{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265657887",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC (p.Glu707ValfsTer26)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 13947713,
          "referenceAllele": "",
          "start": 13947713
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947713_13947714insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
        "CM000678.2:g.13947713_13947714insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 14041570,
          "referenceAllele": "",
          "start": 14041570
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041570_14041571insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
        "CM000678.1:g.14041570_14041571insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 13949071,
          "referenceAllele": "",
          "start": 13949071
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949071_13949072insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 32557,
          "referenceAllele": "",
          "start": 32557
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32557_32558insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
        "LRG_463:g.32557_32558insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2283,
          "referenceAllele": "",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2255_2256insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Glu753ValfsTer26",
        "hgvsWellDefined": "ENSP00000507912.1:p.[Glu753_Pro754del;Thr756_Ser774delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser776_Asp777delinsPhe;Ile779_Ser781delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2237,
          "referenceAllele": "",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1811_*1812insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1811_*1812insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2129,
          "referenceAllele": "",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Glu707ValfsTer26",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Glu707_Pro708del;Thr710_Ser728delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser730_Asp731delinsPhe;Ile733_Ser735delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Glu707ValfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Glu707ValfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2126,
          "referenceAllele": "",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Glu707ValfsTer26",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Glu707_Pro708del;Thr710_Ser728delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser730_Asp731delinsPhe;Ile733_Ser735delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 1394,
          "referenceAllele": "",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1394_1395insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 430,
          "referenceAllele": "",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.430_431insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.430_431insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2126,
          "referenceAllele": "",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
        "LRG_463t1:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Glu707ValfsTer26",
        "hgvsWellDefined": "NP_005227.1:p.[Glu707_Pro708del;Thr710_Ser728delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser730_Asp731delinsPhe;Ile733_Ser735delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2276,
          "referenceAllele": "",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2255_2256insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Glu753ValfsTer26",
        "hgvsWellDefined": "XP_011520726.1:p.[Glu753_Pro754del;Thr756_Ser774delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser776_Asp777delinsPhe;Ile779_Ser781delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2809,
          "referenceAllele": "",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1574_1575insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Glu526ValfsTer26",
        "hgvsWellDefined": "XP_011520727.1:p.[Glu526_Pro527del;Thr529_Ser547delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser549_Asp550delinsPhe;Ile552_Ser554delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 1425,
          "referenceAllele": "",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1328_1329insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Glu444ValfsTer26",
        "hgvsWellDefined": "XP_011520728.1:p.[Glu444_Pro445del;Thr447_Ser465delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser467_Asp468delinsPhe;Ile470_Ser472delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 1263,
          "referenceAllele": "",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.767_768insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Glu257ValfsTer26",
        "hgvsWellDefined": "XP_011520729.1:p.[Glu257_Pro258del;Thr260_Ser278delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser280_Asp281delinsPhe;Ile283_Ser285delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2276,
          "referenceAllele": "",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2276_2277insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2284,
          "referenceAllele": "",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2255_2256insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Glu753ValfsTer26",
        "hgvsWellDefined": "XP_011520726.1:p.[Glu753_Pro754del;Thr756_Ser774delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser776_Asp777delinsPhe;Ile779_Ser781delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2248,
          "referenceAllele": "",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1328_1329insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Glu444ValfsTer26",
        "hgvsWellDefined": "XP_016878532.1:p.[Glu444_Pro445del;Thr447_Ser465delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser467_Asp468delinsPhe;Ile470_Ser472delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "AGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC",
          "end": 2129,
          "referenceAllele": "",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Glu707ValfsTer26",
        "hgvsWellDefined": "NP_005227.1:p.[Glu707_Pro708del;Thr710_Ser728delinsSerTyrMetIlePhePheHisPheAsnLysLysLeuTyrThrIlePheLeuThrMet;Ser730_Asp731delinsPhe;Ile733_Ser735delinsAsnPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2117_2118insAGTTTCTTACATGATTTTTTTTCATTTTAATAAAAAACTATATACTATTTTTTTAACTATGATTTTTC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Glu707ValfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Glu707ValfsTer26"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}