{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368038050", "communityStandardTitle": [ "NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790755[alleleid]", "alleleId": 790755, "preferredName": "NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802328", "RCV": [ "RCV000987911", "RCV003485670", "RCV003769298" ], "variationId": 802328 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87069000G>A?assembly=hg19", "id": "chr7:g.87069000G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87439684G>A?assembly=hg38", "id": "chr7:g.87439684G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1458423947", "rs": 1458423947 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87069000-G-A?dataset=gnomad_r2_1", "id": "7-87069000-G-A", "variant": "7:87069000 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87439684-G-A?dataset=gnomad_r3", "id": "7-87439684-G-A", "variant": "7:87439684 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87439684-G-A?dataset=gnomad_r4", "id": "7-87439684-G-A", "variant": "7:87439684 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 87439684, "referenceAllele": "G", "start": 87439683 } ], "hgvs": [ "NC_000007.14:g.87439684G>A", "CM000669.2:g.87439684G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 87069000, "referenceAllele": "G", "start": 87068999 } ], "hgvs": [ "NC_000007.13:g.87069000G>A", "CM000669.1:g.87069000G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 86906936, "referenceAllele": "G", "start": 86906935 } ], "hgvs": [ "NC_000007.12:g.86906936G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 45749, "referenceAllele": "C", "start": 45748 } ], "hgvs": [ "NG_007118.1:g.45749C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000492" }, { "coordinates": [ { "allele": "T", "end": 45749, "referenceAllele": "C", "start": 45748 } ], "hgvs": [ "NG_007118.2:g.45749C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1798, "referenceAllele": "C", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.8:c.1714C>T" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Gln572Ter", "hgvsWellDefined": "ENSP00000352135.3:p.Gln572_Leu1279delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749162" }, { "coordinates": [ { "allele": "T", "end": 1730, "referenceAllele": "C", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000643670.1:c.1730C>T" ], "proteinEffect": { "hgvs": "ENSP00000496629.1:n.1730C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767402" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000644106.1:c.*1251C>T" ], "proteinEffect": { "hgvs": "ENSP00000493477.1:n.*1251C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767635" }, { "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "C", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000649586.2:c.1714C>T" ], "proteinEffect": { "hgvs": "ENSP00000496956.2:p.Gln572Ter", "hgvsWellDefined": "ENSP00000496956.2:p.Gln572_Leu1279delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1714C>T" }, "RefSeq": { "hgvs": "NM_000443.4:c.1714C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Gln572Ter" }, "RefSeq": { "hgvs": "NP_000434.1:p.Gln572Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000265723.8:c.1714C>T" ], "proteinEffect": { "hgvs": "ENSP00000265723.4:p.Gln572Ter", "hgvsWellDefined": "ENSP00000265723.4:p.Gln572_Leu1286delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251806" }, { "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000358400.7:c.1714C>T" ], "proteinEffect": { "hgvs": "ENSP00000351172.3:p.Gln572Ter", "hgvsWellDefined": "ENSP00000351172.3:p.Gln572_Leu1232delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264440" }, { "coordinates": [ { "allele": "T", "end": 1746, "referenceAllele": "C", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.7:c.1714C>T" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Gln572Ter", "hgvsWellDefined": "ENSP00000352135.3:p.Gln572_Leu1279delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264714" }, { "coordinates": [ { "allele": "T", "end": 1714, "referenceAllele": "C", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000453593.5:c.1714C>T" ], "proteinEffect": { "hgvs": "ENSP00000392983.1:p.Gln572Ter", "hgvsWellDefined": "ENSP00000392983.1:p.Gln572_Leu1232delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302181" }, { "@id": "http://reg.genome.network/allele/PA2825171683", "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.3:c.1714C>T" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Gln572Ter", "hgvsWellDefined": "NP_000434.1:p.Gln572_Leu1279delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006505" }, { "@id": "http://reg.genome.network/allele/PA2829919461", "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.2:c.1714C>T" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Gln572Ter", "hgvsWellDefined": "NP_061337.1:p.Gln572_Leu1286delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035904" }, { "@id": "http://reg.genome.network/allele/PA916068261", "coordinates": [ { "allele": "T", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.2:c.1714C>T" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Gln572Ter", "hgvsWellDefined": "NP_061338.1:p.Gln572_Leu1232delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035905" }, { "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011514610.1:p.Gln572Ter", "hgvsWellDefined": "XP_011514610.1:p.Gln572_Leu1286delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083511" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011514611.1:p.Gln572Ter", "hgvsWellDefined": "XP_011514611.1:p.Gln572_Leu1279delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083512" }, { "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011514612.1:p.Gln572Ter", "hgvsWellDefined": "XP_011514612.1:p.Gln572_Leu1251delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083513" }, { "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011514613.1:p.Gln572Ter", "hgvsWellDefined": "XP_011514613.1:p.Gln572_Leu1243delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083514" }, { "