{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368035336", "communityStandardTitle": [ "NM_000443.4(ABCB4):c.1768C>T (p.Arg590Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5873285", "active": true, "id": "COSM5873285" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5873286", "active": true, "id": "COSM5873286" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2904952[alleleid]", "alleleId": 2904952, "preferredName": "NM_000443.4(ABCB4):c.1768C>T (p.Arg590Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2735041", "RCV": [ "RCV003555349" ], "variationId": 2735041 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87060845G>A?assembly=hg19", "id": "chr7:g.87060845G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87431529G>A?assembly=hg38", "id": "chr7:g.87431529G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1293893301", "rs": 1293893301 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87060845-G-A?dataset=gnomad_r2_1", "id": "7-87060845-G-A", "variant": "7:87060845 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87431529-G-A?dataset=gnomad_r3", "id": "7-87431529-G-A", "variant": "7:87431529 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87431529-G-A?dataset=gnomad_r4", "id": "7-87431529-G-A", "variant": "7:87431529 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 87431529, "referenceAllele": "G", "start": 87431528 } ], "hgvs": [ "NC_000007.14:g.87431529G>A", "CM000669.2:g.87431529G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 87060845, "referenceAllele": "G", "start": 87060844 } ], "hgvs": [ "NC_000007.13:g.87060845G>A", "CM000669.1:g.87060845G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 86898781, "referenceAllele": "G", "start": 86898780 } ], "hgvs": [ "NC_000007.12:g.86898781G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 53904, "referenceAllele": "C", "start": 53903 } ], "hgvs": [ "NG_007118.1:g.53904C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000492" }, { "coordinates": [ { "allele": "T", "end": 53904, "referenceAllele": "C", "start": 53903 } ], "hgvs": [ "NG_007118.2:g.53904C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.8:c.1768C>T" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Arg590Ter", "hgvsWellDefined": "ENSP00000352135.3:p.Arg590_Leu1279delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749162" }, { "coordinates": [ { "allele": "T", "end": 1784, "referenceAllele": "C", "start": 1783 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000643670.1:c.1784C>T" ], "proteinEffect": { "hgvs": "ENSP00000496629.1:n.1784C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767402" }, { "coordinates": [ { "allele": "T", "end": 1888, "referenceAllele": "C", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000644106.1:c.*1305C>T" ], "proteinEffect": { "hgvs": "ENSP00000493477.1:n.*1305C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767635" }, { "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000649586.2:c.1768C>T" ], "proteinEffect": { "hgvs": "ENSP00000496956.2:p.Arg590Ter", "hgvsWellDefined": "ENSP00000496956.2:p.Arg590_Leu1279delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1768C>T" }, "RefSeq": { "hgvs": "NM_000443.4:c.1768C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Arg590Ter" }, "RefSeq": { "hgvs": "NP_000434.1:p.Arg590Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1880, "referenceAllele": "C", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000265723.8:c.1768C>T" ], "proteinEffect": { "hgvs": "ENSP00000265723.4:p.Arg590Ter", "hgvsWellDefined": "ENSP00000265723.4:p.Arg590_Leu1286delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251806" }, { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000358400.7:c.1768C>T" ], "proteinEffect": { "hgvs": "ENSP00000351172.3:p.Arg590Ter", "hgvsWellDefined": "ENSP00000351172.3:p.Arg590_Leu1232delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264440" }, { "coordinates": [ { "allele": "T", "end": 1800, "referenceAllele": "C", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.7:c.1768C>T" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Arg590Ter", "hgvsWellDefined": "ENSP00000352135.3:p.Arg590_Leu1279delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264714" }, { "coordinates": [ { "allele": "T", "end": 1768, "referenceAllele": "C", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000453593.5:c.1768C>T" ], "proteinEffect": { "hgvs": "ENSP00000392983.1:p.Arg590Ter", "hgvsWellDefined": "ENSP00000392983.1:p.Arg590_Leu1232delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302181" }, { "@id": "http://reg.genome.network/allele/PA2825171691", "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.3:c.1768C>T" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Arg590Ter", "hgvsWellDefined": "NP_000434.1:p.Arg590_Leu1279delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006505" }, { "@id": "http://reg.genome.network/allele/PA2829919469", "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.2:c.1768C>T" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Arg590Ter", "hgvsWellDefined": "NP_061337.1:p.Arg590_Leu1286delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035904" }, { "@id": "http://reg.genome.network/allele/PA2741970674", "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "C", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.2:c.1768C>T" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Arg590Ter", "hgvsWellDefined": "NP_061338.1:p.Arg590_Leu1232delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035905" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.1:c.1768C>T" ], "proteinEffect": { "hgvs": "XP_011514610.1:p.Arg590Ter", "hgvsWellDefined": "XP_011514610.1:p.Arg590_Leu1286delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083511" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.1:c.1768C>T" ], "proteinEffect": { "hgvs": "XP_011514611.1:p.Arg590Ter", "hgvsWellDefined": "XP_011514611.1:p.Arg590_Leu1279delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083512" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.1:c.1768C>T" ], "proteinEffect": { "hgvs": "XP_011514612.1:p.Arg590Ter", "hgvsWellDefined": "XP_011514612.1:p.Arg590_Leu1251delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083513" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.1:c.1768C>T" ], "proteinEffect": { "hgvs": "XP_011514613.1:p.Arg590Ter", "hgvsWellDefined": "XP_011514613.1:p.Arg590_Leu1243delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083514" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.1:c.1768C>T" ], "proteinEffect": { "hgvs": "XP_011514614.1:p.Arg590Ter", "hgvsWellDefined": "XP_011514614.1:p.Arg590_Leu1239delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083515" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.1:c.1768C>T" ], "proteinEffect": { "hgvs": "XP_011514615.1:p.Arg590Ter", "hgvsWellDefined": "XP_011514615.1:p.Arg590_Leu1232delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083516" }, { "coordinates": [ { "allele": "T", "end": 3165, "referenceAllele": "C", "start": 3164 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516314.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011514616.1:p.Arg597Ter", "hgvsWellDefined": "XP_011514616.1:p.Arg597_Leu1293delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083517" }, { "coordinates": [ { "allele": "T", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.1:c.1108C>T" ], "proteinEffect": { "hgvs": "XP_011514617.1:p.Arg370Ter", "hgvsWellDefined": "XP_011514617.1:p.Arg370_Leu1066delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083518" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_927478.1:n.1864C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS123883" }, { "coordinates": [ { "allele": "T", "end": 2723, "referenceAllele": "C", "start": 2722 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.3:c.2038C>T" ], "proteinEffect": { "hgvs": "XP_011514610.3:p.Arg680Ter", "hgvsWellDefined": "XP_011514610.3:p.Arg680_Ser1384delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544111" }, { "coordinates": [ { "allele": "T", "end": 2719, "referenceAllele": "C", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.3:c.2038C>T" ], "proteinEffect": { "hgvs": "XP_011514611.3:p.Arg680Ter", "hgvsWellDefined": "XP_011514611.3:p.Arg680_Ser1377delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544112" }, { "coordinates": [ { "allele": "T", "end": 2726, "referenceAllele": "C", "start": 2725 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.3:c.2038C>T" ], "proteinEffect": { "hgvs": "XP_011514612.3:p.Arg680Ter", "hgvsWellDefined": "XP_011514612.3:p.Arg680_Ser1349delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544113" }, { "coordinates": [ { "allele": "T", "end": 2724, "referenceAllele": "C", "start": 2723 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.3:c.2038C>T" ], "proteinEffect": { "hgvs": "XP_011514613.3:p.Arg680Ter", "hgvsWellDefined": "XP_011514613.3:p.Arg680_Ser1341delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544114" }, { "coordinates": [ { "allele": "T", "end": 2722, "referenceAllele": "C", "start": 2721 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.3:c.2038C>T" ], "proteinEffect": { "hgvs": "XP_011514614.3:p.Arg680Ter", "hgvsWellDefined": "XP_011514614.3:p.Arg680_Ser1337delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544115" }, { "coordinates": [ { "allele": "T", "end": 2717, "referenceAllele": "C", "start": 2716 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.3:c.2038C>T" ], "proteinEffect": { "hgvs": "XP_011514615.2:p.Arg680Ter", "hgvsWellDefined": "XP_011514615.2:p.Arg680_Leu1322delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544116" }, { "coordinates": [ { "allele": "T", "end": 1244, "referenceAllele": "C", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.3:c.1108C>T" ], "proteinEffect": { "hgvs": "XP_011514617.2:p.Arg370Ter", "hgvsWellDefined": "XP_011514617.2:p.Arg370_Ser1074delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544117" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_017012323.2:c.1768C>T" ], "proteinEffect": { "hgvs": "XP_016867812.1:p.Arg590Ter", "hgvsWellDefined": "XP_016867812.1:p.Arg590_Ser1294delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565953" }, { "coordinates": [ { "allele": "T", "end": 2539, "referenceAllele": "C", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744809.2:n.2539C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593460" }, { "coordinates": [ { "allele": "T", "end": 2534, "referenceAllele": "C", "start": 2533 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744810.2:n.2534C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593461" }, { "@id": "http://reg.genome.network/allele/PA2825171691", "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.4:c.1768C>T" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Arg590Ter", "hgvsWellDefined": "NP_000434.1:p.Arg590_Leu1279delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1768C>T" }, "RefSeq": { "hgvs": "NM_000443.4:c.1768C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Arg590Ter" }, "RefSeq": { "hgvs": "NP_000434.1:p.Arg590Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829919469", "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.3:c.1768C>T" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Arg590Ter", "hgvsWellDefined": "NP_061337.1:p.Arg590_Leu1286delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698090" }, { "@id": "http://reg.genome.network/allele/PA2741970674", "coordinates": [ { "allele": "T", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.3:c.1768C>T" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Arg590Ter", "hgvsWellDefined": "NP_061338.1:p.Arg590_Leu1232delinsLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728359" } ], "type": "nucleotide" }