{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041588",
  "communityStandardTitle": [
    "NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358124[alleleid]",
        "alleleId": 358124,
        "preferredName": "NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370109",
        "RCV": [
          "RCV000410231"
        ],
        "variationId": 370109
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.76741404T>A?assembly=hg19",
        "id": "chr12:g.76741404T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.76347624T>A?assembly=hg38",
        "id": "chr12:g.76347624T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516240",
        "rs": 1057516240
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 76347624,
          "referenceAllele": "T",
          "start": 76347623
        }
      ],
      "hgvs": [
        "NC_000012.12:g.76347624T>A",
        "CM000674.2:g.76347624T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 76741404,
          "referenceAllele": "T",
          "start": 76741403
        }
      ],
      "hgvs": [
        "NC_000012.11:g.76741404T>A",
        "CM000674.1:g.76741404T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 75265535,
          "referenceAllele": "T",
          "start": 75265534
        }
      ],
      "hgvs": [
        "NC_000012.10:g.75265535T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5819,
          "referenceAllele": "A",
          "start": 5818
        }
      ],
      "hgvs": [
        "NG_016357.1:g.5819A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "A",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026291",
      "geneNCBI_id": 79738,
      "geneSymbol": "BBS10",
      "hgvs": [
        "ENST00000650064.2:c.361A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497413.1:p.Lys121Ter",
        "hgvsWellDefined": "ENSP00000497413.1:p.Lys121_Leu723delinsAsnCysSerArgTrpLysPheIleSerGlnAlaLeuLeuThrPheGlnThrGlnIleLeuAspGlyIleMetAspGlnTyrLeuSerArgHisPheLeuSerIlePheSerSerAlaLysGluArgThrLeuCysArgSerSerLeuGluLeuLeuLeuGluAlaTyrPheCysGlyArgValGlyArgAsnAsnHisLysPheIleSerGlnLeuMetCysAspTyrPhePheLysCysMetThrCysLysSerGlyIleGlyValPheGluLeuValAspAspHisPheValGluLeuAsnValGlyValThrGlyLeuProValSerAspSerArgIleIleAlaGlyLeuValLeuGlnLysAspPheSerValTyrArgProAlaAspGlyAspMetArgMetValIleValThrGluThrIleGlnProLeuPheSerThrSerGlySerGluPheIleLeuAsnSerGluAlaGlnPheGlnThrSerGlnPheTrpIleMetGluLysThrLysAlaIleMetLysHisLeuHisSerGlnAsnValLysLeuLeuIleSerSerValLysGlnProAspLeuValSerTyrTyrAlaGlyValAsnGlyIleSerValValGluCysLeuSerSerGluGluValSerLeuIleArgArgIleIleGlyLeuSerProPheValProProGlnAlaPheSerGlnCysGluIleProAsnThrAlaLeuValLysPheCysLysProLeuIleLeuArgSerLysArgTyrValHisLeuGlyLeuIleSerThrCysAlaPheIleProHisSerIleValLeuCysGlyProValHisGlyLeuIleGluGlnHisGluAspAlaLeuHisGlyAlaLeuLysMetLeuArgGlnLeuPheLysAspLeuAspLeuAsnTyrMetThrGlnThrAsnAspGlnAsnGlyThrSerSerLeuPheIleTyrLysAsnSerGlyGluSerTyrGlnAlaProAspProGlyAsnGlySerIleGlnArgProTyrGlnAspThrValAlaGluAsnLysAspAlaLeuGluLysThrGlnThrTyrLeuLysValHisSerAsnLeuValIleProAspValGluLeuGluThrTyrIleProTyrSerThrProThrLeuThrProThrAspThrPheGlnThrValGluThrLeuThrCysLeuSerLeuGluArgAsnArgLeuThrAspTyrTyrGluProLeuLeuLysAsnAsnSerThrAlaTyrSerThrArgGlyAsnArgIleGluIleSerTyrGluAsnLeuGlnValThrAsnIleThrArgLysGlySerMetLeuProValSerCysLysLeuProAsnMetGlyThrSerGlnSerTyrLeuSerSerSerMetProAlaGlyCysValLeuProValGlyGlyAsnPheGluIleLeuLeuHisTyrTyrLeuLeuAsnTyrAlaLysLysCysHisGlnSerGluGluThrMetValSerMetIleIleAlaAsnAlaLeuLeuGlyIleProLysValLeuTyrLysSerLysThrGlyLysTyrSerPheProHisThrTyrIleArgAlaValHisAlaLeuGlnThrAsnGlnProLeuValSerSerGlnThrGlyLeuGluSerValMetGlyLysTyrGlnLeuLeuThrSerValLeuGlnCysLeuThrLysIleLeuThrIleAspMetValIleThrValLysArgHisProGlnLysValHisAsnGlnAspSerGluAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770913",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650064.2:c.361A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024685.4:c.361A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497413.1:p.Lys121Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078961.3:p.Lys121Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026291",
      "geneNCBI_id": 79738,
      "geneSymbol": "BBS10",
      "hgvs": [
        "ENST00000393262.3:c.361A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376946.3:p.Lys121Ter",
        "hgvsWellDefined": "ENSP00000376946.3:p.Lys121_Leu723delinsAsnCysSerArgTrpLysPheIleSerGlnAlaLeuLeuThrPheGlnThrGlnIleLeuAspGlyIleMetAspGlnTyrLeuSerArgHisPheLeuSerIlePheSerSerAlaLysGluArgThrLeuCysArgSerSerLeuGluLeuLeuLeuGluAlaTyrPheCysGlyArgValGlyArgAsnAsnHisLysPheIleSerGlnLeuMetCysAspTyrPhePheLysCysMetThrCysLysSerGlyIleGlyValPheGluLeuValAspAspHisPheValGluLeuAsnValGlyValThrGlyLeuProValSerAspSerArgIleIleAlaGlyLeuValLeuGlnLysAspPheSerValTyrArgProAlaAspGlyAspMetArgMetValIleValThrGluThrIleGlnProLeuPheSerThrSerGlySerGluPheIleLeuAsnSerGluAlaGlnPheGlnThrSerGlnPheTrpIleMetGluLysThrLysAlaIleMetLysHisLeuHisSerGlnAsnValLysLeuLeuIleSerSerValLysGlnProAspLeuValSerTyrTyrAlaGlyValAsnGlyIleSerValValGluCysLeuSerSerGluGluValSerLeuIleArgArgIleIleGlyLeuSerProPheValProProGlnAlaPheSerGlnCysGluIleProAsnThrAlaLeuValLysPheCysLysProLeuIleLeuArgSerLysArgTyrValHisLeuGlyLeuIleSerThrCysAlaPheIleProHisSerIleValLeuCysGlyProValHisGlyLeuIleGluGlnHisGluAspAlaLeuHisGlyAlaLeuLysMetLeuArgGlnLeuPheLysAspLeuAspLeuAsnTyrMetThrGlnThrAsnAspGlnAsnGlyThrSerSerLeuPheIleTyrLysAsnSerGlyGluSerTyrGlnAlaProAspProGlyAsnGlySerIleGlnArgProTyrGlnAspThrValAlaGluAsnLysAspAlaLeuGluLysThrGlnThrTyrLeuLysValHisSerAsnLeuValIleProAspValGluLeuGluThrTyrIleProTyrSerThrProThrLeuThrProThrAspThrPheGlnThrValGluThrLeuThrCysLeuSerLeuGluArgAsnArgLeuThrAspTyrTyrGluProLeuLeuLysAsnAsnSerThrAlaTyrSerThrArgGlyAsnArgIleGluIleSerTyrGluAsnLeuGlnValThrAsnIleThrArgLysGlySerMetLeuProValSerCysLysLeuProAsnMetGlyThrSerGlnSerTyrLeuSerSerSerMetProAlaGlyCysValLeuProValGlyGlyAsnPheGluIleLeuLeuHisTyrTyrLeuLeuAsnTyrAlaLysLysCysHisGlnSerGluGluThrMetValSerMetIleIleAlaAsnAlaLeuLeuGlyIleProLysValLeuTyrLysSerLysThrGlyLysTyrSerPheProHisThrTyrIleArgAlaValHisAlaLeuGlnThrAsnGlnProLeuValSerSerGlnThrGlyLeuGluSerValMetGlyLysTyrGlnLeuLeuThrSerValLeuGlnCysLeuThrLysIleLeuThrIleAspMetValIleThrValLysArgHisProGlnLysValHisAsnGlnAspSerGluAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415167",
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026291",
      "geneNCBI_id": 79738,
      "geneSymbol": "BBS10",
      "hgvs": [
        "NM_024685.3:c.361A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078961.3:p.Lys121Ter",
        "hgvsWellDefined": "NP_078961.3:p.Lys121_Leu723delinsAsnCysSerArgTrpLysPheIleSerGlnAlaLeuLeuThrPheGlnThrGlnIleLeuAspGlyIleMetAspGlnTyrLeuSerArgHisPheLeuSerIlePheSerSerAlaLysGluArgThrLeuCysArgSerSerLeuGluLeuLeuLeuGluAlaTyrPheCysGlyArgValGlyArgAsnAsnHisLysPheIleSerGlnLeuMetCysAspTyrPhePheLysCysMetThrCysLysSerGlyIleGlyValPheGluLeuValAspAspHisPheValGluLeuAsnValGlyValThrGlyLeuProValSerAspSerArgIleIleAlaGlyLeuValLeuGlnLysAspPheSerValTyrArgProAlaAspGlyAspMetArgMetValIleValThrGluThrIleGlnProLeuPheSerThrSerGlySerGluPheIleLeuAsnSerGluAlaGlnPheGlnThrSerGlnPheTrpIleMetGluLysThrLysAlaIleMetLysHisLeuHisSerGlnAsnValLysLeuLeuIleSerSerValLysGlnProAspLeuValSerTyrTyrAlaGlyValAsnGlyIleSerValValGluCysLeuSerSerGluGluValSerLeuIleArgArgIleIleGlyLeuSerProPheValProProGlnAlaPheSerGlnCysGluIleProAsnThrAlaLeuValLysPheCysLysProLeuIleLeuArgSerLysArgTyrValHisLeuGlyLeuIleSerThrCysAlaPheIleProHisSerIleValLeuCysGlyProValHisGlyLeuIleGluGlnHisGluAspAlaLeuHisGlyAlaLeuLysMetLeuArgGlnLeuPheLysAspLeuAspLeuAsnTyrMetThrGlnThrAsnAspGlnAsnGlyThrSerSerLeuPheIleTyrLysAsnSerGlyGluSerTyrGlnAlaProAspProGlyAsnGlySerIleGlnArgProTyrGlnAspThrValAlaGluAsnLysAspAlaLeuGluLysThrGlnThrTyrLeuLysValHisSerAsnLeuValIleProAspValGluLeuGluThrTyrIleProTyrSerThrProThrLeuThrProThrAspThrPheGlnThrValGluThrLeuThrCysLeuSerLeuGluArgAsnArgLeuThrAspTyrTyrGluProLeuLeuLysAsnAsnSerThrAlaTyrSerThrArgGlyAsnArgIleGluIleSerTyrGluAsnLeuGlnValThrAsnIleThrArgLysGlySerMetLeuProValSerCysLysLeuProAsnMetGlyThrSerGlnSerTyrLeuSerSerSerMetProAlaGlyCysValLeuProValGlyGlyAsnPheGluIleLeuLeuHisTyrTyrLeuLeuAsnTyrAlaLysLysCysHisGlnSerGluGluThrMetValSerMetIleIleAlaAsnAlaLeuLeuGlyIleProLysValLeuTyrLysSerLysThrGlyLysTyrSerPheProHisThrTyrIleArgAlaValHisAlaLeuGlnThrAsnGlnProLeuValSerSerGlnThrGlyLeuGluSerValMetGlyLysTyrGlnLeuLeuThrSerValLeuGlnCysLeuThrLysIleLeuThrIleAspMetValIleThrValLysArgHisProGlnLysValHisAsnGlnAspSerGluAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415167",
