{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342021",
  "communityStandardTitle": [
    "NM_004364.5(CEBPA):c.318_319dup (p.Asp107ValfsTer?)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.33793002_33793003dupCA?assembly=hg19",
        "id": "chr19:g.33793002_33793003dupCA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.33793001_33793002insCA?assembly=hg19",
        "id": "chr19:g.33793001_33793002insCA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.33302096_33302097dupCA?assembly=hg38",
        "id": "chr19:g.33302096_33302097dupCA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.33302095_33302096insCA?assembly=hg38",
        "id": "chr19:g.33302095_33302096insCA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852732",
        "rs": 137852732
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "CA",
          "end": 33302097,
          "referenceAllele": "",
          "start": 33302097
        }
      ],
      "hgvs": [
        "NC_000019.10:g.33302096_33302097dup",
        "CM000681.2:g.33302096_33302097dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "CA",
          "end": 33793003,
          "referenceAllele": "",
          "start": 33793003
        }
      ],
      "hgvs": [
        "NC_000019.9:g.33793002_33793003dup",
        "CM000681.1:g.33793002_33793003dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "CA",
          "end": 38484843,
          "referenceAllele": "",
          "start": 38484843
        }
      ],
      "hgvs": [
        "NC_000019.8:g.38484842_38484843dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 5429,
          "referenceAllele": "",
          "start": 5429
        }
      ],
      "hgvs": [
        "NG_012022.1:g.5428_5429dup",
        "LRG_456:g.5428_5429dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002110"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 439,
          "referenceAllele": "",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "ENST00000498907.3:c.318_319dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427514.1:p.Asp107ValfsTer?",
        "hgvsWellDefined": "ENSP00000427514.1:p.[Asp107_Gly110delinsValThrThrArg;Ala111_Pro112insArg;Ala113_Gly114delinsArgAla;Gly116_Met120delinsAlaAlaProSerCys;Gly123_His125delinsGluArgThr;Pro128Arg;Gly130_Ala136delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757916",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498907.3:c.318_319dup"
          },
          "RefSeq": {
            "hgvs": "NM_004364.5:c.318_319dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000427514.1:p.Asp107ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004355.2:p.Asp107ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 469,
          "referenceAllele": "",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "ENST00000498907.2:c.318_319dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427514.1:p.Asp107ValfsTer?",
        "hgvsWellDefined": "ENSP00000427514.1:p.[Asp107_Gly110delinsValThrThrArg;Ala111_Pro112insArg;Ala113_Gly114delinsArgAla;Gly116_Met120delinsAlaAlaProSerCys;Gly123_His125delinsGluArgThr;Pro128Arg;Gly130_Ala136delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334762"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 469,
          "referenceAllele": "",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_001285829.1:c.-40_-39dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272758.1:n.-40_-39dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022693"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 469,
          "referenceAllele": "",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_001287424.1:c.423_424dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274353.1:p.Asp142ValfsTer?",
        "hgvsWellDefined": "NP_001274353.1:p.[Asp142_Gly145delinsValThrThrArg;Ala146_Pro147insArg;Ala148_Gly149delinsArgAla;Gly151_Met155delinsAlaAlaProSerCys;Gly158_His160delinsGluArgThr;Pro163Arg;Gly165_Ala171delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023326"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 469,
          "referenceAllele": "",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_001287435.1:c.276_277dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274364.1:p.Asp93ValfsTer?",
        "hgvsWellDefined": "NP_001274364.1:p.[Asp93_Gly96delinsValThrThrArg;Ala97_Pro98insArg;Ala99_Gly100delinsArgAla;Gly102_Met106delinsAlaAlaProSerCys;Gly109_His111delinsGluArgThr;Pro114Arg;Gly116_Ala122delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023336"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 469,
          "referenceAllele": "",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_004364.4:c.318_319dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004355.2:p.Asp107ValfsTer?",
        "hgvsWellDefined": "NP_004355.2:p.[Asp107_Gly110delinsValThrThrArg;Ala111_Pro112insArg;Ala113_Gly114delinsArgAla;Gly116_Met120delinsAlaAlaProSerCys;Gly123_His125delinsGluArgThr;Pro128Arg;Gly130_Ala136delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029528"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 439,
          "referenceAllele": "",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_001287424.2:c.423_424dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274353.1:p.Asp142ValfsTer?",
        "hgvsWellDefined": "NP_001274353.1:p.[Asp142_Gly145delinsValThrThrArg;Ala146_Pro147insArg;Ala148_Gly149delinsArgAla;Gly151_Met155delinsAlaAlaProSerCys;Gly158_His160delinsGluArgThr;Pro163Arg;Gly165_Ala171delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682396"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 439,
          "referenceAllele": "",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_004364.5:c.318_319dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004355.2:p.Asp107ValfsTer?",
        "hgvsWellDefined": "NP_004355.2:p.[Asp107_Gly110delinsValThrThrArg;Ala111_Pro112insArg;Ala113_Gly114delinsArgAla;Gly116_Met120delinsAlaAlaProSerCys;Gly123_His125delinsGluArgThr;Pro128Arg;Gly130_Ala136delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000498907.3:c.318_319dup"
          },
          "RefSeq": {
            "hgvs": "NM_004364.5:c.318_319dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000427514.1:p.Asp107ValfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004355.2:p.Asp107ValfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 439,
          "referenceAllele": "",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_001285829.2:c.-40_-39dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001272758.1:n.-40_-39dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781809"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 439,
          "referenceAllele": "",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001833",
      "geneNCBI_id": 1050,
      "geneSymbol": "CEBPA",
      "hgvs": [
        "NM_001287435.2:c.276_277dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274364.1:p.Asp93ValfsTer?",
        "hgvsWellDefined": "NP_001274364.1:p.[Asp93_Gly96delinsValThrThrArg;Ala97_Pro98insArg;Ala99_Gly100delinsArgAla;Gly102_Met106delinsAlaAlaProSerCys;Gly109_His111delinsGluArgThr;Pro114Arg;Gly116_Ala122delinsAlaThrAlaAlaArgProPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781816"
    }
  ],
  "type": "nucleotide"
}