{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA746341240",
  "communityStandardTitle": [
    "NM_003185.4(TAF4):c.296del (p.Gly99AlafsTer28)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1517484[alleleid]",
        "alleleId": 1517484,
        "preferredName": "NM_003185.4(TAF4):c.296del (p.Gly99fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1526080",
        "RCV": [
          "RCV002052100"
        ],
        "variationId": 1526080
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.60640571del?assembly=hg19",
        "id": "chr20:g.60640571del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62065515del?assembly=hg38",
        "id": "chr20:g.62065515del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1180230428",
        "rs": 1180230428
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62065514-GC-G?dataset=gnomad_r3",
        "id": "20-62065514-GC-G",
        "variant": "20:62065514 GC / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62065514-GC-G?dataset=gnomad_r4",
        "id": "20-62065514-GC-G",
        "variant": "20:62065514 GC / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 62065520,
          "referenceAllele": "C",
          "start": 62065519
        }
      ],
      "hgvs": [
        "NC_000020.11:g.62065520del",
        "CM000682.2:g.62065520del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 60640576,
          "referenceAllele": "C",
          "start": 60640575
        }
      ],
      "hgvs": [
        "NC_000020.10:g.60640576del",
        "CM000682.1:g.60640576del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 60073971,
          "referenceAllele": "C",
          "start": 60073970
        }
      ],
      "hgvs": [
        "NC_000020.9:g.60073971del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011537",
      "geneNCBI_id": 6874,
      "geneSymbol": "TAF4",
      "hgvs": [
        "ENST00000252996.9:c.296del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252996.3:p.Gly99AlafsTer28",
        "hgvsWellDefined": "ENSP00000252996.3:p.[Gly99Ala;Pro102_Gly106delinsArgSerAlaArgAla;Ser109_Arg112delinsHisArgAlaAla;Val115Ser;Ala117Gln;Ala120_Pro121delinsArgArg;Ala123_Leu126delinsPro;Pro128Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252996.9:c.296del"
          },
          "RefSeq": {
            "hgvs": "NM_003185.4:c.296del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252996.3:p.Gly99AlafsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_003176.2:p.Gly99AlafsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011537",
      "geneNCBI_id": 6874,
      "geneSymbol": "TAF4",
      "hgvs": [
        "ENST00000252996.8:c.296del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252996.3:p.Gly99AlafsTer28",
        "hgvsWellDefined": "ENSP00000252996.3:p.[Gly99Ala;Pro102_Gly106delinsArgSerAlaArgAla;Ser109_Arg112delinsHisArgAlaAla;Val115Ser;Ala117Gln;Ala120_Pro121delinsArgArg;Ala123_Leu126delinsPro;Pro128Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011537",
      "geneNCBI_id": 6874,
      "geneSymbol": "TAF4",
      "hgvs": [
        "NM_003185.3:c.296del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003176.2:p.Gly99AlafsTer28",
        "hgvsWellDefined": "NP_003176.2:p.[Gly99Ala;Pro102_Gly106delinsArgSerAlaArgAla;Ser109_Arg112delinsHisArgAlaAla;Val115Ser;Ala117Gln;Ala120_Pro121delinsArgArg;Ala123_Leu126delinsPro;Pro128Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011537",
      "geneNCBI_id": 6874,
      "geneSymbol": "TAF4",
      "hgvs": [
        "NM_003185.4:c.296del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003176.2:p.Gly99AlafsTer28",
        "hgvsWellDefined": "NP_003176.2:p.[Gly99Ala;Pro102_Gly106delinsArgSerAlaArgAla;Ser109_Arg112delinsHisArgAlaAla;Val115Ser;Ala117Gln;Ala120_Pro121delinsArgArg;Ala123_Leu126delinsPro;Pro128Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727363",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252996.9:c.296del"
          },
          "RefSeq": {
            "hgvs": "NM_003185.4:c.296del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252996.3:p.Gly99AlafsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_003176.2:p.Gly99AlafsTer28"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}