAGCAGCCAGCCC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205172",
        "rs": 786205172
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-49470352-T-TTAAGGTGGACCTTAAGCAGCCAGCCC?dataset=gnomad_r3",
        "id": "10-49470352-T-TTAAGGTGGACCTTAAGCAGCCAGCCC",
        "variant": "10:49470352 T / TTAAGGTGGACCTTAAGCAGCCAGCCC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-49470352-T-TTAAGGTGGACCTTAAGCAGCCAGCCC?dataset=gnomad_r4",
        "id": "10-49470352-T-TTAAGGTGGACCTTAAGCAGCCAGCCC",
        "variant": "10:49470352 T / TTAAGGTGGACCTTAAGCAGCCAGCCC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AAGGTGGACCTTAAGCAGCCAGCCCT",
          "end": 49470353,
          "referenceAllele": "",
          "start": 49470353
        }
      ],
      "hgvs": [
        "NC_000010.11:g.49470353_49470354insAAGGTGGACCTTAAGCAGCCAGCCCT",
        "CM000672.2:g.49470353_49470354insAAGGTGGACCTTAAGCAGCCAGCCCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AAGGTGGACCTTAAGCAGCCAGCCCT",
          "end": 50678399,
          "referenceAllele": "",
          "start": 50678399
        }
      ],
      "hgvs": [
        "NC_000010.10:g.50678399_50678400insAAGGTGGACCTTAAGCAGCCAGCCCT",
        "CM000672.1:g.50678399_50678400insAAGGTGGACCTTAAGCAGCCAGCCCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "AAGGTGGACCTTAAGCAGCCAGCCCT",
          "end": 50348405,
          "referenceAllele": "",
          "start": 50348405
        }
      ],
      "hgvs": [
        "NC_000010.9:g.50348405_50348406insAAGGTGGACCTTAAGCAGCCAGCCCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 73749,
          "referenceAllele": "",
          "start": 73749
        }
      ],
      "hgvs": [
        "NG_009442.1:g.73749_73750insGGGCTGGCTGCTTAAGGTCCACCTTA",
        "LRG_465:g.73749_73750insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001594"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 3781,
          "referenceAllele": "",
          "start": 3781
        }
      ],
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      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.10:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000348089.5:p.[Lys1203_Asn1208delinsArgAlaGlyCysLeuArg;Ser1209_Lys1210insThrLeuSer;His1211_Cys1212delinsSerLeu;Asp1214_Gly1219delinsThrLeuSerIleAlaGlu;Arg1221_Ile1222del;His1224Ser;Val1226_Gln1232delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Lys1203ArgfsTer33"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Lys1203ArgfsTer33"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 678,
          "referenceAllele": "",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000679552.1:n.678_679insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779181"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 753,
          "referenceAllele": "",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000679871.1:n.753_754insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779493"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 656,
          "referenceAllele": "",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000679974.1:n.656_657insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779596"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 5010,
          "referenceAllele": "",
          "start": 5010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681632.1:n.5010_5011insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781238"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 3552,
          "referenceAllele": "",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000681659.1:c.3448_3449insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505631.1:p.Lys1150ArgfsTer33",
        "hgvsWellDefined": "ENSP00000505631.1:p.[Lys1150_Asn1155delinsArgAlaGlyCysLeuArg;Ser1156_Lys1157insThrLeuSer;His1158_Cys1159delinsSerLeu;Asp1161_Gly1166delinsThrLeuSerIleAlaGlu;Arg1168_Ile1169del;His1171Ser;Val1173_Gln1179delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781265"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 3686,
          "referenceAllele": "",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000355832.9:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348089.5:p.Lys1203ArgfsTer33",
