{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA151133",
  "communityStandardTitle": [
    "NM_021978.4(ST14):c.2034del (p.Leu678PhefsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=131952[alleleid]",
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        "preferredName": "NM_021978.4(ST14):c.2034del (p.Leu678fs)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126420",
        "RCV": [
          "RCV000114360"
        ],
        "variationId": 126420
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.130078344del?assembly=hg19",
        "id": "chr11:g.130078344del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.130208449del?assembly=hg38",
        "id": "chr11:g.130208449del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777263",
        "rs": 587777263
      }
    ]
  },
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    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 130208449,
          "referenceAllele": "G",
          "start": 130208448
        }
      ],
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        "NC_000011.10:g.130208449del",
        "CM000673.2:g.130208449del"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 130078344,
          "referenceAllele": "G",
          "start": 130078343
        }
      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 129583554,
          "referenceAllele": "G",
          "start": 129583553
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53663,
          "referenceAllele": "G",
          "start": 53662
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      ],
      "hgvs": [
        "NG_012132.1:g.53663del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2232,
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          "start": 2231
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      ],
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      "geneNCBI_id": 6768,
      "geneSymbol": "ST14",
      "hgvs": [
        "ENST00000278742.6:c.2034del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278742.5:p.Leu678PhefsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743494",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000278742.6:c.2034del"
          },
          "RefSeq": {
            "hgvs": "NM_021978.4:c.2034del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278742.5:p.Leu678PhefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_068813.1:p.Leu678PhefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2452,
          "referenceAllele": "G",
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      "geneNCBI_id": 6768,
      "geneSymbol": "ST14",
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        "ENST00000278742.5:c.2034del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278742.5:p.Leu678PhefsTer?",
        "hgvsWellDefined": "ENSP00000278742.5:p.[Leu678_Ser685delinsPheThrThrArgAlaSerAla;Gly688_Glu691delinsLeuGlyCys;Arg693_Ile698delinsSerAlaGlySerSerAla;His700Ser;Phe702_Phe706delinsThrProSerSerMet;Phe708delinsSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2227,
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          "start": 2226
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      ],
      "gene": "http://reg.genome.network/gene/GN011344",
      "geneNCBI_id": 6768,
      "geneSymbol": "ST14",
      "hgvs": [
        "NM_021978.3:c.2034del"
      ],
      "proteinEffect": {
        "hgvs": "NP_068813.1:p.Leu678PhefsTer?",
        "hgvsWellDefined": "NP_068813.1:p.[Leu678_Ser685delinsPheThrThrArgAlaSerAla;Gly688_Glu691delinsLeuGlyCys;Arg693_Ile698delinsSerAlaGlySerSerAla;His700Ser;Phe702_Phe706delinsThrProSerSerMet;Phe708delinsSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037128"
    },
    {
      "coordinates": [
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          "allele": "",
          "end": 2232,
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      "gene": "http://reg.genome.network/gene/GN011344",
      "geneNCBI_id": 6768,
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      "hgvs": [
        "NM_021978.4:c.2034del"
      ],
      "proteinEffect": {
        "hgvs": "NP_068813.1:p.Leu678PhefsTer?",
        "hgvsWellDefined": "NP_068813.1:p.[Leu678_Ser685delinsPheThrThrArgAlaSerAla;Gly688_Glu691delinsLeuGlyCys;Arg693_Ile698delinsSerAlaGlySerSerAla;His700Ser;Phe702_Phe706delinsThrProSerSerMet;Phe708delinsSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000278742.6:c.2034del"
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          "RefSeq": {
            "hgvs": "NM_021978.4:c.2034del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000278742.5:p.Leu678PhefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_068813.1:p.Leu678PhefsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}