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011514614.1:p.Gln572Ter", "hgvsWellDefined": "XP_011514614.1:p.Gln572_Leu1239delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083515" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.1:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_011514615.1:p.Gln572Ter", "hgvsWellDefined": "XP_011514615.1:p.Gln572_Leu1232delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083516" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516314.1:c.1735C>T" ], "proteinEffect": { "hgvs": "XP_011514616.1:p.Gln579Ter", "hgvsWellDefined": "XP_011514616.1:p.Gln579_Leu1293delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083517" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.1:c.1054C>T" ], "proteinEffect": { "hgvs": "XP_011514617.1:p.Gln352Ter", "hgvsWellDefined": "XP_011514617.1:p.Gln352_Leu1066delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083518" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_927478.1:n.1810C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS123883" }, { "coordinates": [ { "allele": "T", "end": 2669, "referenceAllele": "C", "start": 2668 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.3:c.1984C>T" ], "proteinEffect": { "hgvs": "XP_011514610.3:p.Gln662Ter", "hgvsWellDefined": "XP_011514610.3:p.Gln662_Ser1384delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544111" }, { "coordinates": [ { "allele": "T", "end": 2665, "referenceAllele": "C", "start": 2664 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.3:c.1984C>T" ], "proteinEffect": { "hgvs": "XP_011514611.3:p.Gln662Ter", "hgvsWellDefined": "XP_011514611.3:p.Gln662_Ser1377delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544112" }, { "coordinates": [ { "allele": "T", "end": 2672, "referenceAllele": "C", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.3:c.1984C>T" ], "proteinEffect": { "hgvs": "XP_011514612.3:p.Gln662Ter", "hgvsWellDefined": "XP_011514612.3:p.Gln662_Ser1349delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544113" }, { "coordinates": [ { "allele": "T", "end": 2670, "referenceAllele": "C", "start": 2669 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.3:c.1984C>T" ], "proteinEffect": { "hgvs": "XP_011514613.3:p.Gln662Ter", "hgvsWellDefined": "XP_011514613.3:p.Gln662_Ser1341delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544114" }, { "coordinates": [ { "allele": "T", "end": 2668, "referenceAllele": "C", "start": 2667 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.3:c.1984C>T" ], "proteinEffect": { "hgvs": "XP_011514614.3:p.Gln662Ter", "hgvsWellDefined": "XP_011514614.3:p.Gln662_Ser1337delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544115" }, { "coordinates": [ { "allele": "T", "end": 2663, "referenceAllele": "C", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.3:c.1984C>T" ], "proteinEffect": { "hgvs": "XP_011514615.2:p.Gln662Ter", "hgvsWellDefined": "XP_011514615.2:p.Gln662_Leu1322delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544116" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.3:c.1054C>T" ], "proteinEffect": { "hgvs": "XP_011514617.2:p.Gln352Ter", "hgvsWellDefined": "XP_011514617.2:p.Gln352_Ser1074delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544117" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_017012323.2:c.1714C>T" ], "proteinEffect": { "hgvs": "XP_016867812.1:p.Gln572Ter", "hgvsWellDefined": "XP_016867812.1:p.Gln572_Ser1294delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565953" }, { "coordinates": [ { "allele": "T", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744809.2:n.2485C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593460" }, { "coordinates": [ { "allele": "T", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744810.2:n.2480C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS593461" }, { "@id": "http://reg.genome.network/allele/PA2825171683", "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "C", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.4:c.1714C>T" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Gln572Ter", "hgvsWellDefined": "NP_000434.1:p.Gln572_Leu1279delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1714C>T" }, "RefSeq": { "hgvs": "NM_000443.4:c.1714C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Gln572Ter" }, "RefSeq": { "hgvs": "NP_000434.1:p.Gln572Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829919461", "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "C", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.3:c.1714C>T" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Gln572Ter", "hgvsWellDefined": "NP_061337.1:p.Gln572_Leu1286delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698090" }, { "@id": "http://reg.genome.network/allele/PA916068261", "coordinates": [ { "allele": "T", "end": 1767, "referenceAllele": "C", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.3:c.1714C>T" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Gln572Ter", "hgvsWellDefined": "NP_061338.1:p.Gln572_Leu1232delinsAlaAlaLeuAspLysAlaArgGluGlyArgThrThrIleValIleAlaHisArgLeuSerThrValArgAsnAlaAspValIleAlaGlyPheGluAspGlyValIleValGluGlnGlySerHisSerGluLeuMetLysLysGluGlyValTyrPheLysLeuValAsnMetGlnThrSerGlySerGlnIleGlnSerGluGluPheGluLeuAsnAspGluLysAlaAlaThrArgMetAlaProAsnGlyTrpLysSerArgLeuPheArgHisSerThrGlnLysAsnLeuLysAsnSerGlnMetCysGlnLysSerLeuAspValGluThrAspGlyLeuGluAlaAsnValProProValSerPheLeuLysValLeuLysLeuAsnLysThrGluTrpProTyrPheValValGlyThrValCysAlaIleAlaAsnGlyGlyLeuGlnProAlaPheSerValIlePheSerGluIleIleAlaIlePheGlyProGlyAspAspAlaValLysGlnGlnLysCysAsnIlePheSerLeuIlePheLeuPheLeuGlyIleIleSerPhePheThrPhePheLeuGlnGlyPheThrPheGlyLysAlaGlyGluIleLeuThrArgArgLeuArgSerMetAlaPheLysAlaMetLeuArgGlnAspMetSerTrpPheAspAspHisLysAsnSerThrGlyAlaLeuSerThrArgLeuAlaThrAspAlaAlaGlnValGlnGlyAlaThrGlyThrArgLeuAlaLeuIleAlaGlnAsnIleAlaAsnLeuGlyThrGlyIleIleIleSerPheIleTyrGlyTrpGlnLeuThrLeuLeuLeuLeuAlaValValProIleIleAlaValSerGlyIleValGluMetLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728359" } ], "type": "nucleotide" }