{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10587694",
  "communityStandardTitle": [
    "NM_004281.4(BAG3):c.481C>T (p.Gln161Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=258630[alleleid]",
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        "preferredName": "NM_004281.4(BAG3):c.481C>T (p.Gln161Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/264102",
        "RCV": [
          "RCV000244257"
        ],
        "variationId": 264102
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.121429663C>T?assembly=hg19",
        "id": "chr10:g.121429663C>T"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.119670151C>T?assembly=hg38",
        "id": "chr10:g.119670151C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886039044",
        "rs": 886039044
      }
    ]
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    {
      "chromosome": "10",
      "coordinates": [
        {
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          "start": 119670150
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "10",
      "coordinates": [
        {
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          "end": 121429663,
          "referenceAllele": "C",
          "start": 121429662
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
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          "end": 121419653,
          "referenceAllele": "C",
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      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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      ],
      "hgvs": [
        "NG_016125.1:g.23782C>T",
        "LRG_742:g.23782C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002965"
    }
  ],
  "transcriptAlleles": [
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750353",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_004281.4:c.481C>T"
          }
        },
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          }
        }
      }
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000358081.3:p.Gln161_Pro575delinsProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "ENST00000450186.1:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410036.1:p.Gln103Ter",
        "hgvsWellDefined": "ENSP00000410036.1:p.Gln103Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645454068",
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
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      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "NM_004281.3:c.481C>T",
        "LRG_742t1:c.481C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_004272.2:p.Gln161_Pro575delinsProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
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      "geneSymbol": "BAG3",
      "hgvs": [
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        "hgvsWellDefined": "XP_005270344.1:p.Gln161_Pro574delinsProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
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      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005270344.1:p.Gln161_Pro574delinsProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645454068",
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "NM_004281.4:c.481C>T"
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      "proteinEffect": {
        "hgvs": "NP_004272.2:p.Gln161Ter",
        "hgvsWellDefined": "NP_004272.2:p.Gln161_Pro575delinsProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369085.8:c.481C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004281.4:c.481C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358081.4:p.Gln161Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004272.2:p.Gln161Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}