{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352289026",
  "communityStandardTitle": [
    "NM_152393.4(KLHL40):c.270C>G (p.Tyr90Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2741855[alleleid]",
        "alleleId": 2741855,
        "preferredName": "NM_152393.4(KLHL40):c.270C>G (p.Tyr90Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2576958",
        "RCV": [
          "RCV003777334"
        ],
        "variationId": 2576958
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.42727380C>G?assembly=hg19",
        "id": "chr3:g.42727380C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.42685888C>G?assembly=hg38",
        "id": "chr3:g.42685888C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1277851312",
        "rs": 1277851312
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 42685888,
          "referenceAllele": "C",
          "start": 42685887
        }
      ],
      "hgvs": [
        "NC_000003.12:g.42685888C>G",
        "CM000665.2:g.42685888C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 42727380,
          "referenceAllele": "C",
          "start": 42727379
        }
      ],
      "hgvs": [
        "NC_000003.11:g.42727380C>G",
        "CM000665.1:g.42727380C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 42702384,
          "referenceAllele": "C",
          "start": 42702383
        }
      ],
      "hgvs": [
        "NC_000003.10:g.42702384C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5370,
          "referenceAllele": "C",
          "start": 5369
        }
      ],
      "hgvs": [
        "NG_033035.1:g.5370C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005368"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "ENST00000287777.5:c.270C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287777.4:p.Tyr90Ter",
        "hgvsWellDefined": "ENSP00000287777.4:p.Tyr90_Met621delinsThrSerGluIleAlaLeuAspGluAlaSerValGlnAspLeuPheAlaAlaAlaHisArgPheGlnIleProSerIlePheThrIleCysValSerPheLeuGlnLysArgLeuCysLeuSerAsnCysLeuAlaValPheArgLeuGlyLeuLeuLeuAspCysAlaArgLeuAlaValAlaAlaArgAspPheIleCysAlaHisPheThrLeuValAlaArgAspAlaAspPheLeuGlyLeuSerAlaAspGluLeuIleAlaIleIleSerSerAspGlyLeuAsnValGluLysGluGluAlaValPheGluAlaValMetArgTrpAlaGlySerGlyAspAlaGluAlaGlnAlaGluArgGlnArgAlaLeuProThrValPheGluSerValArgCysArgLeuLeuProArgAlaPheLeuGluSerArgValGluArgHisProLeuValArgAlaGlnProGluLeuLeuArgLysValGlnMetValLysAspAlaHisGluGlyArgIleThrThrLeuArgLysLysLysLysGlyLysAspGlyAlaGlyAlaLysGluAlaAspLysGlyThrSerLysAlaLysAlaGluGluAspGluGluAlaGluArgIleLeuProGlyIleLeuAsnAspThrLeuArgPheGlyMetPheLeuGlnAspLeuIlePheMetIleSerGluGluGlyAlaValAlaTyrAspProAlaAlaAsnGluCysTyrCysAlaSerLeuSerAsnGlnValProLysAsnHisValSerLeuValThrLysGluAsnGlnValPheValAlaGlyGlyLeuPheTyrAsnGluAspAsnLysGluAspProMetSerAlaTyrPheLeuGlnPheAspHisLeuAspSerGluTrpLeuGlyMetProProLeuProSerProArgCysLeuPheGlyLeuGlyGluAlaLeuAsnSerIleTyrValValGlyGlyArgGluIleLysAspGlyGluArgCysLeuAspSerValMetCysTyrAspArgLeuSerPheLysTrpGlyGluSerAspProLeuProTyrValValTyrGlyHisThrValLeuSerHisMetAspLeuValTyrValIleGlyGlyLysGlySerAspArgLysCysLeuAsnLysMetCysValTyrAspProLysLysPheGluTrpLysGluLeuAlaProMetGlnThrAlaArgSerLeuPheGlyAlaThrValHisAspGlyArgIleIleValAlaAlaGlyValThrAspThrGlyLeuThrSerSerAlaGluValTyrSerIleThrAspAsnLysTrpAlaProPheGluAlaPheProGlnGluArgSerSerLeuSerLeuValSerLeuValGlyThrLeuTyrAlaIleGlyGlyPheAlaThrLeuGluThrGluSerGlyGluLeuValProThrGluLeuAsnAspIleTrpArgTyrAsnGluGluGluLysLysTrpGluGlyValLeuArgGluIleAlaTyrAlaAlaGlyAlaThrPheLeuProValArgLeuAsnValLeuCysLeuThrLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743917",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287777.5:c.270C>G"
          },
          "RefSeq": {
            "hgvs": "NM_152393.4:c.270C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287777.4:p.Tyr90Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689606.2:p.Tyr90Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "ENST00000287777.4:c.270C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287777.4:p.Tyr90Ter",
        "hgvsWellDefined": "ENSP00000287777.4:p.Tyr90_Met621delinsThrSerGluIleAlaLeuAspGluAlaSerValGlnAspLeuPheAlaAlaAlaHisArgPheGlnIleProSerIlePheThrIleCysValSerPheLeuGlnLysArgLeuCysLeuSerAsnCysLeuAlaValPheArgLeuGlyLeuLeuLeuAspCysAlaArgLeuAlaValAlaAlaArgAspPheIleCysAlaHisPheThrLeuValAlaArgAspAlaAspPheLeuGlyLeuSerAlaAspGluLeuIleAlaIleIleSerSerAspGlyLeuAsnValGluLysGluGluAlaValPheGluAlaValMetArgTrpAlaGlySerGlyAspAlaGluAlaGlnAlaGluArgGlnArgAlaLeuProThrValPheGluSerValArgCysArgLeuLeuProArgAlaPheLeuGluSerArgValGluArgHisProLeuValArgAlaGlnProGluLeuLeuArgLysValGlnMetValLysAspAlaHisGluGlyArgIleThrThrLeuArgLysLysLysLysGlyLysAspGlyAlaGlyAlaLysGluAlaAspLysGlyThrSerLysAlaLysAlaGluGluAspGluGluAlaGluArgIleLeuProGlyIleLeuAsnAspThrLeuArgPheGlyMetPheLeuGlnAspLeuIlePheMetIleSerGluGluGlyAlaValAlaTyrAspProAlaAlaAsnGluCysTyrCysAlaSerLeuSerAsnGlnValProLysAsnHisValSerLeuValThrLysGluAsnGlnValPheValAlaGlyGlyLeuPheTyrAsnGluAspAsnLysGluAspProMetSerAlaTyrPheLeuGlnPheAspHisLeuAspSerGluTrpLeuGlyMetProProLeuProSerProArgCysLeuPheGlyLeuGlyGluAlaLeuAsnSerIleTyrValValGlyGlyArgGluIleLysAspGlyGluArgCysLeuAspSerValMetCysTyrAspArgLeuSerPheLysTrpGlyGluSerAspProLeuProTyrValValTyrGlyHisThrValLeuSerHisMetAspLeuValTyrValIleGlyGlyLysGlySerAspArgLysCysLeuAsnLysMetCysValTyrAspProLysLysPheGluTrpLysGluLeuAlaProMetGlnThrAlaArgSerLeuPheGlyAlaThrValHisAspGlyArgIleIleValAlaAlaGlyValThrAspThrGlyLeuThrSerSerAlaGluValTyrSerIleThrAspAsnLysTrpAlaProPheGluAlaPheProGlnGluArgSerSerLeuSerLeuValSerLeuValGlyThrLeuTyrAlaIleGlyGlyPheAlaThrLeuGluThrGluSerGlyGluLeuValProThrGluLeuAsnAspIleTrpArgTyrAsnGluGluGluLysLysTrpGluGlyValLeuArgGluIleAlaTyrAlaAlaGlyAlaThrPheLeuProValArgLeuAsnValLeuCysLeuThrLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742017314",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "C",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "NM_152393.3:c.270C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689606.2:p.Tyr90Ter",
        "hgvsWellDefined": "NP_689606.2:p.Tyr90_Met621delinsThrSerGluIleAlaLeuAspGluAlaSerValGlnAspLeuPheAlaAlaAlaHisArgPheGlnIleProSerIlePheThrIleCysValSerPheLeuGlnLysArgLeuCysLeuSerAsnCysLeuAlaValPheArgLeuGlyLeuLeuLeuAspCysAlaArgLeuAlaValAlaAlaArgAspPheIleCysAlaHisPheThrLeuValAlaArgAspAlaAspPheLeuGlyLeuSerAlaAspGluLeuIleAlaIleIleSerSerAspGlyLeuAsnValGluLysGluGluAlaValPheGluAlaValMetArgTrpAlaGlySerGlyAspAlaGluAlaGlnAlaGluArgGlnArgAlaLeuProThrValPheGluSerValArgCysArgLeuLeuProArgAlaPheLeuGluSerArgValGluArgHisProLeuValArgAlaGlnProGluLeuLeuArgLysValGlnMetValLysAspAlaHisGluGlyArgIleThrThrLeuArgLysLysLysLysGlyLysAspGlyAlaGlyAlaLysGluAlaAspLysGlyThrSerLysAlaLysAlaGluGluAspGluGluAlaGluArgIleLeuProGlyIleLeuAsnAspThrLeuArgPheGlyMetPheLeuGlnAspLeuIlePheMetIleSerGluGluGlyAlaValAlaTyrAspProAlaAlaAsnGluCysTyrCysAlaSerLeuSerAsnGlnValProLysAsnHisValSerLeuValThrLysGluAsnGlnValPheValAlaGlyGlyLeuPheTyrAsnGluAspAsnLysGluAspProMetSerAlaTyrPheLeuGlnPheAspHisLeuAspSerGluTrpLeuGlyMetProProLeuProSerProArgCysLeuPheGlyLeuGlyGluAlaLeuAsnSerIleTyrValValGlyGlyArgGluIleLysAspGlyGluArgCysLeuAspSerValMetCysTyrAspArgLeuSerPheLysTrpGlyGluSerAspProLeuProTyrValValTyrGlyHisThrValLeuSerHisMetAspLeuValTyrValIleGlyGlyLysGlySerAspArgLysCysLeuAsnLysMetCysValTyrAspProLysLysPheGluTrpLysGluLeuAlaProMetGlnThrAlaArgSerLeuPheGlyAlaThrValHisAspGlyArgIleIleValAlaAlaGlyValThrAspThrGlyLeuThrSerSerAlaGluValTyrSerIleThrAspAsnLysTrpAlaProPheGluAlaPheProGlnGluArgSerSerLeuSerLeuValSerLeuValGlyThrLeuTyrAlaIleGlyGlyPheAlaThrLeuGluThrGluSerGlyGluLeuValProThrGluLeuAsnAspIleTrpArgTyrAsnGluGluGluLysLysTrpGluGlyValLeuArgGluIleAlaTyrAlaAlaGlyAlaThrPheLeuProValArgLeuAsnValLeuCysLeuThrLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "XM_005264866.2:c.270C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264923.1:p.Tyr90Ter",
        "hgvsWellDefined": "XP_005264923.1:p.Tyr90_Met585delinsThrSerGluIleAlaLeuAspGluAlaSerValGlnAspLeuPheAlaAlaAlaHisArgPheGlnIleProSerIlePheThrIleCysValSerPheLeuGlnLysArgLeuCysLeuSerAsnCysLeuAlaValPheArgLeuGlyLeuLeuLeuAspCysAlaArgLeuAlaValAlaAlaArgAspPheIleCysAlaHisPheThrLeuValAlaArgAspAlaAspPheLeuGlyLeuSerAlaAspGluLeuIleAlaIleIleSerSerAspGlyLeuAsnValGluLysGluGluAlaValPheGluAlaValMetArgTrpAlaGlySerGlyAspAlaGluAlaGlnAlaGluArgGlnArgAlaLeuProThrValPheGluSerValArgCysArgLeuLeuProArgAlaPheLeuGluSerArgValGluArgHisProLeuValArgAlaGlnProGluLeuLeuArgLysValGlnMetValLysAspAlaHisGluGlyArgIleThrThrLeuArgLysLysLysLysGlyLysAspGlyAlaGlyAlaLysGluAlaAspLysGlyThrSerLysAlaLysAlaGluGluAspGluGluAlaGluArgIleLeuProGlyIleLeuAsnAspThrLeuArgPheGlyMetPheLeuGlnAspLeuIlePheMetIleSerGluGluGlyAlaValAlaTyrAspProAlaAlaAsnGluCysTyrCysAlaSerLeuSerAsnGlnValProLysAsnHisValSerLeuValThrLysGluAsnGlnValPheValAlaGlyGlyLeuPheTyrAsnGluAspAsnLysGluAspProMetSerAlaTyrPheLeuGlnPheAspHisLeuAspSerGluTrpLeuGlyMetProProLeuProSerProArgCysLeuPheGlyLeuGlyGluAlaLeuAsnSerIleTyrValValGlyGlyArgGluIleLysAspGlyGluArgCysLeuAspSerValMetCysTyrAspArgLeuLysCysLeuAsnLysMetCysValTyrAspProLysLysPheGluTrpLysGluLeuAlaProMetGlnThrAlaArgSerLeuPheGlyAlaThrValHisAspGlyArgIleIleValAlaAlaGlyValThrAspThrGlyLeuThrSerSerAlaGluValTyrSerIleThrAspAsnLysTrpAlaProPheGluAlaPheProGlnGluArgSerSerLeuSerLeuValSerLeuValGlyThrLeuTyrAlaIleGlyGlyPheAlaThrLeuGluThrGluSerGlyGluLeuValProThrGluLeuAsnAspIleTrpArgTyrAsnGluGluGluLysLysTrpGluGlyValLeuArgGluIleAlaTyrAlaAlaGlyAlaThrPheLeuProValArgLeuAsnValLeuCysLeuThrLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742017314",
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "NM_152393.4:c.270C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689606.2:p.Tyr90Ter",
        "hgvsWellDefined": "NP_689606.2:p.Tyr90_Met621delinsThrSerGluIleAlaLeuAspGluAlaSerValGlnAspLeuPheAlaAlaAlaHisArgPheGlnIleProSerIlePheThrIleCysValSerPheLeuGlnLysArgLeuCysLeuSerAsnCysLeuAlaValPheArgLeuGlyLeuLeuLeuAspCysAlaArgLeuAlaValAlaAlaArgAspPheIleCysAlaHisPheThrLeuValAlaArgAspAlaAspPheLeuGlyLeuSerAlaAspGluLeuIleAlaIleIleSerSerAspGlyLeuAsnValGluLysGluGluAlaValPheGluAlaValMetArgTrpAlaGlySerGlyAspAlaGluAlaGlnAlaGluArgGlnArgAlaLeuProThrValPheGluSerValArgCysArgLeuLeuProArgAlaPheLeuGluSerArgValGluArgHisProLeuValArgAlaGlnProGluLeuLeuArgLysValGlnMetValLysAspAlaHisGluGlyArgIleThrThrLeuArgLysLysLysLysGlyLysAspGlyAlaGlyAlaLysGluAlaAspLysGlyThrSerLysAlaLysAlaGluGluAspGluGluAlaGluArgIleLeuProGlyIleLeuAsnAspThrLeuArgPheGlyMetPheLeuGlnAspLeuIlePheMetIleSerGluGluGlyAlaValAlaTyrAspProAlaAlaAsnGluCysTyrCysAlaSerLeuSerAsnGlnValProLysAsnHisValSerLeuValThrLysGluAsnGlnValPheValAlaGlyGlyLeuPheTyrAsnGluAspAsnLysGluAspProMetSerAlaTyrPheLeuGlnPheAspHisLeuAspSerGluTrpLeuGlyMetProProLeuProSerProArgCysLeuPheGlyLeuGlyGluAlaLeuAsnSerIleTyrValValGlyGlyArgGluIleLysAspGlyGluArgCysLeuAspSerValMetCysTyrAspArgLeuSerPheLysTrpGlyGluSerAspProLeuProTyrValValTyrGlyHisThrValLeuSerHisMetAspLeuValTyrValIleGlyGlyLysGlySerAspArgLysCysLeuAsnLysMetCysValTyrAspProLysLysPheGluTrpLysGluLeuAlaProMetGlnThrAlaArgSerLeuPheGlyAlaThrValHisAspGlyArgIleIleValAlaAlaGlyValThrAspThrGlyLeuThrSerSerAlaGluValTyrSerIleThrAspAsnLysTrpAlaProPheGluAlaPheProGlnGluArgSerSerLeuSerLeuValSerLeuValGlyThrLeuTyrAlaIleGlyGlyPheAlaThrLeuGluThrGluSerGlyGluLeuValProThrGluLeuAsnAspIleTrpArgTyrAsnGluGluGluLysLysTrpGluGlyValLeuArgGluIleAlaTyrAlaAlaGlyAlaThrPheLeuProValArgLeuAsnValLeuCysLeuThrLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287777.5:c.270C>G"
          },
          "RefSeq": {
            "hgvs": "NM_152393.4:c.270C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287777.4:p.Tyr90Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689606.2:p.Tyr90Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}