{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261817",
  "communityStandardTitle": [
    "NM_001256317.3(TMPRSS3):c.579dup (p.Cys194MetfsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=497344[alleleid]",
        "alleleId": 497344,
        "preferredName": "NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/517148",
        "RCV": [
          "RCV000039360",
          "RCV001375133",
          "RCV001868082",
          "RCV003444606"
        ],
        "variationId": 517148
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-43804115-A-AT",
        "id": "21-43804115-A-AT",
        "variant": "21:43804115 A / AT"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43804116dup?assembly=hg19",
        "id": "chr21:g.43804116dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43804115_43804116insT?assembly=hg19",
        "id": "chr21:g.43804115_43804116insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.42384007dup?assembly=hg38",
        "id": "chr21:g.42384007dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.42384006_42384007insT?assembly=hg38",
        "id": "chr21:g.42384006_42384007insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517376",
        "rs": 397517376
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-43804115-A-AT?dataset=gnomad_r2_1",
        "id": "21-43804115-A-AT",
        "variant": "21:43804115 A / AT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42384006-A-AT?dataset=gnomad_r3",
        "id": "21-42384006-A-AT",
        "variant": "21:42384006 A / AT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42384006-A-AT?dataset=gnomad_r4",
        "id": "21-42384006-A-AT",
        "variant": "21:42384006 A / AT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 42384007,
          "referenceAllele": "",
          "start": 42384007
        }
      ],
      "hgvs": [
        "NC_000021.9:g.42384007dup",
        "CM000683.2:g.42384007dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 43804116,
          "referenceAllele": "",
          "start": 43804116
        }
      ],
      "hgvs": [
        "NC_000021.8:g.43804116dup",
        "CM000683.1:g.43804116dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 42677185,
          "referenceAllele": "",
          "start": 42677185
        }
      ],
      "hgvs": [
        "NC_000021.7:g.42677185dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17085,
          "referenceAllele": "",
          "start": 17085
        }
      ],
      "hgvs": [
        "NG_011629.1:g.17085dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17085,
          "referenceAllele": "",
          "start": 17085
        }
      ],
      "hgvs": [
        "NG_011629.2:g.17085dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673551"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.7:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.3:p.Cys194MetfsTer17",
        "hgvsWellDefined": "ENSP00000411013.3:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000644384.2:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494414.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "ENSP00000494414.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.579dup"
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.579dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Cys194MetfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Cys194MetfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000652415.1:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498756.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "ENSP00000498756.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1535,
          "referenceAllele": "",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000291532.7:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291532.3:p.Cys194MetfsTer17",
        "hgvsWellDefined": "ENSP00000291532.3:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398397.3:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381434.3:p.Cys194MetfsTer17",
        "hgvsWellDefined": "ENSP00000381434.3:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398405.5:c.573dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381442.1:p.Cys192MetfsTer17",
        "hgvsWellDefined": "ENSP00000381442.1:p.[Cys192_Thr199delinsMetCys;Gln201_His207delinsTrpPro;Arg209del;Ser212_Ile215delinsLeuAla;Gly217_Met220delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.6:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.2:p.Cys194MetfsTer17",
        "hgvsWellDefined": "ENSP00000411013.2:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000474596.5:n.447dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000482761.1:n.866dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.1:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_001243246.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.2:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_076927.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.2:c.198dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:p.Cys67MetfsTer17",
        "hgvsWellDefined": "NP_115780.1:p.[Cys67_Thr74delinsMetCys;Gln76_His82delinsTrpPro;Arg84del;Ser87_Ile90delinsLeuAla;Gly92_Met95delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.1:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_115781.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1535,
          "referenceAllele": "",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NR_046020.1:n.1535dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.2:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_001243246.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.3:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_076927.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.2:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_115781.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.3:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_001243246.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714742",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.579dup"
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.579dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Cys194MetfsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Cys194MetfsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.4:c.579dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Cys194MetfsTer17",
        "hgvsWellDefined": "NP_076927.1:p.[Cys194_Thr201delinsMetCys;Gln203_His209delinsTrpPro;Arg211del;Ser214_Ile217delinsLeuAla;Gly219_Met222delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.3:c.198dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:p.Cys67MetfsTer17",
        "hgvsWellDefined": "NP_115780.1:p.[Cys67_Thr74delinsMetCys;Gln76_His82delinsTrpPro;Arg84del;Ser87_Ile90delinsLeuAla;Gly92_Met95delinsHisSerLeuTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728830"
    }
  ],
  "type": "nucleotide"
}