{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2962742399",
  "communityStandardTitle": [
    "NM_000400.4(ERCC2):c.2176_2177del (p.Gln726AlafsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 45352225,
          "referenceAllele": "TG",
          "start": 45352223
        }
      ],
      "hgvs": [
        "NC_000019.10:g.45352224_45352225del",
        "CM000681.2:g.45352224_45352225del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 45855483,
          "referenceAllele": "TG",
          "start": 45855481
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45855482_45855483del",
        "CM000681.1:g.45855482_45855483del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 50547323,
          "referenceAllele": "TG",
          "start": 50547321
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50547322_50547323del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23366,
          "referenceAllele": "CA",
          "start": 23364
        }
      ],
      "hgvs": [
        "NG_007067.2:g.23365_23366del",
        "LRG_461:g.23365_23366del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000447"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2225,
          "referenceAllele": "CA",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.8:c.2176_2177del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.4:p.Gln726AlafsTer?",
        "hgvsWellDefined": "ENSP00000375808.4:p.[Gln726delinsAlaLeu;Phe728_Arg730delinsProGlyGluAlaCys;Arg732delinsProLeu;Ser735del;Arg738_Arg742delinsGlnAlaGluLeuLeu;Ser744_Lys749delinsGlnLysValProLeuAsp;Trp752_Pro755delinsHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2225,
          "referenceAllele": "CA",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682414.1:c.2176_2177del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507019.1:p.Gln726AlafsTer?",
        "hgvsWellDefined": "ENSP00000507019.1:p.[Gln726delinsAlaLeu;Phe728_Lys751delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile753_Gln755delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2206,
          "referenceAllele": "CA",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000682508.1:n.2205_2206del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827498"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2101,
          "referenceAllele": "CA",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684218.1:c.*1434_*1435del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507804.1:n.*1434_*1435del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829175"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1733,
          "referenceAllele": "CA",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684264.1:n.1732_1733del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829221"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2125,
          "referenceAllele": "CA",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684407.1:c.2053_2054del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507775.1:p.Gln685AlafsTer?",
        "hgvsWellDefined": "ENSP00000507775.1:p.[Gln685delinsAlaLeu;Phe687_Lys710delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile712_Gln714delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829362"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2091,
          "referenceAllele": "CA",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684458.1:c.*662_*663del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508260.1:n.*662_*663del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829412"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1889,
          "referenceAllele": "CA",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000684468.1:n.1888_1889del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829422"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2210,
          "referenceAllele": "CA",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.10:c.2176_2177del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.4:p.Gln726AlafsTer?",
        "hgvsWellDefined": "ENSP00000375809.4:p.[Gln726delinsAlaLeu;Phe728_Lys751delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile753_Gln755delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.2176_2177del"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.2176_2177del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Gln726AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Gln726AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2274,
          "referenceAllele": "CA",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000646507.1:n.2273_2274del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768913"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2858,
          "referenceAllele": "CA",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391941.6:c.2104_2105del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375805.2:p.Gln702AlafsTer?",
        "hgvsWellDefined": "ENSP00000375805.2:p.Gln702_Arg706delinsAlaLeuProPro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1348,
          "referenceAllele": "CA",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391942.6:n.1347_1348del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1990,
          "referenceAllele": "CA",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391944.7:c.1942_1943del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375808.3:p.Gln648AlafsTer?",
        "hgvsWellDefined": "ENSP00000375808.3:p.[Gln648delinsAlaLeu;Phe650_Lys673delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile675_Gln677delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274833"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2255,
          "referenceAllele": "CA",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000391945.8:c.2176_2177del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375809.3:p.Gln726AlafsTer?",
        "hgvsWellDefined": "ENSP00000375809.3:p.[Gln726delinsAlaLeu;Phe728_Lys751delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile753_Gln755delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274834"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2265,
          "referenceAllele": "CA",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "ENST00000588652.5:n.2264_2265del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390933"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2224,
          "referenceAllele": "CA",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.3:c.2176_2177del",
        "LRG_461t1:c.2176_2177del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Gln726AlafsTer?",
        "hgvsWellDefined": "NP_000391.1:p.[Gln726delinsAlaLeu;Phe728_Lys751delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile753_Gln755delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2205,
          "referenceAllele": "CA",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.1:c.2098_2099del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Gln700AlafsTer?",
        "hgvsWellDefined": "XP_011524913.1:p.[Gln700delinsAlaLeu;Phe702_Lys725delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile727_Gln729delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093713"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2206,
          "referenceAllele": "CA",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_011526611.2:c.2098_2099del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524913.1:p.Gln700AlafsTer?",
        "hgvsWellDefined": "XP_011524913.1:p.[Gln700delinsAlaLeu;Phe702_Lys725delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile727_Gln729delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2120,
          "referenceAllele": "CA",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.2053_2054del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Gln685AlafsTer?",
        "hgvsWellDefined": "XP_016881956.1:p.[Gln685delinsAlaLeu;Phe687_Lys710delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile712_Gln714delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2224,
          "referenceAllele": "CA",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.2223_2224del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2160,
          "referenceAllele": "CA",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.2159_2160del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2210,
          "referenceAllele": "CA",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.2176_2177del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Gln726AlafsTer?",
        "hgvsWellDefined": "NP_000391.1:p.[Gln726delinsAlaLeu;Phe728_Lys751delinsProGlyGlySerAlaGlyProValProAlaGlnProGlyAlaAlaArgIleArgGlyAspAlaGluGluAsp;Ile753_Gln755delinsAlaAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.2176_2177del"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.2176_2177del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Gln726AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Gln726AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}