{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265657898",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2487_2563del (p.Ile831ArgfsTer15)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 13948159,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 13948082
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13948083_13948159del",
        "CM000678.2:g.13948083_13948159del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 14042016,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 14041939
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041940_14042016del",
        "CM000678.1:g.14041940_14042016del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 13949517,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 13949440
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949441_13949517del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 33003,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 32926
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32927_33003del",
        "LRG_463:g.32927_33003del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2729,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2625_2701del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Ile877ArgfsTer15",
        "hgvsWellDefined": "ENSP00000507912.1:p.[Ile877_Ser881delinsArgGly;Thr883_Glu888delinsCysGln;Tyr890_Asn891delinsLeu;Gly893_Phe897del;Lys900_Met901delinsAspAla;Gly903_Cys909del;Ser911_Leu930del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2683,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2181_*2257del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2181_*2257del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2575,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2487_2563del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ile831ArgfsTer15",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Ile831_Ser835delinsArgGly;Thr837_Glu842delinsCysGln;Tyr844_Asn845delinsLeu;Gly847_Phe851del;Lys854_Met855delinsAspAla;Gly857_Cys863del;Ser865_Leu884del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2487_2563del"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2487_2563del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ile831ArgfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ile831ArgfsTer15"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2572,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2487_2563del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Ile831ArgfsTer15",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Ile831_Ser835delinsArgGly;Thr837_Glu842delinsCysGln;Tyr844_Asn845delinsLeu;Gly847_Phe851del;Lys854_Met855delinsAspAla;Gly857_Cys863del;Ser865_Leu884del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1840,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1764_1840del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2572,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2487_2563del",
        "LRG_463t1:c.2487_2563del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ile831ArgfsTer15",
        "hgvsWellDefined": "NP_005227.1:p.[Ile831_Ser835delinsArgGly;Thr837_Glu842delinsCysGln;Tyr844_Asn845delinsLeu;Gly847_Phe851del;Lys854_Met855delinsAspAla;Gly857_Cys863del;Ser865_Leu884del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2722,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2625_2701del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ile877ArgfsTer15",
        "hgvsWellDefined": "XP_011520726.1:p.[Ile877_Ser881delinsArgGly;Thr883_Glu888delinsCysGln;Tyr890_Asn891delinsLeu;Gly893_Phe897del;Lys900_Met901delinsAspAla;Gly903_Cys909del;Ser911_Leu930del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3255,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 3178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1944_2020del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Ile650ArgfsTer15",
        "hgvsWellDefined": "XP_011520727.1:p.[Ile650_Ser654delinsArgGly;Thr656_Glu661delinsCysGln;Tyr663_Asn664delinsLeu;Gly666_Phe670del;Lys673_Met674delinsAspAla;Gly676_Cys682del;Ser684_Leu703del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1871,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1698_1774del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Ile568ArgfsTer15",
        "hgvsWellDefined": "XP_011520728.1:p.[Ile568_Ser572delinsArgGly;Thr574_Glu579delinsCysGln;Tyr581_Asn582delinsLeu;Gly584_Phe588del;Lys591_Met592delinsAspAla;Gly594_Cys600del;Ser602_Leu621del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1709,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1137_1213del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Ile381ArgfsTer15",
        "hgvsWellDefined": "XP_011520729.1:p.[Ile381_Ser385delinsArgGly;Thr387_Glu392delinsCysGln;Tyr394_Asn395delinsLeu;Gly397_Phe401del;Lys404_Met405delinsAspAla;Gly407_Cys413del;Ser415_Leu434del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2722,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2646_2722del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2730,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2625_2701del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Ile877ArgfsTer15",
        "hgvsWellDefined": "XP_011520726.1:p.[Ile877_Ser881delinsArgGly;Thr883_Glu888delinsCysGln;Tyr890_Asn891delinsLeu;Gly893_Phe897del;Lys900_Met901delinsAspAla;Gly903_Cys909del;Ser911_Leu930del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2694,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1698_1774del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Ile568ArgfsTer15",
        "hgvsWellDefined": "XP_016878532.1:p.[Ile568_Ser572delinsArgGly;Thr574_Glu579delinsCysGln;Tyr581_Asn582delinsLeu;Gly584_Phe588del;Lys591_Met592delinsAspAla;Gly594_Cys600del;Ser602_Leu621del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2575,
          "referenceAllele": "GGCCATTACAGCAGATTCTGAAACCCTTCCCGAGTCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAA",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2487_2563del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Ile831ArgfsTer15",
        "hgvsWellDefined": "NP_005227.1:p.[Ile831_Ser835delinsArgGly;Thr837_Glu842delinsCysGln;Tyr844_Asn845delinsLeu;Gly847_Phe851del;Lys854_Met855delinsAspAla;Gly857_Cys863del;Ser865_Leu884del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2487_2563del"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2487_2563del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Ile831ArgfsTer15"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Ile831ArgfsTer15"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}