{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16617086",
  "communityStandardTitle": [
    "NM_001100.4(ACTA1):c.323_329delinsTCGAGGT (p.[Thr108Ile;Ala110Val])"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405081[alleleid]",
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      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421346",
        "RCV": [
          "RCV000482001"
        ],
        "variationId": 421346
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795075",
        "rs": 1064795075
      }
    ]
  },
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      "coordinates": [
        {
          "allele": "ACCTCGA",
          "end": 229432687,
          "referenceAllele": "GCCTCGG",
          "start": 229432680
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      ],
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        "CM000663.2:g.229432681_229432687delinsACCTCGA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "ACCTCGA",
          "end": 229568434,
          "referenceAllele": "GCCTCGG",
          "start": 229568427
        }
      ],
      "hgvs": [
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        "CM000663.1:g.229568428_229568434delinsACCTCGA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 227635057,
          "referenceAllele": "GCCTCGG",
          "start": 227635050
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      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "TCGAGGT",
          "end": 6416,
          "referenceAllele": "CCGAGGC",
          "start": 6409
        }
      ],
      "hgvs": [
        "NG_006672.1:g.6410_6416delinsTCGAGGT",
        "LRG_429:g.6410_6416delinsTCGAGGT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000440"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TCGAGGT",
          "end": 442,
          "referenceAllele": "CCGAGGC",
          "start": 435
        }
      ],
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      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355644.4:p.[Thr108Ile;Ala110Val]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824177"
    },
    {
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        {
          "allele": "TCGAGGT",
          "end": 297,
          "referenceAllele": "CCGAGGC",
          "start": 290
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      ],
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      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000684723.1:c.188_194delinsTCGAGGT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508084.1:p.Thr63_Ala65delinsIleGluVal",
        "hgvsWellDefined": "ENSP00000508084.1:p.[Thr63Ile;Ala65Val]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829674"
    },
    {
      "coordinates": [
        {
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          "end": 436,
          "referenceAllele": "CCGAGGC",
          "start": 429
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      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265963"
    },
    {
      "coordinates": [
        {
          "allele": "TCGAGGT",
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          "referenceAllele": "CCGAGGC",
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      ],
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      "geneNCBI_id": 58,
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        "hgvsWellDefined": "ENSP00000355645.3:p.[Thr108Ile;Ala110Val]"
      },
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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000366684.7:c.323_329delinsTCGAGGT"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.323_329delinsTCGAGGT"
          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Thr108_Ala110delinsIleGluVal"
          }
        }
      }
    },
    {
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      "coordinates": [
        {
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          "end": 434,
          "referenceAllele": "CCGAGGC",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
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        "LRG_429t1:c.323_329delinsTCGAGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Thr108_Ala110delinsIleGluVal",
        "hgvsWellDefined": "NP_001091.1:p.[Thr108Ile;Ala110Val]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475995",
      "coordinates": [
        {
          "allele": "TCGAGGT",
          "end": 432,
          "referenceAllele": "CCGAGGC",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.4:c.323_329delinsTCGAGGT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Thr108_Ala110delinsIleGluVal",
        "hgvsWellDefined": "NP_001091.1:p.[Thr108Ile;Ala110Val]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.323_329delinsTCGAGGT"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.323_329delinsTCGAGGT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Thr108_Ala110delinsIleGluVal"
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Thr108_Ala110delinsIleGluVal"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}