{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043474",
  "communityStandardTitle": [
    "NM_000123.4(ERCC5):c.2929_2930del (p.Leu977ValfsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360951[alleleid]",
        "alleleId": 360951,
        "preferredName": "NM_000123.4(ERCC5):c.2929_2930del (p.Leu977fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373982",
        "RCV": [
          "RCV000415130"
        ],
        "variationId": 373982
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103525658_103525659del?assembly=hg19",
        "id": "chr13:g.103525658_103525659del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.103525655_103525656del?assembly=hg19",
        "id": "chr13:g.103525655_103525656del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.102873308_102873309del?assembly=hg38",
        "id": "chr13:g.102873308_102873309del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.102873305_102873306del?assembly=hg38",
        "id": "chr13:g.102873305_102873306del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518813",
        "rs": 1057518813
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-102873304-ATC-A?dataset=gnomad_r4",
        "id": "13-102873304-ATC-A",
        "variant": "13:102873304 ATC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 102873309,
          "referenceAllele": "CT",
          "start": 102873307
        }
      ],
      "hgvs": [
        "NC_000013.11:g.102873308_102873309del",
        "CM000675.2:g.102873308_102873309del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 103525659,
          "referenceAllele": "CT",
          "start": 103525657
        }
      ],
      "hgvs": [
        "NC_000013.10:g.103525658_103525659del",
        "CM000675.1:g.103525658_103525659del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 102323660,
          "referenceAllele": "CT",
          "start": 102323658
        }
      ],
      "hgvs": [
        "NC_000013.9:g.102323659_102323660del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 32486,
          "referenceAllele": "CT",
          "start": 32484
        }
      ],
      "hgvs": [
        "NG_007146.1:g.32485_32486del",
        "LRG_464:g.32485_32486del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000499"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4031,
          "referenceAllele": "CT",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682632.1:n.4030_4031del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827621"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3579,
          "referenceAllele": "CT",
          "start": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000682869.1:n.3578_3579del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827857"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4567,
          "referenceAllele": "CT",
          "start": 4565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000683246.1:n.4566_4567del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828228"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3160,
          "referenceAllele": "CT",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000683642.1:n.3159_3160del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828613"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4476,
          "referenceAllele": "CT",
          "start": 4474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639132.1:c.3604_3605del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492684.1:p.Leu1202ValfsTer17",
        "hgvsWellDefined": "ENSP00000492684.1:p.[Leu1202_Leu1206delinsValSerCysIle;Gln1208_Asp1210del;Gln1212_Gln1213del;Gln1215_Ile1218delinsArgCysProAla;Ser1220_Leu1224delinsThr;Gln1226_Asp1231delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4910,
          "referenceAllele": "CT",
          "start": 4908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "ENST00000639435.1:c.4291_4292del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491742.1:p.Leu1431ValfsTer17",
        "hgvsWellDefined": "ENSP00000491742.1:p.[Leu1431_Leu1435delinsValSerCysIle;Gln1437_Asp1439del;Gln1441_Gln1442del;Gln1444_Ile1447delinsArgCysProAla;Ser1449_Leu1453delinsThr;Gln1455_Asp1460delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765025"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3511,
          "referenceAllele": "CT",
          "start": 3509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651002.1:c.*2690_*2691del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498809.1:n.*2690_*2691del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771415"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3057,
          "referenceAllele": "CT",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651055.1:n.3056_3057del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771443"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3298,
          "referenceAllele": "CT",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651281.1:n.3297_3298del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771574"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2414,
          "referenceAllele": "CT",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651387.1:n.2413_2414del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2876,
