{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043162",
  "communityStandardTitle": [
    "NM_001379200.1(TBX1):c.1203_1222dup (p.Glu408GlyfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360504[alleleid]",
        "alleleId": 360504,
        "preferredName": "NM_001379200.1(TBX1):c.1203_1222dup (p.Glu408fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373046",
        "RCV": [
          "RCV000414465"
        ],
        "variationId": 373046
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.19754078_19754097dup20?assembly=hg19",
        "id": "chr22:g.19754078_19754097dup20"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.19766555_19766574dup20?assembly=hg38",
        "id": "chr22:g.19766555_19766574dup20"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518168",
        "rs": 1057518168
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 19766574,
          "referenceAllele": "",
          "start": 19766574
        }
      ],
      "hgvs": [
        "NC_000022.11:g.19766555_19766574dup",
        "CM000684.2:g.19766555_19766574dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 19754097,
          "referenceAllele": "",
          "start": 19754097
        }
      ],
      "hgvs": [
        "NC_000022.10:g.19754078_19754097dup",
        "CM000684.1:g.19754078_19754097dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 18134097,
          "referenceAllele": "",
          "start": 18134097
        }
      ],
      "hgvs": [
        "NC_000022.9:g.18134078_18134097dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 14872,
          "referenceAllele": "",
          "start": 14872
        }
      ],
      "hgvs": [
        "NG_009229.1:g.14853_14872dup",
        "LRG_226:g.14853_14872dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001499"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1288,
          "referenceAllele": "",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "ENST00000649276.2:c.1203_1222dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497003.1:p.Glu408GlyfsTer?",
        "hgvsWellDefined": "ENSP00000497003.1:p.[Glu408_Ala413delinsGlyProValProArgThr;Gly415delinsSerCys;Ser417_Glu418delinsTrpArgArg;Leu420Ala;His422_Tyr427delinsArgSerArgCysThrThrThr;Ala429_Leu436delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770447",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649276.2:c.1203_1222dup"
          },
          "RefSeq": {
            "hgvs": "NM_001379200.1:c.1203_1222dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497003.1:p.Glu408GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001366129.1:p.Glu408GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "ENST00000329705.11:c.1009+553_1009+572dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331176.7:n.1009+553_1009+572dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259131"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1324,
          "referenceAllele": "",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "ENST00000332710.8:c.1176_1195dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331791.4:p.Glu399GlyfsTer?",
        "hgvsWellDefined": "ENSP00000331791.4:p.[Glu399_Ala404delinsGlyProValProArgThr;Gly406delinsSerCys;Ser408_Glu409delinsTrpArgArg;Leu411Ala;His413_Tyr418delinsArgSerArgCysThrThrThr;Ala420_Leu427delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259604"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "ENST00000359500.7:c.1009+553_1009+572dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352483.3:n.1009+553_1009+572dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264808"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "ENST00000621939.1:c.1009+553_1009+572dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477982.1:n.1009+553_1009+572dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405494"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "NM_005992.1:c.1009+553_1009+572dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005983.1:n.1009+553_1009+572dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031038"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "NM_080646.1:c.1009+553_1009+572dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_542377.1:n.1009+553_1009+572dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040211"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1324,
          "referenceAllele": "",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "NM_080647.1:c.1176_1195dup",
        "LRG_226t1:c.1176_1195dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_542378.1:p.Glu399GlyfsTer?",
        "hgvsWellDefined": "NP_542378.1:p.[Glu399_Ala404delinsGlyProValProArgThr;Gly406delinsSerCys;Ser408_Glu409delinsTrpArgArg;Leu411Ala;His413_Tyr418delinsArgSerArgCysThrThrThr;Ala420_Leu427delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040212"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1498,
