{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2692802283",
  "communityStandardTitle": [
    "NM_001128228.3(TPRN):c.214_235del (p.Gly72CysfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906221",
        "rs": 387906221
      }
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-137200476-AGCCGCGCCCCCGCCGCGCCCCC-A?dataset=gnomad_r4",
        "id": "9-137200476-AGCCGCGCCCCCGCCGCGCCCCC-A",
        "variant": "9:137200476 AGCCGCGCCCCCGCCGCGCCCCC / A"
      }
    ]
  },
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      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 137200506,
          "referenceAllele": "CCCGCCGCGCCCCCGCCGCGCC",
          "start": 137200484
        }
      ],
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        "CM000671.2:g.137200485_137200506del"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 140094958,
          "referenceAllele": "CCCGCCGCGCCCCCGCCGCGCC",
          "start": 140094936
        }
      ],
      "hgvs": [
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        "CM000671.1:g.140094937_140094958del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 139214779,
          "referenceAllele": "CCCGCCGCGCCCCCGCCGCGCC",
          "start": 139214757
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139214758_139214779del"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5235,
          "referenceAllele": "GGCGGGGGCGCGGCGGGGGCGC",
          "start": 5213
        }
      ],
      "hgvs": [
        "NG_027801.1:g.5214_5235del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8717,
          "referenceAllele": "GGCGGGGGCGCGGCGGGGGCGC",
          "start": 8695
        }
      ],
      "hgvs": [
        "NG_027801.2:g.8696_8717del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706134"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "GGCGGGGGCGCGGCGGGGGCGC",
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      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000409012.6:c.214_235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387100.4:p.Gly72CysfsTer?",
        "hgvsWellDefined": "ENSP00000387100.4:p.[Gly72_Gly76delinsCysTrpSerGlyThr;Arg78_Leu79delinsAlaCys;Glu81_Val86delinsAlaCysAla;Gly88_Arg90delinsSer;Leu92_Arg93delinsProThr;Asp95Ser;Val97_Val103delinsSerSerArgArgCys;Gly105_Pro107delinsAlaSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409012.6:c.214_235del"
          },
          "RefSeq": {
            "hgvs": "NM_001128228.3:c.214_235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387100.4:p.Gly72CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121700.2:p.Gly72CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 322,
          "referenceAllele": "GGCGGGGGCGCGGCGGGGGCGC",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000409012.4:c.214_235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387100.4:p.Gly72CysfsTer?",
        "hgvsWellDefined": "ENSP00000387100.4:p.[Gly72_Gly76delinsCysTrpSerGlyThr;Arg78_Leu79delinsAlaCys;Glu81_Val86delinsAlaCysAla;Gly88_Arg90delinsSer;Leu92_Arg93delinsProThr;Asp95Ser;Val97_Val103delinsSerSerArgArgCys;Gly105_Pro107delinsAlaSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 3627,
          "referenceAllele": "GGCGGGGGCGCGGCGGGGGCGC",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000541945.1:n.90+3606_90+3627del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363183"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 235,
          "referenceAllele": "GGCGGGGGCGCGGCGGGGGCGC",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "NM_001128228.2:c.214_235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121700.2:p.Gly72CysfsTer?",
        "hgvsWellDefined": "NP_001121700.2:p.[Gly72_Gly76delinsCysTrpSerGlyThr;Arg78_Leu79delinsAlaCys;Glu81_Val86delinsAlaCysAla;Gly88_Arg90delinsSer;Leu92_Arg93delinsProThr;Asp95Ser;Val97_Val103delinsSerSerArgArgCys;Gly105_Pro107delinsAlaSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "GGCGGGGGCGCGGCGGGGGCGC",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "NM_001128228.3:c.214_235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121700.2:p.Gly72CysfsTer?",
        "hgvsWellDefined": "NP_001121700.2:p.[Gly72_Gly76delinsCysTrpSerGlyThr;Arg78_Leu79delinsAlaCys;Glu81_Val86delinsAlaCysAla;Gly88_Arg90delinsSer;Leu92_Arg93delinsProThr;Asp95Ser;Val97_Val103delinsSerSerArgArgCys;Gly105_Pro107delinsAlaSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409012.6:c.214_235del"
          },
          "RefSeq": {
            "hgvs": "NM_001128228.3:c.214_235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387100.4:p.Gly72CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121700.2:p.Gly72CysfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}