{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3265657893",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2304_2376del (p.Leu769PhefsTer24)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 13947972,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 13947899
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947900_13947972del",
        "CM000678.2:g.13947900_13947972del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 14041829,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 14041756
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041757_14041829del",
        "CM000678.1:g.14041757_14041829del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 13949330,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 13949257
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949258_13949330del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 32816,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 32743
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32744_32816del",
        "LRG_463:g.32744_32816del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2542,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2442_2514del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Leu815PhefsTer24",
        "hgvsWellDefined": "ENSP00000507912.1:p.[Leu815Phe;Arg818_Leu821delinsProAspTyrGly;Gln823_Ile825del;Ser827_Lys833delinsGlyAlaPro;Thr835del;Leu837_Pro842delinsMetGln;Leu844del;Ile846_Trp848delinsSer;Pro850_Glu857del;Phe859_Gln864delinsArg;Lys866_Gln868del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2496,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1998_*2070del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1998_*2070del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2388,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2304_2376del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu769PhefsTer24",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Leu769Phe;Arg772_Leu775delinsProAspTyrGly;Gln777_Ile779del;Ser781_Lys787delinsGlyAlaPro;Thr789del;Leu791_Pro796delinsMetGln;Leu798del;Ile800_Trp802delinsSer;Pro804_Glu811del;Phe813_Gln818delinsArg;Lys820_Gln822del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2304_2376del"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2304_2376del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu769PhefsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu769PhefsTer24"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2304_2376del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu769PhefsTer24",
        "hgvsWellDefined": "ENSP00000310520.7:p.[Leu769Phe;Arg772_Leu775delinsProAspTyrGly;Gln777_Ile779del;Ser781_Lys787delinsGlyAlaPro;Thr789del;Leu791_Pro796delinsMetGln;Leu798del;Ile800_Trp802delinsSer;Pro804_Glu811del;Phe813_Gln818delinsArg;Lys820_Gln822del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1653,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1581_1653del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 689,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.617_689del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.617_689del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2304_2376del",
        "LRG_463t1:c.2304_2376del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu769PhefsTer24",
        "hgvsWellDefined": "NP_005227.1:p.[Leu769Phe;Arg772_Leu775delinsProAspTyrGly;Gln777_Ile779del;Ser781_Lys787delinsGlyAlaPro;Thr789del;Leu791_Pro796delinsMetGln;Leu798del;Ile800_Trp802delinsSer;Pro804_Glu811del;Phe813_Gln818delinsArg;Lys820_Gln822del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2535,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2442_2514del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu815PhefsTer24",
        "hgvsWellDefined": "XP_011520726.1:p.[Leu815Phe;Arg818_Leu821delinsProAspTyrGly;Gln823_Ile825del;Ser827_Lys833delinsGlyAlaPro;Thr835del;Leu837_Pro842delinsMetGln;Leu844del;Ile846_Trp848delinsSer;Pro850_Glu857del;Phe859_Gln864delinsArg;Lys866_Gln868del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3068,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1761_1833del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Leu588PhefsTer24",
        "hgvsWellDefined": "XP_011520727.1:p.[Leu588Phe;Arg591_Leu594delinsProAspTyrGly;Gln596_Ile598del;Ser600_Lys606delinsGlyAlaPro;Thr608del;Leu610_Pro615delinsMetGln;Leu617del;Ile619_Trp621delinsSer;Pro623_Glu630del;Phe632_Gln637delinsArg;Lys639_Gln641del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1684,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1515_1587del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Leu506PhefsTer24",
        "hgvsWellDefined": "XP_011520728.1:p.[Leu506Phe;Arg509_Leu512delinsProAspTyrGly;Gln514_Ile516del;Ser518_Lys524delinsGlyAlaPro;Thr526del;Leu528_Pro533delinsMetGln;Leu535del;Ile537_Trp539delinsSer;Pro541_Glu548del;Phe550_Gln555delinsArg;Lys557_Gln559del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1522,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.954_1026del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Leu319PhefsTer24",
        "hgvsWellDefined": "XP_011520729.1:p.[Leu319Phe;Arg322_Leu325delinsProAspTyrGly;Gln327_Ile329del;Ser331_Lys337delinsGlyAlaPro;Thr339del;Leu341_Pro346delinsMetGln;Leu348del;Ile350_Trp352delinsSer;Pro354_Glu361del;Phe363_Gln368delinsArg;Lys370_Gln372del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2535,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2463_2535del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2543,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2442_2514del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu815PhefsTer24",
        "hgvsWellDefined": "XP_011520726.1:p.[Leu815Phe;Arg818_Leu821delinsProAspTyrGly;Gln823_Ile825del;Ser827_Lys833delinsGlyAlaPro;Thr835del;Leu837_Pro842delinsMetGln;Leu844del;Ile846_Trp848delinsSer;Pro850_Glu857del;Phe859_Gln864delinsArg;Lys866_Gln868del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2507,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1515_1587del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Leu506PhefsTer24",
        "hgvsWellDefined": "XP_016878532.1:p.[Leu506Phe;Arg509_Leu512delinsProAspTyrGly;Gln514_Ile516del;Ser518_Lys524delinsGlyAlaPro;Thr526del;Leu528_Pro533delinsMetGln;Leu535del;Ile537_Trp539delinsSer;Pro541_Glu548del;Phe550_Gln555delinsArg;Lys557_Gln559del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2388,
          "referenceAllele": "TCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCCAGCAATGACATTAGTTCCAAACTCACTCTTCTTACA",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2304_2376del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu769PhefsTer24",
        "hgvsWellDefined": "NP_005227.1:p.[Leu769Phe;Arg772_Leu775delinsProAspTyrGly;Gln777_Ile779del;Ser781_Lys787delinsGlyAlaPro;Thr789del;Leu791_Pro796delinsMetGln;Leu798del;Ile800_Trp802delinsSer;Pro804_Glu811del;Phe813_Gln818delinsArg;Lys820_Gln822del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2304_2376del"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2304_2376del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu769PhefsTer24"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu769PhefsTer24"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}