{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2631831387",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2371_2373del (p.Leu791del)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2543196018",
        "rs": 2543196018
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13947962-CTCT-C?dataset=gnomad_r4",
        "id": "16-13947962-CTCT-C",
        "variant": "16:13947962 CTCT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 13947969,
          "referenceAllele": "CTT",
          "start": 13947966
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947967_13947969del",
        "CM000678.2:g.13947967_13947969del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 14041826,
          "referenceAllele": "CTT",
          "start": 14041823
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041824_14041826del",
        "CM000678.1:g.14041824_14041826del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 13949327,
          "referenceAllele": "CTT",
          "start": 13949324
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13949325_13949327del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 32813,
          "referenceAllele": "CTT",
          "start": 32810
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32811_32813del",
        "LRG_463:g.32811_32813del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2539,
          "referenceAllele": "CTT",
          "start": 2536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2509_2511del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Leu837del",
        "hgvsWellDefined": "ENSP00000507912.1:p.Leu837del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2493,
          "referenceAllele": "CTT",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*2065_*2067del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*2065_*2067del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "CTT",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2371_2373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu791del",
        "hgvsWellDefined": "ENSP00000310520.7:p.Leu791del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2371_2373del"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2371_2373del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu791del"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu791del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2382,
          "referenceAllele": "CTT",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2371_2373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Leu791del",
        "hgvsWellDefined": "ENSP00000310520.7:p.Leu791del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1650,
          "referenceAllele": "CTT",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1648_1650del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 686,
          "referenceAllele": "CTT",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.684_686del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.684_686del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083838238",
      "coordinates": [
        {
          "allele": "",
          "end": 2382,
          "referenceAllele": "CTT",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2371_2373del",
        "LRG_463t1:c.2371_2373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu791del",
        "hgvsWellDefined": "NP_005227.1:p.Leu791del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2532,
          "referenceAllele": "CTT",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2509_2511del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu837del",
        "hgvsWellDefined": "XP_011520726.1:p.Leu837del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3065,
          "referenceAllele": "CTT",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1828_1830del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Leu610del",
        "hgvsWellDefined": "XP_011520727.1:p.Leu610del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1681,
          "referenceAllele": "CTT",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1582_1584del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Leu528del",
        "hgvsWellDefined": "XP_011520728.1:p.Leu528del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1519,
          "referenceAllele": "CTT",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.1021_1023del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Leu341del",
        "hgvsWellDefined": "XP_011520729.1:p.Leu341del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2532,
          "referenceAllele": "CTT",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2530_2532del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2540,
          "referenceAllele": "CTT",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2509_2511del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Leu837del",
        "hgvsWellDefined": "XP_011520726.1:p.Leu837del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2504,
          "referenceAllele": "CTT",
          "start": 2501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1582_1584del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Leu528del",
        "hgvsWellDefined": "XP_016878532.1:p.Leu528del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083838238",
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "CTT",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2371_2373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Leu791del",
        "hgvsWellDefined": "NP_005227.1:p.Leu791del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2371_2373del"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2371_2373del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Leu791del"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Leu791del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}