{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16616898", "communityStandardTitle": [ "NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404753[alleleid]", "alleleId": 404753, "preferredName": "NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/417884", "RCV": [ "RCV000477943", "RCV000728860", "RCV001835812", "RCV003401507", "RCV003476146" ], "variationId": 417884 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.169801435G>A?assembly=hg19", "id": "chr2:g.169801435G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.168944925G>A?assembly=hg38", "id": "chr2:g.168944925G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499579", "rs": 1060499579 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-169801435-G-A?dataset=gnomad_r2_1", "id": "2-169801435-G-A", "variant": "2:169801435 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-168944925-G-A?dataset=gnomad_r3", "id": "2-168944925-G-A", "variant": "2:168944925 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-168944925-G-A?dataset=gnomad_r4", "id": "2-168944925-G-A", "variant": "2:168944925 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 168944925, "referenceAllele": "G", "start": 168944924 } ], "hgvs": [ "NC_000002.12:g.168944925G>A", "CM000664.2:g.168944925G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 169801435, "referenceAllele": "G", "start": 169801434 } ], "hgvs": [ "NC_000002.11:g.169801435G>A", "CM000664.1:g.169801435G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 169509681, "referenceAllele": "G", "start": 169509680 } ], "hgvs": [ "NC_000002.10:g.169509681G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 91399, "referenceAllele": "C", "start": 91398 } ], "hgvs": [ "NG_007374.1:g.91399C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000551" }, { "coordinates": [ { "allele": "T", "end": 91472, "referenceAllele": "C", "start": 91471 } ], "hgvs": [ "NG_007374.2:g.91472C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616073" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000649448.1:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000497165.1:p.Gln233Ter", "hgvsWellDefined": "ENSP00000497165.1:p.Gln233_Ser780delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValAlaIleSerSerLeuIleSerValThrArgAsnValCysLeuLeuAsnSerHisHisProMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770549" }, { "coordinates": [ { "allele": "T", "end": 2507, "referenceAllele": "C", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000650372.1:c.2380C>T" ], "proteinEffect": { "hgvs": "ENSP00000497931.1:p.Gln794Ter", "hgvsWellDefined": "ENSP00000497931.1:p.Gln794_Ser1321delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771082", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.2380C>T" }, "RefSeq": { "hgvs": "NM_003742.4:c.2380C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Gln794Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Gln794Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000263817.6:c.2380C>T" ], "proteinEffect": { "hgvs": "ENSP00000263817.6:p.Gln794Ter", "hgvsWellDefined": "ENSP00000263817.6:p.Gln794_Ser1321delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251351" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000439188.1:c.1069C>T" ], "proteinEffect": { "hgvs": "ENSP00000416058.1:n.1069C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295303" }, { "@id": "http://reg.genome.network/allele/PA645509556", "coordinates": [ { "allele": "T", "end": 2506, "referenceAllele": "C", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.2:c.2380C>T" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Gln794Ter", "hgvsWellDefined": "NP_003733.2:p.Gln794_Ser1321delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028963" }, { "coordinates": [ { "allele": "T", "end": 2557, "referenceAllele": "C", "start": 2556 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.2:c.2422C>T" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Gln808Ter", "hgvsWellDefined": "XP_006712880.1:p.Gln808_Ser1335delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069850" }, { "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.1:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Gln828Ter", "hgvsWellDefined": "XP_011510379.1:p.Gln828_Ser1355delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079335" }, { "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.1:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Gln828Ter", "hgvsWellDefined": "XP_011510380.1:p.Gln828_Ser1355delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079336" }, { "coordinates": [ { "allele": "T", "end": 2539, "referenceAllele": "C", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512079.1:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_011510381.1:p.Gln828Ter", "hgvsWellDefined": "XP_011510381.1:p.Gln828_Ser1355delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079337" }, { "coordinates": [ { "allele": "T", "end": 2621, "referenceAllele": "C", "start": 2620 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.1:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Gln828Ter", "hgvsWellDefined": "XP_011510382.1:p.Gln828_Arg936delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079338" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.1:c.706C>T" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Gln236Ter", "hgvsWellDefined": "XP_011510383.1:p.Gln236_Ser763delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079339" }, { "@id": "http://reg.genome.network/allele/PA645509556", "coordinates": [ { "allele": "T", "end": 2507, "referenceAllele": "C", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.4:c.2380C>T" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Gln794Ter", "hgvsWellDefined": "NP_003733.2:p.Gln794_Ser1321delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.2380C>T" }, "RefSeq": { "hgvs": "NM_003742.4:c.2380C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Gln794Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Gln794Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2618, "referenceAllele": "C", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.3:c.2422C>T" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Gln808Ter", "hgvsWellDefined": "XP_006712880.1:p.Gln808_Ser1335delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538360" }, { "coordinates": [ { "allele": "T", "end": 2678, "referenceAllele": "C", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.2:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Gln828Ter", "hgvsWellDefined": "XP_011510379.1:p.Gln828_Ser1355delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542409" }, { "coordinates": [ { "allele": "T", "end": 2678, "referenceAllele": "C", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.2:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Gln828Ter", "hgvsWellDefined": "XP_011510380.1:p.Gln828_Ser1355delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542410" }, { "coordinates": [ { "allele": "T", "end": 2681, "referenceAllele": "C", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.2:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Gln828Ter", "hgvsWellDefined": "XP_011510382.1:p.Gln828_Arg936delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542411" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "C", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.2:c.706C>T" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Gln236Ter", "hgvsWellDefined": "XP_011510383.1:p.Gln236_Ser763delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542412" }, { "coordinates": [ { "allele": "T", "end": 2680, "referenceAllele": "C", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005165.1:c.2482C>T" ], "proteinEffect": { "hgvs": "XP_016860654.1:p.Gln828Ter", "hgvsWellDefined": "XP_016860654.1:p.Gln828_Ser1314delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560508" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005166.1:c.1711C>T" ], "proteinEffect": { "hgvs": "XP_016860655.1:p.Gln571Ter", "hgvsWellDefined": "XP_016860655.1:p.Gln571_Ser1098delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560509" }, { "coordinates": [ { "allele": "T", "end": 1362, "referenceAllele": "C", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005167.1:c.1165C>T" ], "proteinEffect": { "hgvs": "XP_016860656.1:p.Gln389Ter", "hgvsWellDefined": "XP_016860656.1:p.Gln389_Ser916delinsIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560510" } ], "type": "nucleotide" }