{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042712",
  "communityStandardTitle": [
    "NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3434633",
        "active": true,
        "id": "COSM3434633"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359836[alleleid]",
        "alleleId": 359836,
        "preferredName": "NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372723",
        "RCV": [
          "RCV000412874",
          "RCV000460767",
          "RCV002429339"
        ],
        "variationId": 372723
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.121429450C>T?assembly=hg19",
        "id": "chr10:g.121429450C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.119669938C>T?assembly=hg38",
        "id": "chr10:g.119669938C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517945",
        "rs": 1057517945
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-119669938-C-T?dataset=gnomad_r4",
        "id": "10-119669938-C-T",
        "variant": "10:119669938 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 119669938,
          "referenceAllele": "C",
          "start": 119669937
        }
      ],
      "hgvs": [
        "NC_000010.11:g.119669938C>T",
        "CM000672.2:g.119669938C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 121429450,
          "referenceAllele": "C",
          "start": 121429449
        }
      ],
      "hgvs": [
        "NC_000010.10:g.121429450C>T",
        "CM000672.1:g.121429450C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 121419440,
          "referenceAllele": "C",
          "start": 121419439
        }
      ],
      "hgvs": [
        "NC_000010.9:g.121419440C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23569,
          "referenceAllele": "C",
          "start": 23568
        }
      ],
      "hgvs": [
        "NG_016125.1:g.23569C>T",
        "LRG_742:g.23569C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002965"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "ENST00000369085.8:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358081.4:p.Arg90Ter",
        "hgvsWellDefined": "ENSP00000358081.4:p.Arg90_Pro575delinsProGlyTyrIleProIleProValLeuHisGluGlyAlaGluAsnArgGlnValHisProPheHisValTyrProGlnProGlyMetGlnArgPheArgThrGluAlaAlaAlaAlaAlaProGlnArgSerGlnSerProLeuArgGlyMetProGluThrThrGlnProAspLysGlnCysGlyGlnValAlaAlaAlaAlaAlaAlaGlnProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369085.8:c.268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004281.4:c.268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358081.4:p.Arg90Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004272.2:p.Arg90Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "ENST00000369085.7:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358081.3:p.Arg90Ter",
        "hgvsWellDefined": "ENSP00000358081.3:p.Arg90_Pro575delinsProGlyTyrIleProIleProValLeuHisGluGlyAlaGluAsnArgGlnValHisProPheHisValTyrProGlnProGlyMetGlnArgPheArgThrGluAlaAlaAlaAlaAlaProGlnArgSerGlnSerProLeuArgGlyMetProGluThrThrGlnProAspLysGlnCysGlyGlnValAlaAlaAlaAlaAlaAlaGlnProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "ENST00000450186.1:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410036.1:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000410036.1:p.Arg32Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453935",
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "NM_004281.3:c.268C>T",
        "LRG_742t1:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004272.2:p.Arg90Ter",
        "hgvsWellDefined": "NP_004272.2:p.Arg90_Pro575delinsProGlyTyrIleProIleProValLeuHisGluGlyAlaGluAsnArgGlnValHisProPheHisValTyrProGlnProGlyMetGlnArgPheArgThrGluAlaAlaAlaAlaAlaProGlnArgSerGlnSerProLeuArgGlyMetProGluThrThrGlnProAspLysGlnCysGlyGlnValAlaAlaAlaAlaAlaAlaGlnProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "XM_005270287.1:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270344.1:p.Arg90Ter",
        "hgvsWellDefined": "XP_005270344.1:p.Arg90_Pro574delinsProGlyTyrIleProIleProValLeuHisGluGlyAlaGluAsnArgGlnValHisProPheHisValTyrProGlnProGlyMetGlnArgPheArgThrGluAlaAlaAlaAlaAlaProGlnArgSerGlnSerProLeuArgGlyMetProGluThrThrGlnProAspLysGlnCysGlyGlnValAlaAlaAlaAlaAlaAlaGlnProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "XM_005270287.2:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270344.1:p.Arg90Ter",
        "hgvsWellDefined": "XP_005270344.1:p.Arg90_Pro574delinsProGlyTyrIleProIleProValLeuHisGluGlyAlaGluAsnArgGlnValHisProPheHisValTyrProGlnProGlyMetGlnArgPheArgThrGluAlaAlaAlaAlaAlaProGlnArgSerGlnSerProLeuArgGlyMetProGluThrThrGlnProAspLysGlnCysGlyGlnValAlaAlaAlaAlaAlaAlaGlnProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453935",
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000939",
      "geneNCBI_id": 9531,
      "geneSymbol": "BAG3",
      "hgvs": [
        "NM_004281.4:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004272.2:p.Arg90Ter",
        "hgvsWellDefined": "NP_004272.2:p.Arg90_Pro575delinsProGlyTyrIleProIleProValLeuHisGluGlyAlaGluAsnArgGlnValHisProPheHisValTyrProGlnProGlyMetGlnArgPheArgThrGluAlaAlaAlaAlaAlaProGlnArgSerGlnSerProLeuArgGlyMetProGluThrThrGlnProAspLysGlnCysGlyGlnValAlaAlaAlaAlaAlaAlaGlnProProAlaSerHisGlyProGluArgSerGlnSerProAlaAlaSerAspCysSerSerSerSerSerSerAlaSerLeuProSerSerGlyArgSerSerLeuGlySerHisGlnLeuProArgGlyTyrIleSerIleProValIleHisGluGlnAsnValThrArgProAlaAlaGlnProSerPheHisGlnAlaGlnLysThrHisTyrProAlaGlnGlnGlyGluTyrGlnThrHisGlnProValTyrHisLysIleGlnGlyAspAspTrpGluProArgProLeuArgAlaAlaSerProPheArgSerSerValGlnGlyAlaSerSerArgGluGlySerProAlaArgSerSerThrProLeuHisSerProSerProIleArgValHisThrValValAspArgProGlnGlnProMetThrHisArgGluThrAlaProValSerGlnProGluAsnLysProGluSerLysProGlyProValGlyProGluLeuProProGlyHisIleProIleGlnValIleArgLysGluValAspSerLysProValSerGlnLysProProProProSerGluLysValGluValLysValProProAlaProValProCysProProProSerProGlyProSerAlaValProSerSerProLysSerValAlaThrGluGluArgAlaAlaProSerThrAlaProAlaGluAlaThrProProLysProGlyGluAlaGluAlaProProLysHisProGlyValLeuLysValGluAlaIleLeuGluLysValGlnGlyLeuGluGlnAlaValAspAsnPheGluGlyLysLysThrAspLysLysTyrLeuMetIleGluGluTyrLeuThrLysGluLeuLeuAlaLeuAspSerValAspProGluGlyArgAlaAspValArgGlnAlaArgArgAspGlyValArgLysValGlnThrIleLeuGluLysLeuGluGlnLysAlaIleAspValProGlyGlnValGlnValTyrGluLeuGlnProSerAsnLeuGluAlaAspGlnProLeuGlnAlaIleMetGluMetGlyAlaValAlaAlaAspLysGlyLysLysAsnAlaGlyAsnAlaGluAspProHisThrGluThrGlnGlnProGluAlaThrAlaAlaAlaThrSerAsnProSerSerMetThrAspThrProGlyAsnProAlaAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369085.8:c.268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004281.4:c.268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358081.4:p.Arg90Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004272.2:p.Arg90Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}