{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA324506",
  "communityStandardTitle": [
    "NM_181486.4(TBX5):c.421_443delinsCCAGGA (p.Ser141ProfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210208[alleleid]",
        "alleleId": 210208,
        "preferredName": "NM_181486.4(TBX5):c.421_443delinsCCAGGA (p.Ser141fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213828",
        "RCV": [
          "RCV000199954"
        ],
        "variationId": 213828
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114836445_114836467delinsTCCTGG?assembly=hg19",
        "id": "chr12:g.114836445_114836467delinsTCCTGG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114398640_114398662delinsTCCTGG?assembly=hg38",
        "id": "chr12:g.114398640_114398662delinsTCCTGG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223784",
        "rs": 863223784
      }
    ]
  },
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      "chromosome": "12",
      "coordinates": [
        {
          "allele": "TCCTGG",
          "end": 114398662,
          "referenceAllele": "CAATGCGCCCCGGTGGCGGGGGA",
          "start": 114398639
        }
      ],
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        "CM000674.2:g.114398640_114398662delinsTCCTGG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 114836467,
          "referenceAllele": "CAATGCGCCCCGGTGGCGGGGGA",
          "start": 114836444
        }
      ],
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        "CM000674.1:g.114836445_114836467delinsTCCTGG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
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        {
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          "end": 113320850,
          "referenceAllele": "CAATGCGCCCCGGTGGCGGGGGA",
          "start": 113320827
        }
      ],
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 14780
        }
      ],
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        "LRG_670:g.14781_14803delinsCCAGGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000550"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 6910,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754125",
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          }
        },
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          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Ser141ProfsTer?"
          }
        }
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    },
    {
      "coordinates": [
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000309913.4:p.[Ser141del;Ala143_Gly145delinsGlyAspGlu;His147_Met149delinsAla;Gln151del;Val153_Lys157del;Lys159_Leu160delinsProGlu;Asn162_Asn163delinsGlnAla;Leu165_Asp166delinsGlnGln;Phe168Pro;His170Pro;Ile172_Asn174delinsTrpAlaTyrTyr;Met176delinsLysPhe;His177_Lys178insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256351"
    },
    {
      "coordinates": [
        {
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          "end": 870,
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          "start": 847
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      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000349716.9:c.271_293delinsCCAGGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337723.5:p.Ser91ProfsTer?",
        "hgvsWellDefined": "ENSP00000337723.5:p.[Ser91del;Ala93_Gly95delinsGlyAspGlu;His97_Met99delinsAla;Gln101del;Val103_Lys107del;Lys109_Leu110delinsProGlu;Asn112_Asn113delinsGlnAla;Leu115_Asp116delinsGlnGln;Phe118Pro;His120Pro;Ile122_Asn124delinsTrpAlaTyrTyr;Met126delinsLysPhe;His127_Lys128insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262614"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 938,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 915
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      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.6:c.421_443delinsCCAGGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384152.2:p.Ser141ProfsTer?",
        "hgvsWellDefined": "ENSP00000384152.2:p.[Ser141del;Ala143_Gly145delinsGlyAspGlu;His147_Met149delinsAla;Gln151del;Val153_Lys157del;Lys159_Leu160delinsProGlu;Asn162_Asn163delinsGlnAla;Leu165_Asp166delinsGlnGln;Phe168Pro;His170Pro;Ile172_Asn174delinsTrpAlaTyrTyr;Met176delinsLysPhe;His177_Lys178insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280350"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 443,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000526441.1:c.421_443delinsCCAGGA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433292.1:p.Ser141ProfsTer?",
        "hgvsWellDefined": "ENSP00000433292.1:p.[Ser141del;Ala143_Gly145delinsGlyAspGlu;His147_Met149delinsAla;Gln151del;Val153_Lys157del;Lys159_Leu160delinsProGlu;Asn162_Asn163delinsGlnAla;Leu165_Asp166delinsGlnGln;Phe168Pro;His170Pro;Ile172_Asn174delinsTrpAlaTyrTyr;Met176delinsLysPhe;His177_Lys178insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352310"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 494,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 471
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      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000552726.1:n.472_494delinsCCAGGA"
