{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390650374",
  "communityStandardTitle": [
    "NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679926[alleleid]",
        "alleleId": 679926,
        "preferredName": "NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692173",
        "RCV": [
          "RCV000853520"
        ],
        "variationId": 692173
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.92470193G>T?assembly=hg19",
        "id": "chr14:g.92470193G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.92003849G>T?assembly=hg38",
        "id": "chr14:g.92003849G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1045076800",
        "rs": 1045076800
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 92003849,
          "referenceAllele": "G",
          "start": 92003848
        }
      ],
      "hgvs": [
        "NC_000014.9:g.92003849G>T",
        "CM000676.2:g.92003849G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 92470193,
          "referenceAllele": "G",
          "start": 92470192
        }
      ],
      "hgvs": [
        "NC_000014.8:g.92470193G>T",
        "CM000676.1:g.92470193G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 91539946,
          "referenceAllele": "G",
          "start": 91539945
        }
      ],
      "hgvs": [
        "NC_000014.7:g.91539946G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41211,
          "referenceAllele": "C",
          "start": 41210
        }
      ],
      "hgvs": [
        "NG_016970.1:g.41211C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003339"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4501,
          "referenceAllele": "C",
          "start": 4500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000267622.8:c.4127C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267622.4:p.Ser1376Ter",
        "hgvsWellDefined": "ENSP00000267622.4:p.Ser1376_Gln1979delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.4127C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.4127C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:p.Ser1376Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:p.Ser1376Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3273,
          "referenceAllele": "C",
          "start": 3272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "ENST00000554357.5:c.3273C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008065",
      "coordinates": [
        {
          "allele": "A",
          "end": 4501,
          "referenceAllele": "C",
          "start": 4500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.3:c.4127C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:p.Ser1376Ter",
        "hgvsWellDefined": "NP_004230.2:p.Ser1376_Gln1979delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2901,
          "referenceAllele": "C",
          "start": 2900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268214.2:c.2801C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268271.1:p.Ser934Ter",
        "hgvsWellDefined": "XP_005268271.1:p.Ser934_Gln1537delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "endIntronDirection": "-",
          "endIntronOffset": 3740,
          "referenceAllele": "C",
          "start": 1982,
          "startIntronDirection": "-",
          "startIntronOffset": 3741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_005268215.2:c.1528-3741C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268272.1:n.1528-3741C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4579,
          "referenceAllele": "C",
          "start": 4578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_006720321.2:c.4124C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720384.1:p.Ser1375Ter",
        "hgvsWellDefined": "XP_006720384.1:p.Ser1375_Gln1978delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4582,
          "referenceAllele": "C",
          "start": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_011537361.1:c.4127C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535663.1:p.Ser1376Ter",
        "hgvsWellDefined": "XP_011535663.1:p.Ser1376_Cys1638delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaArgGlyLysSerTyrValPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4582,
