{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA113910",
  "communityStandardTitle": [
    "NM_001128228.3(TPRN):c.225_235del (p.Gly76AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15176[alleleid]",
        "alleleId": 15176,
        "preferredName": "NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137",
        "RCV": [
          "RCV000000160",
          "RCV001008132",
          "RCV004017216"
        ],
        "variationId": 137
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.140094929_140094939del?assembly=hg19",
        "id": "chr9:g.140094929_140094939del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.137200477_137200487del?assembly=hg38",
        "id": "chr9:g.137200477_137200487del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906221",
        "rs": 387906221
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-140094928-AGCCGCGCCCCC-A?dataset=gnomad_r2_1",
        "id": "9-140094928-AGCCGCGCCCCC-A",
        "variant": "9:140094928 AGCCGCGCCCCC / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-137200476-AGCCGCGCCCCC-A?dataset=gnomad_r3",
        "id": "9-137200476-AGCCGCGCCCCC-A",
        "variant": "9:137200476 AGCCGCGCCCCC / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-137200476-AGCCGCGCCCCC-A?dataset=gnomad_r4",
        "id": "9-137200476-AGCCGCGCCCCC-A",
        "variant": "9:137200476 AGCCGCGCCCCC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 137200506,
          "referenceAllele": "CCCGCCGCGCC",
          "start": 137200495
        }
      ],
      "hgvs": [
        "NC_000009.12:g.137200496_137200506del",
        "CM000671.2:g.137200496_137200506del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 140094958,
          "referenceAllele": "CCCGCCGCGCC",
          "start": 140094947
        }
      ],
      "hgvs": [
        "NC_000009.11:g.140094948_140094958del",
        "CM000671.1:g.140094948_140094958del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 139214779,
          "referenceAllele": "CCCGCCGCGCC",
          "start": 139214768
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139214769_139214779del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5235,
          "referenceAllele": "GGCGGGGGCGC",
          "start": 5224
        }
      ],
      "hgvs": [
        "NG_027801.1:g.5225_5235del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003971"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8717,
          "referenceAllele": "GGCGGGGGCGC",
          "start": 8706
        }
      ],
      "hgvs": [
        "NG_027801.2:g.8707_8717del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706134"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "GGCGGGGGCGC",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000409012.6:c.225_235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387100.4:p.Gly76AlafsTer?",
        "hgvsWellDefined": "ENSP00000387100.4:p.[Ala75dup;Arg78_Tyr83delinsValProProArgAlaTrp;Arg85_Val86delinsAlaArg;Gly88_Val89delinsProArg;Ala91_Leu92delinsGln;Ala94_Val103delinsProHisHisArgAspGlyAlaArgLeu;Gly105_Pro108delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409012.6:c.225_235del"
          },
          "RefSeq": {
            "hgvs": "NM_001128228.3:c.225_235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387100.4:p.Gly76AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121700.2:p.Gly76AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 322,
          "referenceAllele": "GGCGGGGGCGC",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000409012.4:c.225_235del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387100.4:p.Gly76AlafsTer?",
        "hgvsWellDefined": "ENSP00000387100.4:p.[Ala75dup;Arg78_Tyr83delinsValProProArgAlaTrp;Arg85_Val86delinsAlaArg;Gly88_Val89delinsProArg;Ala91_Leu92delinsGln;Ala94_Val103delinsProHisHisArgAspGlyAlaArgLeu;Gly105_Pro108delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281179"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 3627,
          "referenceAllele": "GGCGGGGGCGC",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "ENST00000541945.1:n.90+3617_90+3627del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363183"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 235,
          "referenceAllele": "GGCGGGGGCGC",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "NM_001128228.2:c.225_235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121700.2:p.Gly76AlafsTer?",
        "hgvsWellDefined": "NP_001121700.2:p.[Ala75dup;Arg78_Tyr83delinsValProProArgAlaTrp;Arg85_Val86delinsAlaArg;Gly88_Val89delinsProArg;Ala91_Leu92delinsGln;Ala94_Val103delinsProHisHisArgAspGlyAlaArgLeu;Gly105_Pro108delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011764"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "GGCGGGGGCGC",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026894",
      "geneNCBI_id": 286262,
      "geneSymbol": "TPRN",
      "hgvs": [
        "NM_001128228.3:c.225_235del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121700.2:p.Gly76AlafsTer?",
        "hgvsWellDefined": "NP_001121700.2:p.[Ala75dup;Arg78_Tyr83delinsValProProArgAlaTrp;Arg85_Val86delinsAlaArg;Gly88_Val89delinsProArg;Ala91_Leu92delinsGln;Ala94_Val103delinsProHisHisArgAspGlyAlaArgLeu;Gly105_Pro108delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409012.6:c.225_235del"
          },
          "RefSeq": {
            "hgvs": "NM_001128228.3:c.225_235del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387100.4:p.Gly76AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001121700.2:p.Gly76AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}