{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349113747", "communityStandardTitle": [ "NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2848841[alleleid]", "alleleId": 2848841, "preferredName": "NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2687804", "RCV": [ "RCV003485962" ], "variationId": 2687804 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.169826604G>T?assembly=hg19", "id": "chr2:g.169826604G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.168970094G>T?assembly=hg38", "id": "chr2:g.168970094G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2545383010", "rs": 2545383010 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 168970094, "referenceAllele": "G", "start": 168970093 } ], "hgvs": [ "NC_000002.12:g.168970094G>T", "CM000664.2:g.168970094G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 169826604, "referenceAllele": "G", "start": 169826603 } ], "hgvs": [ "NC_000002.11:g.169826604G>T", "CM000664.1:g.169826604G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 169534850, "referenceAllele": "G", "start": 169534849 } ], "hgvs": [ "NC_000002.10:g.169534850G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 66230, "referenceAllele": "C", "start": 66229 } ], "hgvs": [ "NG_007374.1:g.66230C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000551" }, { "coordinates": [ { "allele": "A", "end": 66303, "referenceAllele": "C", "start": 66302 } ], "hgvs": [ "NG_007374.2:g.66303C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616073" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 77, "referenceAllele": "C", "start": 76 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000649448.1:c.77C>A" ], "proteinEffect": { "hgvs": "ENSP00000497165.1:p.Ser26Ter", "hgvsWellDefined": "ENSP00000497165.1:p.Ser26_Ser780delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValAlaIleSerSerLeuIleSerValThrArgAsnValCysLeuLeuAsnSerHisHisProMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770549" }, { "coordinates": [ { "allele": "A", "end": 1887, "referenceAllele": "C", "start": 1886 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000650372.1:c.1760C>A" ], "proteinEffect": { "hgvs": "ENSP00000497931.1:p.Ser587Ter", "hgvsWellDefined": "ENSP00000497931.1:p.Ser587_Ser1321delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771082", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.1760C>A" }, "RefSeq": { "hgvs": "NM_003742.4:c.1760C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Ser587Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Ser587Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1885, "referenceAllele": "C", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000263817.6:c.1760C>A" ], "proteinEffect": { "hgvs": "ENSP00000263817.6:p.Ser587Ter", "hgvsWellDefined": "ENSP00000263817.6:p.Ser587_Ser1321delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251351" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000439188.1:c.449C>A" ], "proteinEffect": { "hgvs": "ENSP00000416058.1:n.449C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295303" }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000478354.1:n.498C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318977" }, { "@id": "http://reg.genome.network/allele/PA2741905934", "coordinates": [ { "allele": "A", "end": 1886, "referenceAllele": "C", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.2:c.1760C>A" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Ser587Ter", "hgvsWellDefined": "NP_003733.2:p.Ser587_Ser1321delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028963" }, { "coordinates": [ { "allele": "A", "end": 1937, "referenceAllele": "C", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.2:c.1802C>A" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Ser601Ter", "hgvsWellDefined": "XP_006712880.1:p.Ser601_Ser1335delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069850" }, { "coordinates": [ { "allele": "A", "end": 1997, "referenceAllele": "C", "start": 1996 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.1:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Ser621Ter", "hgvsWellDefined": "XP_011510379.1:p.Ser621_Ser1355delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079335" }, { "coordinates": [ { "allele": "A", "end": 1997, "referenceAllele": "C", "start": 1996 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.1:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Ser621Ter", "hgvsWellDefined": "XP_011510380.1:p.Ser621_Ser1355delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079336" }, { "coordinates": [ { "allele": "A", "end": 1919, "referenceAllele": "C", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512079.1:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_011510381.1:p.Ser621Ter", "hgvsWellDefined": "XP_011510381.1:p.Ser621_Ser1355delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079337" }, { "coordinates": [ { "allele": "A", "end": 2001, "referenceAllele": "C", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.1:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Ser621Ter", "hgvsWellDefined": "XP_011510382.1:p.Ser621_Arg936delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079338" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.1:c.86C>A" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Ser29Ter", "hgvsWellDefined": "XP_011510383.1:p.Ser29_Ser763delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079339" }, { "@id": "http://reg.genome.network/allele/PA2741905934", "coordinates": [ { "allele": "A", "end": 1887, "referenceAllele": "C", "start": 1886 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.4:c.1760C>A" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Ser587Ter", "hgvsWellDefined": "NP_003733.2:p.Ser587_Ser1321delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.1760C>A" }, "RefSeq": { "hgvs": "NM_003742.4:c.1760C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Ser587Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Ser587Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1998, "referenceAllele": "C", "start": 1997 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.3:c.1802C>A" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Ser601Ter", "hgvsWellDefined": "XP_006712880.1:p.Ser601_Ser1335delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538360" }, { "coordinates": [ { "allele": "A", "end": 2058, "referenceAllele": "C", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.2:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Ser621Ter", "hgvsWellDefined": "XP_011510379.1:p.Ser621_Ser1355delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542409" }, { "coordinates": [ { "allele": "A", "end": 2058, "referenceAllele": "C", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.2:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Ser621Ter", "hgvsWellDefined": "XP_011510380.1:p.Ser621_Ser1355delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542410" }, { "coordinates": [ { "allele": "A", "end": 2061, "referenceAllele": "C", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.2:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Ser621Ter", "hgvsWellDefined": "XP_011510382.1:p.Ser621_Arg936delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542411" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.2:c.86C>A" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Ser29Ter", "hgvsWellDefined": "XP_011510383.1:p.Ser29_Ser763delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542412" }, { "coordinates": [ { "allele": "A", "end": 2060, "referenceAllele": "C", "start": 2059 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005165.1:c.1862C>A" ], "proteinEffect": { "hgvs": "XP_016860654.1:p.Ser621Ter", "hgvsWellDefined": "XP_016860654.1:p.Ser621_Ser1314delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560508" }, { "coordinates": [ { "allele": "A", "end": 1184, "referenceAllele": "C", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005166.1:c.1091C>A" ], "proteinEffect": { "hgvs": "XP_016860655.1:p.Ser364Ter", "hgvsWellDefined": "XP_016860655.1:p.Ser364_Ser1098delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560509" }, { "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005167.1:c.545C>A" ], "proteinEffect": { "hgvs": "XP_016860656.1:p.Ser182Ter", "hgvsWellDefined": "XP_016860656.1:p.Ser182_Ser916delinsAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560510" } ], "type": "nucleotide" }