{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645293791",
  "communityStandardTitle": [
    "NM_020247.5(COQ8A):c.1007del (p.Phe336SerfsTer14)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227211[alleleid]",
        "alleleId": 227211,
        "preferredName": "NM_020247.5(COQ8A):c.1007del (p.Phe336fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225294",
        "RCV": [
          "RCV000490281"
        ],
        "variationId": 225294
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.227170662del?assembly=hg19",
        "id": "chr1:g.227170662del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.226982961del?assembly=hg38",
        "id": "chr1:g.226982961del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307053",
        "rs": 1085307053
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 226982961,
          "referenceAllele": "T",
          "start": 226982960
        }
      ],
      "hgvs": [
        "NC_000001.11:g.226982961del",
        "CM000663.2:g.226982961del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 227170662,
          "referenceAllele": "T",
          "start": 227170661
        }
      ],
      "hgvs": [
        "NC_000001.10:g.227170662del",
        "CM000663.1:g.227170662del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 225237285,
          "referenceAllele": "T",
          "start": 225237284
        }
      ],
      "hgvs": [
        "NC_000001.9:g.225237285del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 47725,
          "referenceAllele": "T",
          "start": 47724
        }
      ],
      "hgvs": [
        "NG_012825.1:g.47725del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002558"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 90426,
          "referenceAllele": "T",
          "start": 90425
        }
      ],
      "hgvs": [
        "NG_012825.2:g.90426del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616187"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366777.4:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355739.3:p.Phe336SerfsTer14",
        "hgvsWellDefined": "ENSP00000355739.3:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366777.4:c.1007del"
          },
          "RefSeq": {
            "hgvs": "NM_020247.5:c.1007del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355739.3:p.Phe336SerfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_064632.2:p.Phe336SerfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7752,
          "referenceAllele": "T",
          "start": 7751
        }
      ],
      "hgvs": [
        "ENST00000366779.6:c.*5734del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355741.2:n.*5734del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749850"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7874,
          "referenceAllele": "T",
          "start": 7873
        }
      ],
      "hgvs": [
        "ENST00000676884.1:c.*5856del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503200.1:n.*5856del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366777.3:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355739.3:p.Phe336SerfsTer14",
        "hgvsWellDefined": "ENSP00000355739.3:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 999,
          "referenceAllele": "T",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366778.5:c.851del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355740.1:p.Phe284SerfsTer14",
        "hgvsWellDefined": "ENSP00000355740.1:p.[Phe284_Ala287del;Ile289_His293delinsProProHisPro;Ala295_Lys298del;Gly300del;Glu302_Tyr309delinsCysThrTrp;Gly311_Ala313delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3778,
          "referenceAllele": "T",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000366779.5:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355741.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "ENSP00000355741.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000478406.5:n.986del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319022"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 397,
          "referenceAllele": "T",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "ENST00000485462.5:n.397del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324484"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1179,
          "referenceAllele": "T",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "NM_020247.4:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "NP_064632.2:p.Phe336SerfsTer14",
        "hgvsWellDefined": "NP_064632.2:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036294"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1075,
          "referenceAllele": "T",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_005273201.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273258.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_005273258.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067484"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1271,
          "referenceAllele": "T",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544238.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542540.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_011542540.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111150"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1194,
          "referenceAllele": "T",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544239.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542541.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_011542541.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111151"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1213,
          "referenceAllele": "T",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544240.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542542.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_011542542.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1180,
          "referenceAllele": "T",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544241.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542543.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_011542543.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111153"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1294,
          "referenceAllele": "T",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544239.2:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542541.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_011542541.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1050,
          "referenceAllele": "T",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_011544241.2:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542543.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_011542543.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_017001852.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857341.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_016857341.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557917"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1221,
          "referenceAllele": "T",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_024448517.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304285.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_024304285.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582088"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1193,
          "referenceAllele": "T",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "XM_024448518.1:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304286.1:p.Phe336SerfsTer14",
        "hgvsWellDefined": "XP_024304286.1:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582089"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1122,
          "referenceAllele": "T",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016812",
      "geneNCBI_id": 56997,
      "geneSymbol": "COQ8A",
      "hgvs": [
        "NM_020247.5:c.1007del"
      ],
      "proteinEffect": {
        "hgvs": "NP_064632.2:p.Phe336SerfsTer14",
        "hgvsWellDefined": "NP_064632.2:p.[Phe336_Ala339del;Ile341_His345delinsProProHisPro;Ala347_Lys350del;Gly352del;Glu354_Tyr361delinsCysThrTrp;Gly363_Ala365delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366777.4:c.1007del"
          },
          "RefSeq": {
            "hgvs": "NM_020247.5:c.1007del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355739.3:p.Phe336SerfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_064632.2:p.Phe336SerfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}