{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA629927114",
  "communityStandardTitle": [
    "NM_015559.3(SETBP1):c.44dup (p.Glu16ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=938430[alleleid]",
        "alleleId": 938430,
        "preferredName": "NM_015559.3(SETBP1):c.44dup (p.Glu16fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934587",
        "RCV": [
          "RCV001203003",
          "RCV002287481"
        ],
        "variationId": 934587
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.42281350_42281351insG?assembly=hg19",
        "id": "chr18:g.42281350_42281351insG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.44701385_44701386insG?assembly=hg38",
        "id": "chr18:g.44701385_44701386insG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1231303606",
        "rs": 1231303606
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-42281350-A-AG?dataset=gnomad_r2_1",
        "id": "18-42281350-A-AG",
        "variant": "18:42281350 A / AG"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-44701385-A-AG?dataset=gnomad_r4",
        "id": "18-44701385-A-AG",
        "variant": "18:44701385 A / AG"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 44701390,
          "referenceAllele": "",
          "start": 44701390
        }
      ],
      "hgvs": [
        "NC_000018.10:g.44701390dup",
        "CM000680.2:g.44701390dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 42281355,
          "referenceAllele": "",
          "start": 42281355
        }
      ],
      "hgvs": [
        "NC_000018.9:g.42281355dup",
        "CM000680.1:g.42281355dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 40535353,
          "referenceAllele": "",
          "start": 40535353
        }
      ],
      "hgvs": [
        "NC_000018.8:g.40535353dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26218,
          "referenceAllele": "",
          "start": 26218
        }
      ],
      "hgvs": [
        "NG_027527.1:g.26218dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26218,
          "referenceAllele": "",
          "start": 26218
        }
      ],
      "hgvs": [
        "NG_027527.2:g.26218dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616269"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "referenceAllele": "",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000645568.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496513.1:p.Glu16ArgfsTer?",
        "hgvsWellDefined": "ENSP00000496513.1:p.[Glu16_Phe19delinsArgValArg;Val22_Ser23delinsAlaGlyLeuLeu;Ala25_Lys26delinsGlnAla;Pro28_Gly32delinsSerCysSerTrpLeu;Ala34_Leu38delinsArgArgThrPheAla;Ser40_Pro44delinsHisSerArgThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000649279.2:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497406.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770450",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649279.2:c.44dup"
          },
          "RefSeq": {
            "hgvs": "NM_015559.3:c.44dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497406.1:p.Glu16ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_056374.2:p.Glu16ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000677068.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504398.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000677077.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503656.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000677130.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503094.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000677699.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503964.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 290,
          "referenceAllele": "",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000678152.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502995.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000282030.5:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282030.5:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000426838.8:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390687.3:p.Glu16ArgfsTer?",
        "hgvsWellDefined": "ENSP00000390687.3:p.[Glu16_Phe19delinsArgValArg;Val22_Ser23delinsAlaGlyLeuLeu;Ala25_Lys26delinsGlnAla;Pro28_Gly32delinsSerCysSerTrpLeu;Ala34_Leu38delinsArgArgThrPheAla;Ser40_Pro44delinsHisSerArgThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "ENST00000591940.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468506.1:p.Glu16ArgfsTer?",
        "hgvsWellDefined": "ENSP00000468506.1:p.[Glu16_Phe19delinsArgValArg;Val22_Ser23delinsAlaGlyLeuLeu;Ala25_Lys26delinsGlnAla;Pro28_Gly32delinsSerCysSerTrpLeu;Ala34_Leu38delinsArgArgThrPheAla;Ser40_Pro44delinsHisSerArgThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NM_001130110.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123582.1:p.Glu16ArgfsTer?",
        "hgvsWellDefined": "NP_001123582.1:p.[Glu16_Phe19delinsArgValArg;Val22_Ser23delinsAlaGlyLeuLeu;Ala25_Lys26delinsGlnAla;Pro28_Gly32delinsSerCysSerTrpLeu;Ala34_Leu38delinsArgArgThrPheAla;Ser40_Pro44delinsHisSerArgThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NM_015559.2:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_056374.2:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "referenceAllele": "",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_005258243.3:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258300.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NM_015559.3:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_056374.2:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649279.2:c.44dup"
          },
          "RefSeq": {
            "hgvs": "NM_015559.3:c.44dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497406.1:p.Glu16ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_056374.2:p.Glu16ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "referenceAllele": "",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451149.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306917.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "referenceAllele": "",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451150.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306918.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8745,
          "referenceAllele": "",
          "start": 8745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451151.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306919.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451152.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306920.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "referenceAllele": "",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451153.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306921.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451154.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306922.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2302,
          "referenceAllele": "",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451155.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306923.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "referenceAllele": "",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451156.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306924.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "referenceAllele": "",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "XM_024451158.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306926.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "referenceAllele": "",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NM_001130110.2:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123582.1:p.Glu16ArgfsTer?",
        "hgvsWellDefined": "NP_001123582.1:p.[Glu16_Phe19delinsArgValArg;Val22_Ser23delinsAlaGlyLeuLeu;Ala25_Lys26delinsGlnAla;Pro28_Gly32delinsSerCysSerTrpLeu;Ala34_Leu38delinsArgArgThrPheAla;Ser40_Pro44delinsHisSerArgThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "referenceAllele": "",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NM_001379141.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366070.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "referenceAllele": "",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015573",
      "geneNCBI_id": 26040,
      "geneSymbol": "SETBP1",
      "hgvs": [
        "NM_001379142.1:c.44dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366071.1:p.Glu16ArgfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721910"
    }
  ],
  "type": "nucleotide"
}