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"NP_000286.3:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.475A>T" }, "RefSeq": { "hgvs": "NM_000295.5:c.475A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Lys159Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Lys159Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825244878", "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "A", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.3:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Lys159Ter", "hgvsWellDefined": "NP_001002235.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675068" }, { "@id": "http://reg.genome.network/allele/PA2825245549", "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "A", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.3:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Lys159Ter", "hgvsWellDefined": "NP_001002236.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675069" }, { "@id": "http://reg.genome.network/allele/PA2825655611", "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "A", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121172.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676934" }, { "@id": "http://reg.genome.network/allele/PA2825655871", "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "A", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121173.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676935" }, { "@id": "http://reg.genome.network/allele/PA2825656110", "coordinates": [ { "allele": "T", "end": 799, "referenceAllele": "A", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121174.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676936" }, { "@id": "http://reg.genome.network/allele/PA2825656410", "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "A", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121175.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676937" }, { "@id": "http://reg.genome.network/allele/PA2825656712", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "A", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121176.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676938" }, { "@id": "http://reg.genome.network/allele/PA2825657013", "coordinates": [ { "allele": "T", "end": 969, "referenceAllele": "A", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121177.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676939" }, { "@id": "http://reg.genome.network/allele/PA2825657313", "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "A", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121178.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676940" }, { "@id": "http://reg.genome.network/allele/PA2741834524", "coordinates": [ { "allele": "T", "end": 759, "referenceAllele": "A", "start": 758 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.2:c.475A>T" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Lys159Ter", "hgvsWellDefined": "NP_001121179.1:p.Lys160_Lys418delinsLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676941" } ], "type": "nucleotide" }