{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10605878", "communityStandardTitle": [ "NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875IlefsTer2)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272036[alleleid]", "alleleId": 272036, "preferredName": "NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287799", "RCV": [ "RCV000394729" ], "variationId": 287799 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87046684_87046685delinsAT?assembly=hg19", "id": "chr7:g.87046684_87046685delinsAT" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87417368_87417369delinsAT?assembly=hg38", "id": "chr7:g.87417368_87417369delinsAT" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886043734", "rs": 886043734 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "AT", "end": 87417369, "referenceAllele": "TC", "start": 87417367 } ], "hgvs": [ "NC_000007.14:g.87417368_87417369delinsAT", "CM000669.2:g.87417368_87417369delinsAT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "AT", "end": 87046685, "referenceAllele": "TC", "start": 87046683 } ], "hgvs": [ "NC_000007.13:g.87046684_87046685delinsAT", "CM000669.1:g.87046684_87046685delinsAT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "AT", "end": 86884621, "referenceAllele": "TC", "start": 86884619 } ], "hgvs": [ "NC_000007.12:g.86884620_86884621delinsAT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "AT", "end": 68065, "referenceAllele": "GA", "start": 68063 } ], "hgvs": [ "NG_007118.1:g.68064_68065delinsAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS000492" }, { "coordinates": [ { "allele": "AT", "end": 68065, "referenceAllele": "GA", "start": 68063 } ], "hgvs": [ "NG_007118.2:g.68064_68065delinsAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS673479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AT", "end": 2710, "referenceAllele": "GA", "start": 2708 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.8:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Met875IlefsTer2", "hgvsWellDefined": "ENSP00000352135.3:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1279delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS749162" }, { "coordinates": [ { "allele": "AT", "end": 2679, "referenceAllele": "GA", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000649586.2:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "ENSP00000496956.2:p.Met875IlefsTer2", "hgvsWellDefined": "ENSP00000496956.2:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1279delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS770621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.2625_2626delinsAT" }, "RefSeq": { "hgvs": "NM_000443.4:c.2625_2626delinsAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Met875IlefsTer2" }, "RefSeq": { "hgvs": "NP_000434.1:p.Met875IlefsTer2" } } } }, { "coordinates": [ { "allele": "AT", "end": 2738, "referenceAllele": "GA", "start": 2736 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000265723.8:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "ENSP00000265723.4:p.Met875IlefsTer2", "hgvsWellDefined": "ENSP00000265723.4:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1286delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS251806" }, { "coordinates": [ { "allele": "AT", "end": 2702, "referenceAllele": "GA", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000358400.7:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "ENSP00000351172.3:p.Met875IlefsTer2", "hgvsWellDefined": "ENSP00000351172.3:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1232delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS264440" }, { "coordinates": [ { "allele": "AT", "end": 2658, "referenceAllele": "GA", "start": 2656 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.7:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Met875IlefsTer2", "hgvsWellDefined": "ENSP00000352135.3:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1279delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS264714" }, { "coordinates": [ { "allele": "AT", "end": 2626, "referenceAllele": "GA", "start": 2624 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000453593.5:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "ENSP00000392983.1:p.Met875IlefsTer2", "hgvsWellDefined": "ENSP00000392983.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1232delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS302181" }, { "coordinates": [ { "allele": "AT", "end": 2702, "referenceAllele": "GA", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.3:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Met875IlefsTer2", "hgvsWellDefined": "NP_000434.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1279delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS006505" }, { "coordinates": [ { "allele": "AT", "end": 2702, "referenceAllele": "GA", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.2:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Met875IlefsTer2", "hgvsWellDefined": "NP_061337.