        "hgvsWellDefined": "ENSP00000348089.5:p.[Lys1203_Asn1208delinsArgAlaGlyCysLeuArg;Ser1209_Lys1210insThrLeuSer;His1211_Cys1212delinsSerLeu;Asp1214_Gly1219delinsThrLeuSerIleAlaGlu;Arg1221_Ile1222del;His1224Ser;Val1226_Gln1232delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263566"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 7991,
          "referenceAllele": "",
          "start": 7991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623073.3:c.*1903_*1904insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485650.1:n.*1903_*1904insGGGCTGGCTGCTTAAGGTCCACCTTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405990"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 2030,
          "referenceAllele": "",
          "start": 2030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000623115.3:c.1717_1718insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485321.1:p.Lys573ArgfsTer33",
        "hgvsWellDefined": "ENSP00000485321.1:p.[Lys573_Asn578delinsArgAlaGlyCysLeuArg;Ser579_Lys580insThrLeuSer;His581_Cys582delinsSerLeu;Asp584_Gly589delinsThrLeuSerIleAlaGlu;Arg591_Ile592del;His594Ser;Val596_Gln602delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405998"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 1439,
          "referenceAllele": "",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "ENST00000624341.3:c.1439_1440insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406305"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 3783,
          "referenceAllele": "",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.3:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Lys1203ArgfsTer33",
        "hgvsWellDefined": "NP_000115.1:p.[Lys1203_Asn1208delinsArgAlaGlyCysLeuArg;Ser1209_Lys1210insThrLeuSer;His1211_Cys1212delinsSerLeu;Asp1214_Gly1219delinsThrLeuSerIleAlaGlu;Arg1221_Ile1222del;His1224Ser;Val1226_Gln1232delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006186"
    },
    {
      "coordinates": [
        {
          "allele": "AAGGTGGACCTTAAGCAGCCAGCCCT",
          "end": 242,
          "endIntronDirection": "-",
          "endIntronOffset": 1211,
          "referenceAllele": "",
          "start": 242,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "hgvs": [
        "XR_945953.1:n.243-1212_243-1211insAAGGTGGACCTTAAGCAGCCAGCCCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139541"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 3779,
          "referenceAllele": "",
          "start": 3779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.1:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Lys1203ArgfsTer33",
        "hgvsWellDefined": "NP_001333369.1:p.[Lys1203_Asn1208delinsArgAlaGlyCysLeuArg;Ser1209_Lys1210insThrLeuSer;His1211_Cys1212delinsSerLeu;Asp1214_Gly1219delinsThrLeuSerIleAlaGlu;Arg1221_Ile1222del;His1224Ser;Val1226_Gln1232delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517542"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 3781,
          "referenceAllele": "",
          "start": 3781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_000124.4:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000115.1:p.Lys1203ArgfsTer33",
        "hgvsWellDefined": "NP_000115.1:p.[Lys1203_Asn1208delinsArgAlaGlyCysLeuArg;Ser1209_Lys1210insThrLeuSer;His1211_Cys1212delinsSerLeu;Asp1214_Gly1219delinsThrLeuSerIleAlaGlu;Arg1221_Ile1222del;His1224Ser;Val1226_Gln1232delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355832.10:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
          },
          "RefSeq": {
            "hgvs": "NM_000124.4:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348089.5:p.Lys1203ArgfsTer33"
          },
          "RefSeq": {
            "hgvs": "NP_000115.1:p.Lys1203ArgfsTer33"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGGCTGGCTGCTTAAGGTCCACCTTA",
          "end": 3777,
          "referenceAllele": "",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
        "NM_001346440.2:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333369.1:p.Lys1203ArgfsTer33",
        "hgvsWellDefined": "NP_001333369.1:p.[Lys1203_Asn1208delinsArgAlaGlyCysLeuArg;Ser1209_Lys1210insThrLeuSer;His1211_Cys1212delinsSerLeu;Asp1214_Gly1219delinsThrLeuSerIleAlaGlu;Arg1221_Ile1222del;His1224Ser;Val1226_Gln1232delinsLysGluLeuGluPheHisThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718939"
    }
  ],
  "type": "nucleotide"
}