{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251391",
  "communityStandardTitle": [
    "NM_004628.5(XPC):c.1292_1293del (p.Lys431ArgfsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15295[alleleid]",
        "alleleId": 15295,
        "preferredName": "NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/256",
        "RCV": [
          "RCV000000280"
        ],
        "variationId": 256
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.14200090_14200091del?assembly=hg19",
        "id": "chr3:g.14200090_14200091del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.14158590_14158591del?assembly=hg38",
        "id": "chr3:g.14158590_14158591del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794729654",
        "rs": 794729654
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-14158589-CTT-C?dataset=gnomad_r4",
        "id": "3-14158589-CTT-C",
        "variant": "3:14158589 CTT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 14158592,
          "referenceAllele": "TT",
          "start": 14158590
        }
      ],
      "hgvs": [
        "NC_000003.12:g.14158591_14158592del",
        "CM000665.2:g.14158591_14158592del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 14200092,
          "referenceAllele": "TT",
          "start": 14200090
        }
      ],
      "hgvs": [
        "NC_000003.11:g.14200091_14200092del",
        "CM000665.1:g.14200091_14200092del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 14175096,
          "referenceAllele": "TT",
          "start": 14175094
        }
      ],
      "hgvs": [
        "NC_000003.10:g.14175095_14175096del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 25083,
          "referenceAllele": "AA",
          "start": 25081
        }
      ],
      "hgvs": [
        "NG_011763.1:g.25082_25083del",
        "LRG_472:g.25082_25083del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001956"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.12:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.8:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "ENSP00000285021.8:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.1292_1293del"
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.1292_1293del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:p.Lys431ArgfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:p.Lys431ArgfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1508,
          "referenceAllele": "AA",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000285021.11:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285021.7:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "ENSP00000285021.7:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253275"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1202,
          "referenceAllele": "AA",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "ENST00000476581.6:c.*745_*746del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424548.1:n.*745_*746del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317599"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1397,
          "referenceAllele": "AA",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.4:c.1292_1293del",
        "LRG_472t1:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "NP_004619.3:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029783"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1273,
          "referenceAllele": "AA",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_027299.1:n.1272_1273del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047665"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1354,
          "referenceAllele": "AA",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XM_011534092.1:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532394.1:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "XP_011532394.1:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101110"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1354,
          "referenceAllele": "AA",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XM_011534093.1:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532395.1:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "XP_011532395.1:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101111"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1273,
          "referenceAllele": "AA",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.1:c.713_714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:p.Lys238ArgfsTer6",
        "hgvsWellDefined": "NP_001341655.1:p.[Lys238_Ser241delinsArg;Ser243_Asp244del;Ala246_Ser267delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522642"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1397,
          "referenceAllele": "AA",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.1:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "NP_001341656.1:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522643"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1379,
          "referenceAllele": "AA",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.1:c.1274_1275del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:p.Lys425ArgfsTer6",
        "hgvsWellDefined": "NP_001341658.1:p.[Lys425_Ser428delinsArg;Ser430_Asp431del;Ala433_Ser454delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522644"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1397,
          "referenceAllele": "AA",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.1:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "NP_001341659.1:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522645"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1397,
          "referenceAllele": "AA",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.1:n.1396_1397del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531398"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1273,
          "referenceAllele": "AA",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.1:n.1272_1273del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531399"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_001740256.2:n.1325_1326del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590467"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959580.1:n.1325_1326del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605512"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "XR_002959581.1:n.1325_1326del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354727.2:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341656.1:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "NP_001341656.1:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690308"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_004628.5:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004619.3:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "NP_004619.3:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285021.12:c.1292_1293del"
          },
          "RefSeq": {
            "hgvs": "NM_004628.5:c.1292_1293del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285021.8:p.Lys431ArgfsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_004619.3:p.Lys431ArgfsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148950.2:n.1325_1326del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704894"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1202,
          "referenceAllele": "AA",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NR_148951.2:n.1201_1202del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1202,
          "referenceAllele": "AA",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354726.2:c.713_714del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341655.1:p.Lys238ArgfsTer6",
        "hgvsWellDefined": "NP_001341655.1:p.[Lys238_Ser241delinsArg;Ser243_Asp244del;Ala246_Ser267delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720554"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1308,
          "referenceAllele": "AA",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354729.2:c.1274_1275del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341658.1:p.Lys425ArgfsTer6",
        "hgvsWellDefined": "NP_001341658.1:p.[Lys425_Ser428delinsArg;Ser430_Asp431del;Ala433_Ser454delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1326,
          "referenceAllele": "AA",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012816",
      "geneNCBI_id": 7508,
      "geneSymbol": "XPC",
      "hgvs": [
        "NM_001354730.2:c.1292_1293del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341659.1:p.Lys431ArgfsTer6",
        "hgvsWellDefined": "NP_001341659.1:p.[Lys431_Ser434delinsArg;Ser436_Asp437del;Ala439_Ser460delinsTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720556"
    }
  ],
  "type": "nucleotide"
}