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1286delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS035904" }, { "coordinates": [ { "allele": "AT", "end": 2702, "referenceAllele": "GA", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.2:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Met875IlefsTer2", "hgvsWellDefined": "NP_061338.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1232delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS035905" }, { "coordinates": [ { "allele": "AT", "end": 2717, "referenceAllele": "GA", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.1:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "XP_011514610.1:p.Met875IlefsTer2", "hgvsWellDefined": "XP_011514610.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1286delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083511" }, { "coordinates": [ { "allele": "AT", "end": 2716, "referenceAllele": "GA", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.1:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "XP_011514611.1:p.Met875IlefsTer2", "hgvsWellDefined": "XP_011514611.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1279delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083512" }, { "coordinates": [ { "allele": "AT", "end": 2612, "referenceAllele": "GA", "start": 2610 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.1:c.2520_2521delinsAT" ], "proteinEffect": { "hgvs": "XP_011514612.1:p.Met840IlefsTer2", "hgvsWellDefined": "XP_011514612.1:p.[Met840_Lys859delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala861_Leu1251delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083513" }, { "coordinates": [ { "allele": "AT", "end": 2717, "referenceAllele": "GA", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.1:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "XP_011514613.1:p.Met875IlefsTer2", "hgvsWellDefined": "XP_011514613.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1243delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083514" }, { "coordinates": [ { "allele": "AT", "end": 2717, "referenceAllele": "GA", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.1:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "XP_011514614.1:p.Met875IlefsTer2", "hgvsWellDefined": "XP_011514614.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1239delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083515" }, { "coordinates": [ { "allele": "AT", "end": 2716, "referenceAllele": "GA", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.1:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "XP_011514615.1:p.Met875IlefsTer2", "hgvsWellDefined": "XP_011514615.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1232delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083516" }, { "coordinates": [ { "allele": "AT", "end": 4023, "referenceAllele": "GA", "start": 4021 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516314.1:c.2646_2647delinsAT" ], "proteinEffect": { "hgvs": "XP_011514616.1:p.Met882IlefsTer2", "hgvsWellDefined": "XP_011514616.1:p.[Met882_Lys901delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala903_Leu1293delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083517" }, { "coordinates": [ { "allele": "AT", "end": 2102, "referenceAllele": "GA", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.1:c.1965_1966delinsAT" ], "proteinEffect": { "hgvs": "XP_011514617.1:p.Met655IlefsTer2", "hgvsWellDefined": "XP_011514617.1:p.[Met655_Lys674delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala676_Leu1066delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS083518" }, { "coordinates": [ { "allele": "AT", "end": 2722, "referenceAllele": "GA", "start": 2720 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_927478.1:n.2721_2722delinsAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS123883" }, { "coordinates": [ { "allele": "AT", "end": 3581, "referenceAllele": "GA", "start": 3579 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.3:c.2895_2896delinsAT" ], "proteinEffect": { "hgvs": "XP_011514610.3:p.Met965IlefsTer2", "hgvsWellDefined": "XP_011514610.3:p.[Met965_Lys984delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer;Ala986_Ser1384delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS544111" }, { "coordinates": [ { "allele": "AT", "end": 3577, "referenceAllele": "GA", "start": 3575 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.3:c.2895_2896delinsAT" ], "proteinEffect": { "hgvs": "XP_011514611.3:p.Met965IlefsTer2", "hgvsWellDefined": "XP_011514611.3:p.[Met965_Lys984delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer;Ala986_Ser1377delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS544112" }, { "coordinates": [ { "allele": "AT", "end": 3479, "referenceAllele": "GA", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.3:c.2790_2791delinsAT" ], "proteinEffect": { "hgvs": "XP_011514612.3:p.Met930IlefsTer2", "hgvsWellDefined": "XP_011514612.3:p.[Met930_Lys949delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer;Ala951_Ser1349delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS544113" }, { "coordinates": [ { "allele": "AT", "end": 3582, "referenceAllele": "GA", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.3:c.2895_2896delinsAT" ], "proteinEffect": { "hgvs": "XP_011514613.3:p.Met965IlefsTer2", "hgvsWellDefined": "XP_011514613.3:p.