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "A",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026291",
      "geneNCBI_id": 79738,
      "geneSymbol": "BBS10",
      "hgvs": [
        "NM_024685.4:c.361A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078961.3:p.Lys121Ter",
        "hgvsWellDefined": "NP_078961.3:p.Lys121_Leu723delinsAsnCysSerArgTrpLysPheIleSerGlnAlaLeuLeuThrPheGlnThrGlnIleLeuAspGlyIleMetAspGlnTyrLeuSerArgHisPheLeuSerIlePheSerSerAlaLysGluArgThrLeuCysArgSerSerLeuGluLeuLeuLeuGluAlaTyrPheCysGlyArgValGlyArgAsnAsnHisLysPheIleSerGlnLeuMetCysAspTyrPhePheLysCysMetThrCysLysSerGlyIleGlyValPheGluLeuValAspAspHisPheValGluLeuAsnValGlyValThrGlyLeuProValSerAspSerArgIleIleAlaGlyLeuValLeuGlnLysAspPheSerValTyrArgProAlaAspGlyAspMetArgMetValIleValThrGluThrIleGlnProLeuPheSerThrSerGlySerGluPheIleLeuAsnSerGluAlaGlnPheGlnThrSerGlnPheTrpIleMetGluLysThrLysAlaIleMetLysHisLeuHisSerGlnAsnValLysLeuLeuIleSerSerValLysGlnProAspLeuValSerTyrTyrAlaGlyValAsnGlyIleSerValValGluCysLeuSerSerGluGluValSerLeuIleArgArgIleIleGlyLeuSerProPheValProProGlnAlaPheSerGlnCysGluIleProAsnThrAlaLeuValLysPheCysLysProLeuIleLeuArgSerLysArgTyrValHisLeuGlyLeuIleSerThrCysAlaPheIleProHisSerIleValLeuCysGlyProValHisGlyLeuIleGluGlnHisGluAspAlaLeuHisGlyAlaLeuLysMetLeuArgGlnLeuPheLysAspLeuAspLeuAsnTyrMetThrGlnThrAsnAspGlnAsnGlyThrSerSerLeuPheIleTyrLysAsnSerGlyGluSerTyrGlnAlaProAspProGlyAsnGlySerIleGlnArgProTyrGlnAspThrValAlaGluAsnLysAspAlaLeuGluLysThrGlnThrTyrLeuLysValHisSerAsnLeuValIleProAspValGluLeuGluThrTyrIleProTyrSerThrProThrLeuThrProThrAspThrPheGlnThrValGluThrLeuThrCysLeuSerLeuGluArgAsnArgLeuThrAspTyrTyrGluProLeuLeuLysAsnAsnSerThrAlaTyrSerThrArgGlyAsnArgIleGluIleSerTyrGluAsnLeuGlnValThrAsnIleThrArgLysGlySerMetLeuProValSerCysLysLeuProAsnMetGlyThrSerGlnSerTyrLeuSerSerSerMetProAlaGlyCysValLeuProValGlyGlyAsnPheGluIleLeuLeuHisTyrTyrLeuLeuAsnTyrAlaLysLysCysHisGlnSerGluGluThrMetValSerMetIleIleAlaAsnAlaLeuLeuGlyIleProLysValLeuTyrLysSerLysThrGlyLysTyrSerPheProHisThrTyrIleArgAlaValHisAlaLeuGlnThrAsnGlnProLeuValSerSerGlnThrGlyLeuGluSerValMetGlyLysTyrGlnLeuLeuThrSerValLeuGlnCysLeuThrLysIleLeuThrIleAspMetValIleThrValLysArgHisProGlnLysValHisAsnGlnAspSerGluAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650064.2:c.361A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024685.4:c.361A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497413.1:p.Lys121Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078961.3:p.Lys121Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}