          "referenceAllele": "CT",
          "start": 2874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000651470.1:c.*101_*102del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498701.1:n.*101_*102del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771686"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3165,
          "referenceAllele": "CT",
          "start": 3163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652225.2:c.2929_2930del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498881.2:p.Leu977ValfsTer17",
        "hgvsWellDefined": "ENSP00000498881.2:p.[Leu977_Leu981delinsValSerCysIle;Gln983_Asp985del;Gln987_Gln988del;Gln990_Ile993delinsArgCysProAla;Ser995_Leu999delinsThr;Gln1001_Asp1006delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.2929_2930del"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.2929_2930del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:p.Leu977ValfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:p.Leu977ValfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3323,
          "referenceAllele": "CT",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000652613.1:c.2425_2426del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498357.1:p.Leu809ValfsTer17",
        "hgvsWellDefined": "ENSP00000498357.1:p.[Leu809_Leu813delinsValSerCysIle;Gln815_Asp817del;Gln819_Gln820del;Gln822_Ile825delinsArgCysProAla;Ser827_Leu831delinsThr;Gln833_Asp838delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4353,
          "referenceAllele": "CT",
          "start": 4351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000355739.8:c.2929_2930del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347978.4:p.Leu977ValfsTer17",
        "hgvsWellDefined": "ENSP00000347978.4:p.[Leu977_Leu981delinsValSerCysIle;Gln983_Asp985del;Gln987_Gln988del;Gln990_Ile993delinsArgCysProAla;Ser995_Leu999delinsThr;Gln1001_Asp1006delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263535"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2275,
          "referenceAllele": "CT",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000375954.1:c.628_629del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365121.1:p.Leu210ValfsTer17",
        "hgvsWellDefined": "ENSP00000365121.1:p.[Leu210_Leu214delinsValSerCysIle;Gln216_Asp218del;Gln220_Gln221del;Gln223_Ile226delinsArgCysProAla;Ser228_Leu232delinsThr;Gln234_Asp239delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2937,
          "referenceAllele": "CT",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "ENST00000610537.4:c.2926_2927del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478667.1:p.Leu976ValfsTer17",
        "hgvsWellDefined": "ENSP00000478667.1:p.[Leu976_Leu980delinsValSerCysIle;Gln982_Asp984del;Gln986_Gln987del;Gln989_Ile992delinsArgCysProAla;Ser994_Leu998delinsThr;Gln1000_Asp1005delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400463"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3356,
          "referenceAllele": "CT",
          "start": 3354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.3:c.2929_2930del",
        "LRG_464t1:c.2929_2930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.2:p.Leu977ValfsTer17",
        "hgvsWellDefined": "NP_000114.2:p.[Leu977_Leu981delinsValSerCysIle;Gln983_Asp985del;Gln987_Gln988del;Gln990_Ile993delinsArgCysProAla;Ser995_Leu999delinsThr;Gln1001_Asp1006delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006185"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4414,
          "referenceAllele": "CT",
          "start": 4412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.1:c.4291_4292del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.1:p.Leu1431ValfsTer17",
        "hgvsWellDefined": "NP_001191354.1:p.[Leu1431_Leu1435delinsValSerCysIle;Gln1437_Asp1439del;Gln1441_Gln1442del;Gln1444_Ile1447delinsArgCysProAla;Ser1449_Leu1453delinsThr;Gln1455_Asp1460delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3165,
          "referenceAllele": "CT",
          "start": 3163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.4:c.2929_2930del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.3:p.Leu977ValfsTer17",
        "hgvsWellDefined": "NP_000114.3:p.[Leu977_Leu981delinsValSerCysIle;Gln983_Asp985del;Gln987_Gln988del;Gln990_Ile993delinsArgCysProAla;Ser995_Leu999delinsThr;Gln1001_Asp1006delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.2929_2930del"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.2929_2930del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:p.Leu977ValfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:p.Leu977ValfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4414,
          "referenceAllele": "CT",
          "start": 4412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.2:c.4291_4292del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.2:p.Leu1431ValfsTer17",
        "hgvsWellDefined": "NP_001191354.2:p.[Leu1431_Leu1435delinsValSerCysIle;Gln1437_Asp1439del;Gln1441_Gln1442del;Gln1444_Ile1447delinsArgCysProAla;Ser1449_Leu1453delinsThr;Gln1455_Asp1460delinsProAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679846"
    }
  ],
  "type": "nucleotide"
}