{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349114090", "communityStandardTitle": [ "NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3569666", "active": true, "id": "COSM3569666" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3569667", "active": true, "id": "COSM3569667" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2833963[alleleid]", "alleleId": 2833963, "preferredName": "NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2680236", "RCV": [ "RCV003474408" ], "variationId": 2680236 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.169826677G>A?assembly=hg19", "id": "chr2:g.169826677G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.168970167G>A?assembly=hg38", "id": "chr2:g.168970167G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1693517014", "rs": 1693517014 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-168970167-G-A?dataset=gnomad_r3", "id": "2-168970167-G-A", "variant": "2:168970167 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-168970167-G-A?dataset=gnomad_r4", "id": "2-168970167-G-A", "variant": "2:168970167 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 168970167, "referenceAllele": "G", "start": 168970166 } ], "hgvs": [ "NC_000002.12:g.168970167G>A", "CM000664.2:g.168970167G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 169826677, "referenceAllele": "G", "start": 169826676 } ], "hgvs": [ "NC_000002.11:g.169826677G>A", "CM000664.1:g.169826677G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 169534923, "referenceAllele": "G", "start": 169534922 } ], "hgvs": [ "NC_000002.10:g.169534923G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 66157, "referenceAllele": "C", "start": 66156 } ], "hgvs": [ "NG_007374.1:g.66157C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000551" }, { "coordinates": [ { "allele": "T", "end": 66230, "referenceAllele": "C", "start": 66229 } ], "hgvs": [ "NG_007374.2:g.66230C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616073" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4, "referenceAllele": "C", "start": 3 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000649448.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000497165.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000497165.1:p.Gln2_Ser780delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValAlaIleSerSerLeuIleSerValThrArgAsnValCysLeuLeuAsnSerHisHisProMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770549" }, { "coordinates": [ { "allele": "T", "end": 1814, "referenceAllele": "C", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000650372.1:c.1687C>T" ], "proteinEffect": { "hgvs": "ENSP00000497931.1:p.Gln563Ter", "hgvsWellDefined": "ENSP00000497931.1:p.Gln563_Ser1321delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771082", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.1687C>T" }, "RefSeq": { "hgvs": "NM_003742.4:c.1687C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Gln563Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Gln563Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1812, "referenceAllele": "C", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000263817.6:c.1687C>T" ], "proteinEffect": { "hgvs": "ENSP00000263817.6:p.Gln563Ter", "hgvsWellDefined": "ENSP00000263817.6:p.Gln563_Ser1321delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251351" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000439188.1:c.376C>T" ], "proteinEffect": { "hgvs": "ENSP00000416058.1:n.376C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295303" }, { "coordinates": [ { "allele": "T", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000478354.1:n.425C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318977" }, { "@id": "http://reg.genome.network/allele/PA2741905931", "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.2:c.1687C>T" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Gln563Ter", "hgvsWellDefined": "NP_003733.2:p.Gln563_Ser1321delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028963" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.2:c.1729C>T" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Gln577Ter", "hgvsWellDefined": "XP_006712880.1:p.Gln577_Ser1335delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069850" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Gln597Ter", "hgvsWellDefined": "XP_011510379.1:p.Gln597_Ser1355delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079335" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Gln597Ter", "hgvsWellDefined": "XP_011510380.1:p.Gln597_Ser1355delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079336" }, { "coordinates": [ { "allele": "T", "end": 1846, "referenceAllele": "C", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512079.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011510381.1:p.Gln597Ter", "hgvsWellDefined": "XP_011510381.1:p.Gln597_Ser1355delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079337" }, { "coordinates": [ { "allele": "T", "end": 1928, "referenceAllele": "C", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Gln597Ter", "hgvsWellDefined": "XP_011510382.1:p.Gln597_Arg936delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079338" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.1:c.13C>T" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Gln5Ter", "hgvsWellDefined": "XP_011510383.1:p.Gln5_Ser763delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079339" }, { "@id": "http://reg.genome.network/allele/PA2741905931", "coordinates": [ { "allele": "T", "end": 1814, "referenceAllele": "C", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.4:c.1687C>T" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Gln563Ter", "hgvsWellDefined": "NP_003733.2:p.Gln563_Ser1321delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.1687C>T" }, "RefSeq": { "hgvs": "NM_003742.4:c.1687C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Gln563Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Gln563Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1925, "referenceAllele": "C", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.3:c.1729C>T" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Gln577Ter", "hgvsWellDefined": "XP_006712880.1:p.Gln577_Ser1335delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538360" }, { "coordinates": [ { "allele": "T", "end": 1985, "referenceAllele": "C", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.2:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Gln597Ter", "hgvsWellDefined": "XP_011510379.1:p.Gln597_Ser1355delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542409" }, { "coordinates": [ { "allele": "T", "end": 1985, "referenceAllele": "C", "start": 1984 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.2:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Gln597Ter", "hgvsWellDefined": "XP_011510380.1:p.Gln597_Ser1355delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542410" }, { "coordinates": [ { "allele": "T", "end": 1988, "referenceAllele": "C", "start": 1987 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.2:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Gln597Ter", "hgvsWellDefined": "XP_011510382.1:p.Gln597_Arg936delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542411" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.2:c.13C>T" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Gln5Ter", "hgvsWellDefined": "XP_011510383.1:p.Gln5_Ser763delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542412" }, { "coordinates": [ { "allele": "T", "end": 1987, "referenceAllele": "C", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005165.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_016860654.1:p.Gln597Ter", "hgvsWellDefined": "XP_016860654.1:p.Gln597_Ser1314delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560508" }, { "coordinates": [ { "allele": "T", "end": 1111, "referenceAllele": "C", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005166.1:c.1018C>T" ], "proteinEffect": { "hgvs": "XP_016860655.1:p.Gln340Ter", "hgvsWellDefined": "XP_016860655.1:p.Gln340_Ser1098delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560509" }, { "coordinates": [ { "allele": "T", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005167.1:c.472C>T" ], "proteinEffect": { "hgvs": "XP_016860656.1:p.Gln158Ter", "hgvsWellDefined": "XP_016860656.1:p.Gln158_Ser916delinsLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560510" } ], "type": "nucleotide" }