{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA113911",
  "communityStandardTitle": [
    "NM_001128228.3(TPRN):c.1530del (p.Thr511LeufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15177[alleleid]",
        "alleleId": 15177,
        "preferredName": "NM_001128228.3(TPRN):c.1530del (p.Thr511fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138",
        "RCV": [
          "RCV000000161"
        ],
        "variationId": 138
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.140093634del?assembly=hg19",
        "id": "chr9:g.140093634del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.137199182del?assembly=hg38",
        "id": "chr9:g.137199182del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906222",
        "rs": 387906222
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-137199181-TC-T?dataset=gnomad_r4",
        "id": "9-137199181-TC-T",
        "variant": "9:137199181 TC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 137199184,
          "referenceAllele": "C",
          "start": 137199183
        }
      ],
      "hgvs": [
        "NC_000009.12:g.137199184del",
        "CM000671.2:g.137199184del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 140093636,
          "referenceAllele": "C",
          "start": 140093635
        }
      ],
      "hgvs": [
        "NC_000009.11:g.140093636del",
        "CM000671.1:g.140093636del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 139213457,
          "referenceAllele": "C",
          "start": 139213456
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139213457del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6530,
          "referenceAllele": "G",
          "start": 6529
        }
      ],
      "hgvs": [
        "NG_027801.1:g.6530del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 10012,
          "referenceAllele": "G",
          "start": 10011
        }
      ],
      "hgvs": [
        "NG_027801.2:g.10012del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706134"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1560,
          "referenceAllele": "G",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000409012.6:c.1530del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387100.4:p.Thr511LeufsTer?",
        "hgvsWellDefined": "ENSP00000387100.4:p.[Thr511del;Gln513_Phe517delinsCysArgThrSerThr;Gln519_Pro524delinsValArgProThrGlySerLeuGlyHisGly;Glu528_Glu533delinsArgArgArgLeuVal;Cys536_Leu538delinsTrp;Pro540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409012.6:c.1530del"
          },
          "RefSeq": {
            "hgvs": "NM_001128228.3:c.1530del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387100.4:p.Thr511LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121700.2:p.Thr511LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000333046.8:c.924del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327617.4:p.Thr309LeufsTer?",
        "hgvsWellDefined": "ENSP00000327617.4:p.[Thr309del;Gln311_Phe315delinsCysArgThrSerThr;Gln317_Pro322delinsValArgProThrGlySerLeuGlyHisGly;Glu326_Glu331delinsArgArgArgLeuVal;Cys334_Leu336delinsTrp;Pro338del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259662"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000409012.4:c.1530del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387100.4:p.Thr511LeufsTer?",
        "hgvsWellDefined": "ENSP00000387100.4:p.[Thr511del;Gln513_Phe517delinsCysArgThrSerThr;Gln519_Pro524delinsValArgProThrGlySerLeuGlyHisGly;Glu528_Glu533delinsArgArgArgLeuVal;Cys536_Leu538delinsTrp;Pro540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 4922,
          "referenceAllele": "G",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000541945.1:n.90+4922del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363183"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1530,
          "referenceAllele": "G",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "NM_001128228.2:c.1530del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121700.2:p.Thr511LeufsTer?",
        "hgvsWellDefined": "NP_001121700.2:p.[Thr511del;Gln513_Phe517delinsCysArgThrSerThr;Gln519_Pro524delinsValArgProThrGlySerLeuGlyHisGly;Glu528_Glu533delinsArgArgArgLeuVal;Cys536_Leu538delinsTrp;Pro540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1560,
          "referenceAllele": "G",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "NM_001128228.3:c.1530del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121700.2:p.Thr511LeufsTer?",
        "hgvsWellDefined": "NP_001121700.2:p.[Thr511del;Gln513_Phe517delinsCysArgThrSerThr;Gln519_Pro524delinsValArgProThrGlySerLeuGlyHisGly;Glu528_Glu533delinsArgArgArgLeuVal;Cys536_Leu538delinsTrp;Pro540del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409012.6:c.1530del"
          },
          "RefSeq": {
            "hgvs": "NM_001128228.3:c.1530del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387100.4:p.Thr511LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121700.2:p.Thr511LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}