          "referenceAllele": "C",
          "start": 4581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_943560.1:n.4582C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827082202",
      "coordinates": [
        {
          "allele": "A",
          "end": 4498,
          "referenceAllele": "C",
          "start": 4497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_001321851.1:c.4124C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308780.1:p.Ser1375Ter",
        "hgvsWellDefined": "NP_001308780.1:p.Ser1375_Gln1978delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008065",
      "coordinates": [
        {
          "allele": "A",
          "end": 4501,
          "referenceAllele": "C",
          "start": 4500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "NM_004239.4:c.4127C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004230.2:p.Ser1376Ter",
        "hgvsWellDefined": "NP_004230.2:p.Ser1376_Gln1979delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267622.8:c.4127C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004239.4:c.4127C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267622.4:p.Ser1376Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004230.2:p.Ser1376Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4533,
          "referenceAllele": "C",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021787.2:c.3422C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877276.1:p.Ser1141Ter",
        "hgvsWellDefined": "XP_016877276.1:p.Ser1141_Gln1744delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4373,
          "referenceAllele": "C",
          "start": 4372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XM_017021788.2:c.2801C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877277.1:p.Ser934Ter",
        "hgvsWellDefined": "XP_016877277.1:p.Ser934_Gln1537delinsIleAlaAlaThrSerGluLeuGluArgLysGluHisGluGlnThrAspSerGluIleLysGlnLeuLysGluLysGlnAspValLeuGlnLysLeuLeuLysGluLysAspLeuLeuIleLysAlaLysSerAspGlnLeuLeuSerSerAsnGluAsnPheThrAsnLysValAsnGluAsnGluLeuLeuArgGlnAlaValThrAsnLeuLysGluArgIleLeuIleLeuGluMetAspIleGlyLysLeuLysGlyGluAsnGluLysIleValGluThrTyrArgGlyLysGluThrGluTyrGlnAlaLeuGlnGluThrAsnMetLysPheSerMetMetLeuArgGluLysGluPheGluCysHisSerMetLysGluLysAlaLeuAlaPheGluGlnLeuLeuLysGluLysGluGlnGlyLysThrGlyGluLeuAsnGlnLeuLeuAsnAlaValLysSerMetGlnGluLysThrValValPheGlnGlnGluArgAspGlnValMetLeuAlaLeuLysGlnLysGlnMetGluAsnThrAlaLeuGlnAsnGluValGlnArgLeuArgAspLysGluPheArgSerAsnGlnGluLeuGluArgLeuArgAsnHisLeuLeuGluSerGluAspSerTyrThrArgGluAlaLeuAlaAlaGluAspArgGluAlaLysLeuArgLysLysValThrValLeuGluGluLysLeuValSerSerSerAsnAlaMetGluAsnAlaSerHisGlnAlaSerValGlnValGluSerLeuGlnGluGlnLeuAsnValValSerLysGlnArgAspGluThrAlaLeuGlnLeuSerValSerGlnGluGlnValLysGlnTyrAlaLeuSerLeuAlaAsnLeuGlnMetValLeuGluHisPheGlnGlnGluGluLysAlaMetTyrSerAlaGluLeuGluLysGlnLysGlnLeuIleAlaGluTrpLysLysAsnAlaGluAsnLeuGluGlyLysValIleSerLeuGlnGluCysLeuAspGluAlaAsnAlaAlaLeuAspSerAlaSerArgLeuThrGluGlnLeuAspValLysGluGluGlnIleGluGluLeuLysArgGlnAsnGluLeuArgGlnGluMetLeuAspAspValGlnLysLysLeuMetSerLeuAlaAsnSerSerGluGlyLysValAspLysValLeuMetArgAsnLeuPheIleGlyHisPheHisThrProLysAsnGlnArgHisGluValLeuArgLeuMetGlySerIleLeuGlyValArgArgGluGluMetGluGlnLeuPheHisAspAspGlnGlyGlyValThrArgTrpMetThrGlyTrpLeuGlyGlyGlySerLysSerValProAsnThrProLeuArgProAsnGlnGlnSerValValAsnSerSerPheSerGluLeuPheValLysPheLeuGluThrGluSerHisProSerIleProProProLysLeuSerValHisAspMetLysProLeuAspSerProGlyArgArgLysArgAspThrAsnAlaProGluSerPheLysAspThrAlaGluSerArgSerGlyArgArgThrAspValAsnProPheLeuAlaProArgSerAlaAlaValProLeuIleAsnProAlaGlyLeuGlyProGlyGlyProGlyHisLeuLeuLeuLysProIleSerAspValLeuProThrPheThrProLeuProAlaLeuProAspAsnSerAlaGlyValValLeuLysAspLeuLeuLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4576,
          "referenceAllele": "C",
          "start": 4575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_001750598.2:n.4576C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4576,
          "referenceAllele": "C",
          "start": 4575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012305",
      "geneNCBI_id": 9321,
      "geneSymbol": "TRIP11",
      "hgvs": [
        "XR_943560.2:n.4576C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613445"
    }
  ],
  "type": "nucleotide"
}