[Met965_Lys984delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer;Ala986_Ser1341delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS544114" }, { "coordinates": [ { "allele": "AT", "end": 3580, "referenceAllele": "GA", "start": 3578 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.3:c.2895_2896delinsAT" ], "proteinEffect": { "hgvs": "XP_011514614.3:p.Met965IlefsTer2", "hgvsWellDefined": "XP_011514614.3:p.[Met965_Lys984delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer;Ala986_Ser1337delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS544115" }, { "coordinates": [ { "allele": "AT", "end": 3575, "referenceAllele": "GA", "start": 3573 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.3:c.2895_2896delinsAT" ], "proteinEffect": { "hgvs": "XP_011514615.2:p.Met965IlefsTer2", "hgvsWellDefined": "XP_011514615.2:p.[Met965_Lys984delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala986_Leu1322delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS544116" }, { "coordinates": [ { "allele": "AT", "end": 2102, "referenceAllele": "GA", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.3:c.1965_1966delinsAT" ], "proteinEffect": { "hgvs": "XP_011514617.2:p.Met655IlefsTer2", "hgvsWellDefined": "XP_011514617.2:p.[Met655_Lys674delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer;Ala676_Ser1074delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS544117" }, { "coordinates": [ { "allele": "AT", "end": 2713, "referenceAllele": "GA", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_017012323.2:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "XP_016867812.1:p.Met875IlefsTer2", "hgvsWellDefined": "XP_016867812.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer;Ala896_Ser1294delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetIleAsnLeuGluAspProIleTrpGlyLeuLeuArgHisLeuLysPheGluSerTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS565953" }, { "coordinates": [ { "allele": "AT", "end": 3397, "referenceAllele": "GA", "start": 3395 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744809.2:n.3396_3397delinsAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS593460" }, { "coordinates": [ { "allele": "AT", "end": 2679, "referenceAllele": "GA", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.4:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Met875IlefsTer2", "hgvsWellDefined": "NP_000434.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1279delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS674848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.2625_2626delinsAT" }, "RefSeq": { "hgvs": "NM_000443.4:c.2625_2626delinsAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Met875IlefsTer2" }, "RefSeq": { "hgvs": "NP_000434.1:p.Met875IlefsTer2" } } } }, { "coordinates": [ { "allele": "AT", "end": 2679, "referenceAllele": "GA", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.3:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Met875IlefsTer2", "hgvsWellDefined": "NP_061337.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1286delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgAsnSerValGlnLysAlaHisIleTyrGlyIleThrPheSerIleSerGlnAlaPheMetTyrPheSerTyrAlaGlyCysPheArgPheGlyAlaTyrLeuIleValAsnGlyHisMetArgPheArgAspValIleLeuValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValPheValAspPheGlyPheGlnLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS698090" }, { "coordinates": [ { "allele": "AT", "end": 2679, "referenceAllele": "GA", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.3:c.2625_2626delinsAT" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Met875IlefsTer2", "hgvsWellDefined": "NP_061338.1:p.[Met875_Lys894delinsLysLeuLeuAlaGlyAsnAlaLysArgAspLysLysGluLeuGluAlaAlaGlyLysIleAlaThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer;Ala896_Leu1232delinsThrGluAlaIleGluAsnIleArgThrValValSerLeuThrGlnGluArgLysPheGluSerMetTyrValGluLysLeuTyrGlyProTyrArgValPheSerAlaIleValPheGlyAlaValAlaLeuGlyHisAlaSerSerPheAlaProAspTyrAlaLysAlaLysLeuSerAlaAlaHisLeuPheMetLeuPheGluArgGlnProLeuIleAspSerTyrSerGluGluGlyLeuLysProAspLysPheGluGlyAsnIleThrPheAsnGluValValPheAsnTyrProThrArgAlaAsnValProValLeuGlnGlyLeuSerLeuGluValLysLysGlyGlnThrLeuAlaLeuValGlySerSerGlyCysGlyLysSerThrValValGlnLeuLeuGluArgPheTyrAspProLeuAlaGlyThrValLeuLeuAspGlyGlnGluAlaLysLysLeuAsnValGlnTrpLeuArgAlaGlnLeuGlyIleValSerGlnGluProIleLeuPheAspCysSerIleAlaGluAsnIleAlaTyrGlyAspAsnSerArgValValSerGlnAspGluIleValSerAlaAlaLysAlaAlaAsnIleHisProPheIleGluThrLeuProHisLysTyrGluThrArgValGlyAspLysGlyThrGlnLeuSerGlyGlyGlnLysGlnArgIleAlaIleAlaArgAlaLeuIleArgGlnProGlnIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysValValGlnGluAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspLeuIleValValPheGlnAsnGlyArgValLysGluHisGlyThrHisGlnGlnLeuLeuAlaGlnLysGlyIleTyrPheSerMetValSerValGlnAlaGlyThrGlnAsnLeuTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728359" } ], "type": "nucleotide" }