{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265657889",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT (p.Leu718ProfsTer4)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 13947748,
          "referenceAllele": "",
          "start": 13947748
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947748_13947749insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
        "CM000678.2:g.13947748_13947749insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 14041605,
          "referenceAllele": "",
          "start": 14041605
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041605_14041606insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
        "CM000678.1:g.14041605_14041606insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 13949106,
          "referenceAllele": "",
          "start": 13949106
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949106_13949107insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 32592,
          "referenceAllele": "",
          "start": 32592
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32592_32593insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
        "LRG_463:g.32592_32593insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2318,
          "referenceAllele": "",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2290_2291insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Leu764ProfsTer4",
        "hgvsWellDefined": "ENSP00000507912.1:p.[Leu764_Thr765del;Glu767_Lys773del;Ile775_Ser789del;Cys791_Ser793del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2272,
          "referenceAllele": "",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1846_*1847insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1846_*1847insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2164,
          "referenceAllele": "",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu718ProfsTer4",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Leu718_Thr719del;Glu721_Lys727del;Ile729_Ser743del;Cys745_Ser747del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu718ProfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu718ProfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2161,
          "referenceAllele": "",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu718ProfsTer4",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Leu718_Thr719del;Glu721_Lys727del;Ile729_Ser743del;Cys745_Ser747del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 1429,
          "referenceAllele": "",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1429_1430insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 465,
          "referenceAllele": "",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.465_466insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.465_466insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2161,
          "referenceAllele": "",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
        "LRG_463t1:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu718ProfsTer4",
        "hgvsWellDefined": "NP_005227.1:p.[Leu718_Thr719del;Glu721_Lys727del;Ile729_Ser743del;Cys745_Ser747del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2311,
          "referenceAllele": "",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2290_2291insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu764ProfsTer4",
        "hgvsWellDefined": "XP_011520726.1:p.[Leu764_Thr765del;Glu767_Lys773del;Ile775_Ser789del;Cys791_Ser793del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2844,
          "referenceAllele": "",
          "start": 2844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1609_1610insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Leu537ProfsTer4",
        "hgvsWellDefined": "XP_011520727.1:p.[Leu537_Thr538del;Glu540_Lys546del;Ile548_Ser562del;Cys564_Ser566del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 1460,
          "referenceAllele": "",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1363_1364insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Leu455ProfsTer4",
        "hgvsWellDefined": "XP_011520728.1:p.[Leu455_Thr456del;Glu458_Lys464del;Ile466_Ser480del;Cys482_Ser484del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 1298,
          "referenceAllele": "",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.802_803insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Leu268ProfsTer4",
        "hgvsWellDefined": "XP_011520729.1:p.[Leu268_Thr269del;Glu271_Lys277del;Ile279_Ser293del;Cys295_Ser297del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2311,
          "referenceAllele": "",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2311_2312insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2319,
          "referenceAllele": "",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2290_2291insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu764ProfsTer4",
        "hgvsWellDefined": "XP_011520726.1:p.[Leu764_Thr765del;Glu767_Lys773del;Ile775_Ser789del;Cys791_Ser793del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2283,
          "referenceAllele": "",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1363_1364insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Leu455ProfsTer4",
        "hgvsWellDefined": "XP_016878532.1:p.[Leu455_Thr456del;Glu458_Lys464del;Ile466_Ser480del;Cys482_Ser484del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "CATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT",
          "end": 2164,
          "referenceAllele": "",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu718ProfsTer4",
        "hgvsWellDefined": "NP_005227.1:p.[Leu718_Thr719del;Glu721_Lys727del;Ile729_Ser743del;Cys745_Ser747del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2152_2153insCATCCCAATAGAATGTAAGCTCTTTCAAGGTATATATTTTTGCCTGTGTTTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu718ProfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu718ProfsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}