          "referenceAllele": "",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "XM_006724312.1:c.1176_1195dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724375.1:p.Glu399GlyfsTer?",
        "hgvsWellDefined": "XP_006724375.1:p.[Glu399_Ala404delinsGlyProValProArgThr;Gly406delinsSerCys;Ser408_Glu409delinsTrpArgArg;Leu411Ala;His413_Tyr418delinsArgSerArgCysThrThrThr;Ala420_Leu427delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075468"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1269,
          "referenceAllele": "",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "XM_011530351.1:c.1203_1222dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528653.1:p.Glu408GlyfsTer?",
        "hgvsWellDefined": "XP_011528653.1:p.[Glu408_Ala413delinsGlyProValProArgThr;Gly415delinsSerCys;Ser417_Glu418delinsTrpArgArg;Leu420Ala;His422_Tyr427delinsArgSerArgCysThrThrThr;Ala429_Leu436delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097409"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1493,
          "referenceAllele": "",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "XM_006724312.2:c.1176_1195dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724375.1:p.Glu399GlyfsTer?",
        "hgvsWellDefined": "XP_006724375.1:p.[Glu399_Ala404delinsGlyProValProArgThr;Gly406delinsSerCys;Ser408_Glu409delinsTrpArgArg;Leu411Ala;His413_Tyr418delinsArgSerArgCysThrThrThr;Ala420_Leu427delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540949"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1369,
          "referenceAllele": "",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "XM_017028925.1:c.1326_1345dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884414.1:p.Glu449GlyfsTer?",
        "hgvsWellDefined": "XP_016884414.1:p.[Glu449_Ala454delinsGlyProValProArgThr;Gly456delinsSerCys;Ser458_Glu459delinsTrpArgArg;Leu461Ala;His463_Tyr468delinsArgSerArgCysThrThrThr;Ala470_Leu477delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578564"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1459,
          "referenceAllele": "",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "XM_017028926.1:c.1176_1195dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884415.1:p.Glu399GlyfsTer?",
        "hgvsWellDefined": "XP_016884415.1:p.[Glu399_Ala404delinsGlyProValProArgThr;Gly406delinsSerCys;Ser408_Glu409delinsTrpArgArg;Leu411Ala;His413_Tyr418delinsArgSerArgCysThrThrThr;Ala420_Leu427delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578565"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1185,
          "referenceAllele": "",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "XM_017028927.1:c.531_550dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884416.1:p.Glu184GlyfsTer?",
        "hgvsWellDefined": "XP_016884416.1:p.[Glu184_Ala189delinsGlyProValProArgThr;Gly191delinsSerCys;Ser193_Glu194delinsTrpArgArg;Leu196Ala;His198_Tyr203delinsArgSerArgCysThrThrThr;Ala205_Leu212delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578566"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1182,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "",
          "start": 1182,
          "startIntronDirection": "+",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "XM_017028928.1:c.1159+553_1159+572dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884417.1:n.1159+553_1159+572dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578567"
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1288,
          "referenceAllele": "",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "NM_001379200.1:c.1203_1222dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366129.1:p.Glu408GlyfsTer?",
        "hgvsWellDefined": "NP_001366129.1:p.[Glu408_Ala413delinsGlyProValProArgThr;Gly415delinsSerCys;Ser417_Glu418delinsTrpArgArg;Leu420Ala;His422_Tyr427delinsArgSerArgCysThrThrThr;Ala429_Leu436delinsThrAsnIleArgProProProThrThrThrIleSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721931",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649276.2:c.1203_1222dup"
          },
          "RefSeq": {
            "hgvs": "NM_001379200.1:c.1203_1222dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497003.1:p.Glu408GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001366129.1:p.Glu408GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GCCCAGTCCCCCGAACCCCG",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 572,
          "referenceAllele": "",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011592",
      "geneNCBI_id": 6899,
      "geneSymbol": "TBX1",
      "hgvs": [
        "NM_080646.2:c.1009+553_1009+572dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_542377.1:n.1009+553_1009+572dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729048"
    }
  ],
  "type": "nucleotide"
}