{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254306",
  "communityStandardTitle": [
    "NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23038[alleleid]",
        "alleleId": 23038,
        "preferredName": "NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7999",
        "RCV": [
          "RCV000008463",
          "RCV003398470"
        ],
        "variationId": 7999
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114836480G>T?assembly=hg19",
        "id": "chr12:g.114836480G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114398675G>T?assembly=hg38",
        "id": "chr12:g.114398675G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894379",
        "rs": 104894379
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 114398675,
          "referenceAllele": "G",
          "start": 114398674
        }
      ],
      "hgvs": [
        "NC_000012.12:g.114398675G>T",
        "CM000674.2:g.114398675G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 114836480,
          "referenceAllele": "G",
          "start": 114836479
        }
      ],
      "hgvs": [
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        "CM000674.1:g.114836480G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 113320863,
          "referenceAllele": "G",
          "start": 113320862
        }
      ],
      "hgvs": [
        "NC_000012.10:g.113320863G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14768,
          "referenceAllele": "C",
          "start": 14767
        }
      ],
      "hgvs": [
        "NG_007373.1:g.14768C>A",
        "LRG_670:g.14768C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000550"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 963,
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          "start": 962
        }
      ],
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      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.7:c.408C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000384152.3:p.Tyr136_Ser518delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.408C>A"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.408C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Tyr136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Tyr136Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000310346.8:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309913.4:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000309913.4:p.Tyr136_Ser518delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000349716.9:c.258C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337723.5:p.Tyr86Ter",
        "hgvsWellDefined": "ENSP00000337723.5:p.Tyr86_Ser468delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.6:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384152.2:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000384152.2:p.Tyr136_Ser518delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000526441.1:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433292.1:p.Tyr136Ter",
        "hgvsWellDefined": "ENSP00000433292.1:p.Tyr136_Gly349delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGlyGluCysAspHisProTrpSerIleCysPheLeuSerTyrLeuPheLeuSerLeuGlyTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000552726.1:n.459C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254308",
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "C",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_000192.3:c.408C>A",
        "LRG_670t1:c.408C>A"
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      "proteinEffect": {
        "hgvs": "NP_000183.2:p.Tyr136Ter",
        "hgvsWellDefined": "NP_000183.2:p.Tyr136_Ser518delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006254"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057842",
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.2:c.258C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Tyr86Ter",
        "hgvsWellDefined": "NP_542448.1:p.Tyr86_Ser468delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830390599",
      "coordinates": [
        {
          "allele": "A",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.2:c.408C>A"
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      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Tyr136Ter",
        "hgvsWellDefined": "NP_852259.1:p.Tyr136_Ser518delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2826,
          "referenceAllele": "C",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "XM_017019912.1:c.456C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875401.1:p.Tyr152Ter",
        "hgvsWellDefined": "XP_016875401.1:p.Tyr152_Ser534delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057842",
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.3:c.258C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Tyr86Ter",
        "hgvsWellDefined": "NP_542448.1:p.Tyr86_Ser468delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830390599",
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.4:c.408C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Tyr136Ter",
        "hgvsWellDefined": "NP_852259.1:p.Tyr136_Ser518delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.408C>A"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.408C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Tyr136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Tyr136Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916057842",
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.4:c.258C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Tyr86Ter",
        "hgvsWellDefined": "NP_542448.1:p.Tyr86_Ser468delinsValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729060"
    }
  ],
  "type": "nucleotide"
}