{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA322170",
  "communityStandardTitle": [
    "NM_181486.4(TBX5):c.420_432del (p.Asp140GlufsTer6)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210210[alleleid]",
        "alleleId": 210210,
        "preferredName": "NM_181486.4(TBX5):c.420_432del (p.Asp140fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213827",
        "RCV": [
          "RCV000197711"
        ],
        "variationId": 213827
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114836456_114836468del?assembly=hg19",
        "id": "chr12:g.114836456_114836468del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114398651_114398663del?assembly=hg38",
        "id": "chr12:g.114398651_114398663del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223783",
        "rs": 863223783
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 114398663,
          "referenceAllele": "GGTGGCGGGGGAG",
          "start": 114398650
        }
      ],
      "hgvs": [
        "NC_000012.12:g.114398651_114398663del",
        "CM000674.2:g.114398651_114398663del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 114836468,
          "referenceAllele": "GGTGGCGGGGGAG",
          "start": 114836455
        }
      ],
      "hgvs": [
        "NC_000012.11:g.114836456_114836468del",
        "CM000674.1:g.114836456_114836468del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 113320851,
          "referenceAllele": "GGTGGCGGGGGAG",
          "start": 113320838
        }
      ],
      "hgvs": [
        "NC_000012.10:g.113320839_113320851del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 14792,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 14779
        }
      ],
      "hgvs": [
        "NG_007373.1:g.14780_14792del",
        "LRG_670:g.14780_14792del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000550"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 987,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.7:c.420_432del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384152.3:p.Asp140GlufsTer6",
        "hgvsWellDefined": "ENSP00000384152.3:p.[Asp140_Thr144delinsGlu;Ala146_Met149del;Gln151_Phe168delinsIle;His170_Asn174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.420_432del"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.420_432del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Asp140GlufsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Asp140GlufsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1099,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000310346.8:c.420_432del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309913.4:p.Asp140GlufsTer6",
        "hgvsWellDefined": "ENSP00000309913.4:p.[Asp140_Thr144delinsGlu;Ala146_Met149del;Gln151_Phe168delinsIle;His170_Asn174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256351"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 859,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000349716.9:c.270_282del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337723.5:p.Asp90GlufsTer6",
        "hgvsWellDefined": "ENSP00000337723.5:p.[Asp90_Thr94delinsGlu;Ala96_Met99del;Gln101_Phe118delinsIle;His120_Asn124del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262614"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 927,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.6:c.420_432del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384152.2:p.Asp140GlufsTer6",
        "hgvsWellDefined": "ENSP00000384152.2:p.[Asp140_Thr144delinsGlu;Ala146_Met149del;Gln151_Phe168delinsIle;His170_Asn174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 432,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000526441.1:c.420_432del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433292.1:p.Asp140GlufsTer6",
        "hgvsWellDefined": "ENSP00000433292.1:p.[Asp140_Thr144delinsGlu;Ala146_Met149del;Gln151_Phe168delinsIle;His170_Asn174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352310"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 483,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000552726.1:n.471_483del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1099,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_000192.3:c.420_432del",
        "LRG_670t1:c.420_432del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000183.2:p.Asp140GlufsTer6",
        "hgvsWellDefined": "NP_000183.2:p.[Asp140_Thr144delinsGlu;Ala146_Met149del;Gln151_Phe168delinsIle;His170_Asn174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006254"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 914,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.2:c.270_282del"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Asp90GlufsTer6",
        "hgvsWellDefined": "NP_542448.1:p.[Asp90_Thr94delinsGlu;Ala96_Met99del;Gln101_Phe118delinsIle;His120_Asn124del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040256"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1006,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.2:c.420_432del"
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Asp140GlufsTer6",
        "hgvsWellDefined": "NP_852259.1:p.[Asp140_Thr144delinsGlu;Ala146_Met149del;Gln151_Phe168delinsIle;His170_Asn174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043729"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2850,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "XM_017019912.1:c.468_480del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875401.1:p.Asp156GlufsTer6",
        "hgvsWellDefined": "XP_016875401.1:p.[Asp156_Thr160delinsGlu;Ala162_Met165del;Gln167_Phe184delinsIle;His186_Asn190del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571492"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 484,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.3:c.270_282del"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Asp90GlufsTer6",
        "hgvsWellDefined": "NP_542448.1:p.[Asp90_Thr94delinsGlu;Ala96_Met99del;Gln101_Phe118delinsIle;His120_Asn124del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699543"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 987,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.4:c.420_432del"
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Asp140GlufsTer6",
        "hgvsWellDefined": "NP_852259.1:p.[Asp140_Thr144delinsGlu;Ala146_Met149del;Gln151_Phe168delinsIle;His170_Asn174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.420_432del"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.420_432del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Asp140GlufsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Asp140GlufsTer6"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 484,
          "referenceAllele": "CTCCCCCGCCACC",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.4:c.270_282del"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Asp90GlufsTer6",
        "hgvsWellDefined": "NP_542448.1:p.[Asp90_Thr94delinsGlu;Ala96_Met99del;Gln101_Phe118delinsIle;His120_Asn124del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729060"
    }
  ],
  "type": "nucleotide"
}