{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16619437",
  "communityStandardTitle": [
    "NM_181486.4(TBX5):c.178G>T (p.Glu60Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408526[alleleid]",
        "alleleId": 408526,
        "preferredName": "NM_181486.4(TBX5):c.178G>T (p.Glu60Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419668",
        "RCV": [
          "RCV000486016"
        ],
        "variationId": 419668
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114839695C>A?assembly=hg19",
        "id": "chr12:g.114839695C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114401890C>A?assembly=hg38",
        "id": "chr12:g.114401890C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794030",
        "rs": 1064794030
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 114401890,
          "referenceAllele": "C",
          "start": 114401889
        }
      ],
      "hgvs": [
        "NC_000012.12:g.114401890C>A",
        "CM000674.2:g.114401890C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 114839695,
          "referenceAllele": "C",
          "start": 114839694
        }
      ],
      "hgvs": [
        "NC_000012.11:g.114839695C>A",
        "CM000674.1:g.114839695C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 113324078,
          "referenceAllele": "C",
          "start": 113324077
        }
      ],
      "hgvs": [
        "NC_000012.10:g.113324078C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11553,
          "referenceAllele": "G",
          "start": 11552
        }
      ],
      "hgvs": [
        "NG_007373.1:g.11553G>T",
        "LRG_670:g.11553G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000550"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
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      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.7:c.178G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000384152.3:p.Glu60_Ser518delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.178G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.178G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Glu60Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Glu60Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000310346.8:c.178G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000309913.4:p.Glu60_Ser518delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000349716.9:c.28G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000337723.5:p.Glu10_Ser468delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.6:c.178G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384152.2:p.Glu60Ter",
        "hgvsWellDefined": "ENSP00000384152.2:p.Glu60_Ser518delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433292.1:p.Glu60Ter",
        "hgvsWellDefined": "ENSP00000433292.1:p.Glu60_Gly349delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGlyGluCysAspHisProTrpSerIleCysPheLeuSerTyrLeuPheLeuSerLeuGlyTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000552726.1:n.229G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645484351",
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_000192.3:c.178G>T",
        "LRG_670t1:c.178G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000183.2:p.Glu60Ter",
        "hgvsWellDefined": "NP_000183.2:p.Glu60_Ser518delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006254"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830160947",
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.2:c.28G>T"
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      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Glu10Ter",
        "hgvsWellDefined": "NP_542448.1:p.Glu10_Ser468delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077501",
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.2:c.178G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Glu60Ter",
        "hgvsWellDefined": "NP_852259.1:p.Glu60_Ser518delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "G",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "XM_017019912.1:c.226G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875401.1:p.Glu76Ter",
        "hgvsWellDefined": "XP_016875401.1:p.Glu76_Ser534delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830160947",
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.3:c.28G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Glu10Ter",
        "hgvsWellDefined": "NP_542448.1:p.Glu10_Ser468delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077501",
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.4:c.178G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Glu60Ter",
        "hgvsWellDefined": "NP_852259.1:p.Glu60_Ser518delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.178G>T"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.178G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Glu60Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Glu60Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830160947",
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.4:c.28G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Glu10Ter",
        "hgvsWellDefined": "NP_542448.1:p.Glu10_Ser468delinsArgGluLeuTrpLeuLysPheHisGluValGlyThrGluMetIleIleThrLysAlaGlyArgArgMetPheProSerTyrLysValLysValThrGlyLeuAsnProLysThrLysTyrIleLeuLeuMetAspIleValProAlaAspAspHisArgTyrLysPheAlaAspAsnLysTrpSerValThrGlyLysAlaGluProAlaMetProGlyArgLeuTyrValHisProAspSerProAlaThrGlyAlaHisTrpMetArgGlnLeuValSerPheGlnLysLeuLysLeuThrAsnAsnHisLeuAspProPheGlyHisIleIleLeuAsnSerMetHisLysTyrGlnProArgLeuHisIleValLysAlaAspGluAsnAsnGlyPheGlySerLysAsnThrAlaPheCysThrHisValPheProGluThrAlaPheIleAlaValThrSerTyrGlnAsnHisLysIleThrGlnLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729060"
    }
  ],
  "type": "nucleotide"
}