{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349115171",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2837826[alleleid]",
        "alleleId": 2837826,
        "preferredName": "NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676819",
        "RCV": [
          "RCV003461951",
          "RCV003699110"
        ],
        "variationId": 2676819
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169828359G>A?assembly=hg19",
        "id": "chr2:g.169828359G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168971849G>A?assembly=hg38",
        "id": "chr2:g.168971849G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111482608",
        "rs": 111482608
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 168971849,
          "referenceAllele": "G",
          "start": 168971848
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168971849G>A",
        "CM000664.2:g.168971849G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169828359,
          "referenceAllele": "G",
          "start": 169828358
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169828359G>A",
        "CM000664.1:g.169828359G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169536605,
          "referenceAllele": "G",
          "start": 169536604
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169536605G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64475,
          "referenceAllele": "C",
          "start": 64474
        }
      ],
      "hgvs": [
        "NG_007374.1:g.64475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64548,
          "referenceAllele": "C",
          "start": 64547
        }
      ],
      "hgvs": [
        "NG_007374.2:g.64548C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1763,
          "referenceAllele": "C",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.1636C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Gln546Ter",
        "hgvsWellDefined": "ENSP00000497931.1:p.Gln547_Ser1321delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1636C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1636C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Gln546Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Gln546Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "C",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.1636C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Gln546Ter",
        "hgvsWellDefined": "ENSP00000263817.6:p.Gln547_Ser1321delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:p.Gln62Ter",
        "hgvsWellDefined": "ENSP00000416058.1:p.Gln62_Gln72delinsGlyTyrPhePheGlnTrpLysSerGluGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905927",
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.1636C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Gln546Ter",
        "hgvsWellDefined": "NP_003733.2:p.Gln547_Ser1321delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1813,
          "referenceAllele": "C",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.1678C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Gln560Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Gln561_Ser1335delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1873,
          "referenceAllele": "C",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Gln581_Ser1355delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1873,
          "referenceAllele": "C",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Gln581_Ser1355delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_011510381.1:p.Gln581_Ser1355delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1877,
          "referenceAllele": "C",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Gln581_Arg936delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.-180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:n.-180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905927",
      "coordinates": [
        {
          "allele": "T",
          "end": 1763,
          "referenceAllele": "C",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.1636C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Gln546Ter",
        "hgvsWellDefined": "NP_003733.2:p.Gln547_Ser1321delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1636C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1636C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Gln546Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Gln546Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1874,
          "referenceAllele": "C",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.1678C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Gln560Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Gln561_Ser1335delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1934,
          "referenceAllele": "C",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Gln581_Ser1355delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1934,
          "referenceAllele": "C",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Gln581_Ser1355delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1937,
          "referenceAllele": "C",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Gln581_Arg936delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.-180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:n.-180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1936,
          "referenceAllele": "C",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Gln580Ter",
        "hgvsWellDefined": "XP_016860654.1:p.Gln581_Ser1314delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.967C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Gln323Ter",
        "hgvsWellDefined": "XP_016860655.1:p.Gln324_Ser1098delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Gln141Ter",
        "hgvsWellDefined": "XP_016860656.1:p.Gln142_Ser916delinsPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}