{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1951195", "communityStandardTitle": [ "NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=491891[alleleid]", "alleleId": 491891, "preferredName": "NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/500467", "RCV": [ "RCV000593762", "RCV003459472" ], "variationId": 500467 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-169792772-G-A", "id": "2-169792772-G-A", "variant": "2:169792772 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.169792772G>A?assembly=hg19", "id": "chr2:g.169792772G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.168936262G>A?assembly=hg38", "id": "chr2:g.168936262G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/756529333", "rs": 756529333 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-169792772-G-A?dataset=gnomad_r2_1", "id": "2-169792772-G-A", "variant": "2:169792772 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-168936262-G-A?dataset=gnomad_r3", "id": "2-168936262-G-A", "variant": "2:168936262 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-168936262-G-A?dataset=gnomad_r4", "id": "2-168936262-G-A", "variant": "2:168936262 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 168936262, "referenceAllele": "G", "start": 168936261 } ], "hgvs": [ "NC_000002.12:g.168936262G>A", "CM000664.2:g.168936262G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 169792772, "referenceAllele": "G", "start": 169792771 } ], "hgvs": [ "NC_000002.11:g.169792772G>A", "CM000664.1:g.169792772G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 169501018, "referenceAllele": "G", "start": 169501017 } ], "hgvs": [ "NC_000002.10:g.169501018G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 100062, "referenceAllele": "C", "start": 100061 } ], "hgvs": [ "NG_007374.1:g.100062C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000551" }, { "coordinates": [ { "allele": "T", "end": 100135, "referenceAllele": "C", "start": 100134 } ], "hgvs": [ "NG_007374.2:g.100135C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616073" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1099, "referenceAllele": "C", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000649448.1:c.1099C>T" ], "proteinEffect": { "hgvs": "ENSP00000497165.1:p.Arg367Ter", "hgvsWellDefined": "ENSP00000497165.1:p.Arg367_Ser780delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValAlaIleSerSerLeuIleSerValThrArgAsnValCysLeuLeuAsnSerHisHisProMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770549" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "C", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000650372.1:c.2782C>T" ], "proteinEffect": { "hgvs": "ENSP00000497931.1:p.Arg928Ter", "hgvsWellDefined": "ENSP00000497931.1:p.Arg928_Ser1321delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771082", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.2782C>T" }, "RefSeq": { "hgvs": "NM_003742.4:c.2782C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Arg928Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Arg928Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2907, "referenceAllele": "C", "start": 2906 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000263817.6:c.2782C>T" ], "proteinEffect": { "hgvs": "ENSP00000263817.6:p.Arg928Ter", "hgvsWellDefined": "ENSP00000263817.6:p.Arg928_Ser1321delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251351" }, { "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "ENST00000439188.1:c.1471C>T" ], "proteinEffect": { "hgvs": "ENSP00000416058.1:n.1471C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295303" }, { "@id": "http://reg.genome.network/allele/PA658811457", "coordinates": [ { "allele": "T", "end": 2908, "referenceAllele": "C", "start": 2907 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.2:c.2782C>T" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Arg928Ter", "hgvsWellDefined": "NP_003733.2:p.Arg928_Ser1321delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028963" }, { "coordinates": [ { "allele": "T", "end": 2959, "referenceAllele": "C", "start": 2958 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.2:c.2824C>T" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Arg942Ter", "hgvsWellDefined": "XP_006712880.1:p.Arg942_Ser1335delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069850" }, { "coordinates": [ { "allele": "T", "end": 3019, "referenceAllele": "C", "start": 3018 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.1:c.2884C>T" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Arg962Ter", "hgvsWellDefined": "XP_011510379.1:p.Arg962_Ser1355delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079335" }, { "coordinates": [ { "allele": "T", "end": 3019, "referenceAllele": "C", "start": 3018 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.1:c.2884C>T" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Arg962Ter", "hgvsWellDefined": "XP_011510380.1:p.Arg962_Ser1355delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079336" }, { "coordinates": [ { "allele": "T", "end": 2941, "referenceAllele": "C", "start": 2940 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512079.1:c.2884C>T" ], "proteinEffect": { "hgvs": "XP_011510381.1:p.Arg962Ter", "hgvsWellDefined": "XP_011510381.1:p.Arg962_Ser1355delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079337" }, { "coordinates": [ { "allele": "T", "end": 2943, "referenceAllele": "C", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.1:c.2804C>T" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Ser935Leu", "hgvsWellDefined": "XP_011510382.1:p.Ser935Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS079338" }, { "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.1:c.1108C>T" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Arg370Ter", "hgvsWellDefined": "XP_011510383.1:p.Arg370_Ser763delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079339" }, { "@id": "http://reg.genome.network/allele/PA658811457", "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "C", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "NM_003742.4:c.2782C>T" ], "proteinEffect": { "hgvs": "NP_003733.2:p.Arg928Ter", "hgvsWellDefined": "NP_003733.2:p.Arg928_Ser1321delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000650372.1:c.2782C>T" }, "RefSeq": { "hgvs": "NM_003742.4:c.2782C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497931.1:p.Arg928Ter" }, "RefSeq": { "hgvs": "NP_003733.2:p.Arg928Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3020, "referenceAllele": "C", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_006712817.3:c.2824C>T" ], "proteinEffect": { "hgvs": "XP_006712880.1:p.Arg942Ter", "hgvsWellDefined": "XP_006712880.1:p.Arg942_Ser1335delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538360" }, { "coordinates": [ { "allele": "T", "end": 3080, "referenceAllele": "C", "start": 3079 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512077.2:c.2884C>T" ], "proteinEffect": { "hgvs": "XP_011510379.1:p.Arg962Ter", "hgvsWellDefined": "XP_011510379.1:p.Arg962_Ser1355delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542409" }, { "coordinates": [ { "allele": "T", "end": 3080, "referenceAllele": "C", "start": 3079 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512078.2:c.2884C>T" ], "proteinEffect": { "hgvs": "XP_011510380.1:p.Arg962Ter", "hgvsWellDefined": "XP_011510380.1:p.Arg962_Ser1355delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542410" }, { "coordinates": [ { "allele": "T", "end": 3003, "referenceAllele": "C", "start": 3002 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512080.2:c.2804C>T" ], "proteinEffect": { "hgvs": "XP_011510382.1:p.Ser935Leu", "hgvsWellDefined": "XP_011510382.1:p.Ser935Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS542411" }, { "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "C", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_011512081.2:c.1108C>T" ], "proteinEffect": { "hgvs": "XP_011510383.1:p.Arg370Ter", "hgvsWellDefined": "XP_011510383.1:p.Arg370_Ser763delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542412" }, { "coordinates": [ { "allele": "T", "end": 3082, "referenceAllele": "C", "start": 3081 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005165.1:c.2884C>T" ], "proteinEffect": { "hgvs": "XP_016860654.1:p.Arg962Ter", "hgvsWellDefined": "XP_016860654.1:p.Arg962_Ser1314delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560508" }, { "coordinates": [ { "allele": "T", "end": 2206, "referenceAllele": "C", "start": 2205 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005166.1:c.2113C>T" ], "proteinEffect": { "hgvs": "XP_016860655.1:p.Arg705Ter", "hgvsWellDefined": "XP_016860655.1:p.Arg705_Ser1098delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560509" }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN000042", "geneNCBI_id": 8647, "geneSymbol": "ABCB11", "hgvs": [ "XM_017005167.1:c.1567C>T" ], "proteinEffect": { "hgvs": "XP_016860656.1:p.Arg523Ter", "hgvsWellDefined": "XP_016860656.1:p.Arg523_Ser916delinsAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560510" } ], "type": "nucleotide" }