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      "referenceSequence": "http://reg.genome.network/refseq/RS369413"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 1110,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
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      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_000192.3:c.421_443delinsCCAGGA",
        "LRG_670t1:c.421_443delinsCCAGGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000183.2:p.Ser141ProfsTer?",
        "hgvsWellDefined": "NP_000183.2:p.[Ser141del;Ala143_Gly145delinsGlyAspGlu;His147_Met149delinsAla;Gln151del;Val153_Lys157del;Lys159_Leu160delinsProGlu;Asn162_Asn163delinsGlnAla;Leu165_Asp166delinsGlnGln;Phe168Pro;His170Pro;Ile172_Asn174delinsTrpAlaTyrTyr;Met176delinsLysPhe;His177_Lys178insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006254"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 925,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.2:c.271_293delinsCCAGGA"
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      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Ser91ProfsTer?",
        "hgvsWellDefined": "NP_542448.1:p.[Ser91del;Ala93_Gly95delinsGlyAspGlu;His97_Met99delinsAla;Gln101del;Val103_Lys107del;Lys109_Leu110delinsProGlu;Asn112_Asn113delinsGlnAla;Leu115_Asp116delinsGlnGln;Phe118Pro;His120Pro;Ile122_Asn124delinsTrpAlaTyrTyr;Met126delinsLysPhe;His127_Lys128insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040256"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 1017,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 994
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      ],
      "gene": "http://reg.genome.network/gene/GN011604",
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        "NM_181486.2:c.421_443delinsCCAGGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Ser141ProfsTer?",
        "hgvsWellDefined": "NP_852259.1:p.[Ser141del;Ala143_Gly145delinsGlyAspGlu;His147_Met149delinsAla;Gln151del;Val153_Lys157del;Lys159_Leu160delinsProGlu;Asn162_Asn163delinsGlnAla;Leu165_Asp166delinsGlnGln;Phe168Pro;His170Pro;Ile172_Asn174delinsTrpAlaTyrTyr;Met176delinsLysPhe;His177_Lys178insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043729"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 2861,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "XM_017019912.1:c.469_491delinsCCAGGA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875401.1:p.Ser157ProfsTer?",
        "hgvsWellDefined": "XP_016875401.1:p.[Ser157del;Ala159_Gly161delinsGlyAspGlu;His163_Met165delinsAla;Gln167del;Val169_Lys173del;Lys175_Leu176delinsProGlu;Asn178_Asn179delinsGlnAla;Leu181_Asp182delinsGlnGln;Phe184Pro;His186Pro;Ile188_Asn190delinsTrpAlaTyrTyr;Met192delinsLysPhe;His193_Lys194insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571492"
    },
    {
      "coordinates": [
        {
          "allele": "CCAGGA",
          "end": 495,
          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 472
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      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.3:c.271_293delinsCCAGGA"
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      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Ser91ProfsTer?",
        "hgvsWellDefined": "NP_542448.1:p.[Ser91del;Ala93_Gly95delinsGlyAspGlu;His97_Met99delinsAla;Gln101del;Val103_Lys107del;Lys109_Leu110delinsProGlu;Asn112_Asn113delinsGlnAla;Leu115_Asp116delinsGlnGln;Phe118Pro;His120Pro;Ile122_Asn124delinsTrpAlaTyrTyr;Met126delinsLysPhe;His127_Lys128insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699543"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "TCCCCCGCCACCGGGGCGCATTG",
          "start": 975
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      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.4:c.421_443delinsCCAGGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Ser141ProfsTer?",
        "hgvsWellDefined": "NP_852259.1:p.[Ser141del;Ala143_Gly145delinsGlyAspGlu;His147_Met149delinsAla;Gln151del;Val153_Lys157del;Lys159_Leu160delinsProGlu;Asn162_Asn163delinsGlnAla;Leu165_Asp166delinsGlnGln;Phe168Pro;His170Pro;Ile172_Asn174delinsTrpAlaTyrTyr;Met176delinsLysPhe;His177_Lys178insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000405440.7:c.421_443delinsCCAGGA"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.421_443delinsCCAGGA"
          }
        },
        "protein": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NP_852259.1:p.Ser141ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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      "hgvs": [
        "NM_080717.4:c.271_293delinsCCAGGA"
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      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Ser91ProfsTer?",
        "hgvsWellDefined": "NP_542448.1:p.[Ser91del;Ala93_Gly95delinsGlyAspGlu;His97_Met99delinsAla;Gln101del;Val103_Lys107del;Lys109_Leu110delinsProGlu;Asn112_Asn113delinsGlnAla;Leu115_Asp116delinsGlnGln;Phe118Pro;His120Pro;Ile122_Asn124delinsTrpAlaTyrTyr;Met126delinsLysPhe;His127_Lys128insAlaGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729060"
    }
  ],
  "type": "nucleotide"
}