{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212752",
  "communityStandardTitle": [
    "NM_000507.4(FBP1):c.960_961insG (p.Ser321ValfsTer13)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15906[alleleid]",
        "alleleId": 15906,
        "preferredName": "NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/867",
        "RCV": [
          "RCV000000915",
          "RCV002512628"
        ],
        "variationId": 867
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-97365719-A-AC",
        "id": "9-97365719-A-AC",
        "variant": "9:97365719 A / AC"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.97365719_97365720insC?assembly=hg19",
        "id": "chr9:g.97365719_97365720insC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.94603437_94603438insC?assembly=hg38",
        "id": "chr9:g.94603437_94603438insC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757653154",
        "rs": 757653154
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-97365719-A-AC?dataset=gnomad_r2_1",
        "id": "9-97365719-A-AC",
        "variant": "9:97365719 A / AC"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-94603437-A-AC?dataset=gnomad_r3",
        "id": "9-94603437-A-AC",
        "variant": "9:94603437 A / AC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-94603437-A-AC?dataset=gnomad_r4",
        "id": "9-94603437-A-AC",
        "variant": "9:94603437 A / AC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 94603437,
          "referenceAllele": "",
          "start": 94603437
        }
      ],
      "hgvs": [
        "NC_000009.12:g.94603437_94603438insC",
        "CM000671.2:g.94603437_94603438insC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97365719,
          "referenceAllele": "",
          "start": 97365719
        }
      ],
      "hgvs": [
        "NC_000009.11:g.97365719_97365720insC",
        "CM000671.1:g.97365719_97365720insC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 96405540,
          "referenceAllele": "",
          "start": 96405540
        }
      ],
      "hgvs": [
        "NC_000009.10:g.96405540_96405541insC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41812,
          "referenceAllele": "",
          "start": 41812
        }
      ],
      "hgvs": [
        "NG_008174.1:g.41812_41813insG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000918"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1120,
          "referenceAllele": "",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "ENST00000682520.1:c.1120_1121insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507547.1:n.1120_1121insG"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "ENST00000375326.9:c.960_961insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364475.5:p.Ser321ValfsTer13",
        "hgvsWellDefined": "ENSP00000364475.5:p.[Ser321Val;Asp323_Lys330delinsArgArgArgAlaArg;Tyr332Pro;Lys334_Gln338delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751593",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375326.9:c.960_961insG"
          },
          "RefSeq": {
            "hgvs": "NM_000507.4:c.960_961insG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364475.5:p.Ser321ValfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000498.2:p.Ser321ValfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "ENST00000648117.1:c.765_766insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498145.1:p.Ser256ValfsTer13",
        "hgvsWellDefined": "ENSP00000498145.1:p.[Ser256Val;Asp258_Lys265delinsArgArgArgAlaArg;Tyr267Pro;Lys269_Gln273delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "ENST00000375326.8:c.960_961insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364475.4:p.Ser321ValfsTer13",
        "hgvsWellDefined": "ENSP00000364475.4:p.[Ser321Val;Asp323_Lys330delinsArgArgArgAlaArg;Tyr332Pro;Lys334_Gln338delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1190,
          "referenceAllele": "",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "ENST00000415431.5:c.960_961insG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408025.1:p.Ser321ValfsTer13",
        "hgvsWellDefined": "ENSP00000408025.1:p.[Ser321Val;Asp323_Lys330delinsArgArgArgAlaArg;Tyr332Pro;Lys334_Gln338delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1291,
          "referenceAllele": "",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "NM_000507.3:c.960_961insG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000498.2:p.Ser321ValfsTer13",
        "hgvsWellDefined": "NP_000498.2:p.[Ser321Val;Asp323_Lys330delinsArgArgArgAlaArg;Tyr332Pro;Lys334_Gln338delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1190,
          "referenceAllele": "",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "NM_001127628.1:c.960_961insG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121100.1:p.Ser321ValfsTer13",
        "hgvsWellDefined": "NP_001121100.1:p.[Ser321Val;Asp323_Lys330delinsArgArgArgAlaArg;Tyr332Pro;Lys334_Gln338delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "referenceAllele": "",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "XM_006717005.2:c.714_715insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717068.1:p.Ser239ValfsTer13",
        "hgvsWellDefined": "XP_006717068.1:p.[Ser239Val;Asp241_Lys248delinsArgArgArgAlaArg;Tyr250Pro;Lys252_Gln256delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "referenceAllele": "",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "XM_006717005.4:c.714_715insG"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717068.1:p.Ser239ValfsTer13",
        "hgvsWellDefined": "XP_006717068.1:p.[Ser239Val;Asp241_Lys248delinsArgArgArgAlaArg;Tyr250Pro;Lys252_Gln256delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "NM_000507.4:c.960_961insG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000498.2:p.Ser321ValfsTer13",
        "hgvsWellDefined": "NP_000498.2:p.[Ser321Val;Asp323_Lys330delinsArgArgArgAlaArg;Tyr332Pro;Lys334_Gln338delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674872",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375326.9:c.960_961insG"
          },
          "RefSeq": {
            "hgvs": "NM_000507.4:c.960_961insG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364475.5:p.Ser321ValfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000498.2:p.Ser321ValfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "referenceAllele": "",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003606",
      "geneNCBI_id": 2203,
      "geneSymbol": "FBP1",
      "hgvs": [
        "NM_001127628.2:c.960_961insG"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121100.1:p.Ser321ValfsTer13",
        "hgvsWellDefined": "NP_001121100.1:p.[Ser321Val;Asp323_Lys330delinsArgArgArgAlaArg;Tyr332Pro;Lys334_Gln338delinsGlyVal]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676917"
    }
  ],
  "type": "nucleotide"
}