{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390850942", "communityStandardTitle": [ "NM_000295.5(SERPINA1):c.20G>A (p.Trp7Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94849555C>T?assembly=hg19", "id": "chr14:g.94849555C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94383218C>T?assembly=hg38", "id": "chr14:g.94383218C>T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94383218, "referenceAllele": "C", "start": 94383217 } ], "hgvs": [ "NC_000014.9:g.94383218C>T", "CM000676.2:g.94383218C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94849555, "referenceAllele": "C", "start": 94849554 } ], "hgvs": [ "NC_000014.8:g.94849555C>T", "CM000676.1:g.94849555C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 93919308, "referenceAllele": "C", "start": 93919307 } ], "hgvs": [ "NC_000014.7:g.93919308C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 12475, "referenceAllele": "G", "start": 12474 } ], "hgvs": [ "NG_008290.1:g.12475G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001004" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "G", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.9:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Trp7Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.20G>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.20G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Trp7Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Trp7Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "G", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000636712.1:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000490054.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000490054.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763327" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000355814.8:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000348068.4:p.Trp7Ter", "hgvsWellDefined": "ENSP00000348068.4:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263559" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.8:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Trp7Ter", "hgvsWellDefined": "ENSP00000376802.4:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275446" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393088.8:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000376803.4:p.Trp7Ter", "hgvsWellDefined": "ENSP00000376803.4:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275447" }, { "coordinates": [ { "allele": "A", "end": 54, "referenceAllele": "G", "start": 53 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000402629.1:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000386094.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000386094.1:p.Trp7_Pro359delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysValArgSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279575" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000404814.8:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000385960.4:p.Trp7Ter", "hgvsWellDefined": "ENSP00000385960.4:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280169" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000437397.5:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000408474.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000408474.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294442" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "G", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000440909.5:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000390299.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000390299.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296122" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000448921.5:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000416066.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000416066.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299955" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000449399.7:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000416354.3:p.Trp7Ter", "hgvsWellDefined": "ENSP00000416354.3:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300207" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "G", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000489769.1:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000451525.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000451525.1:p.Trp7_Arg306delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS327757" }, { "coordinates": [ { "allele": "A", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000553327.5:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000452480.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000452480.1:p.Trp7Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS369772" }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "-", "endIntronOffset": 215, "referenceAllele": "G", "start": 106, "startIntronDirection": "-", "startIntronOffset": 216 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000554720.1:c.-23-216G>A" ], "proteinEffect": { "hgvs": "ENSP00000450561.1:n.-23-216G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS370859" }, { "coordinates": [ { "allele": "A", "end": 194, "referenceAllele": "G", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000556091.1:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000452169.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000452169.1:p.Trp7Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS371949" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000556955.5:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000451098.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000451098.1:p.Trp7_His117del" }, "referenceSequence": "http://reg.genome.network/refseq/RS372627" }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000557118.5:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000451826.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000451826.1:p.Trp7Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS372761" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000557492.5:c.20G>A" ], "proteinEffect": { "hgvs": "ENSP00000452452.1:p.Trp7Ter", "hgvsWellDefined": "ENSP00000452452.1:p.Trp7Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS373075" }, { "@id": "http://reg.genome.network/allele/PA2825108404", "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.4:c.20G>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Trp7Ter", "hgvsWellDefined": "NP_000286.3:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006356" }, { "@id": "http://reg.genome.network/allele/PA2825244692", "coordinates": [ { "allele": "A", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Trp7Ter", "hgvsWellDefined": "NP_001002235.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007233" }, { "@id": "http://reg.genome.network/allele/PA2825245302", "coordinates": [ { "allele": "A", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Trp7Ter", "hgvsWellDefined": "NP_001002236.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS007234" }, { "@id": "http://reg.genome.network/allele/PA2825655504", "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "G", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121172.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011682" }, { "@id": "http://reg.genome.network/allele/PA645467118", "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "G", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121173.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011683" }, { "@id": "http://reg.genome.network/allele/PA2825656003", "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121174.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011684" }, { "@id": "http://reg.genome.network/allele/PA2825656304", "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121175.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011685" }, { "@id": "http://reg.genome.network/allele/PA2825656605", "coordinates": [ { "allele": "A", "end": 553, "referenceAllele": "G", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121176.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011686" }, { "@id": "http://reg.genome.network/allele/PA2825656906", "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "G", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121177.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011687" }, { "@id": "http://reg.genome.network/allele/PA2825657207", "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121178.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011688" }, { "@id": "http://reg.genome.network/allele/PA915968189", "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "G", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.1:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121179.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011689" }, { "coordinates": [ { "allele": "A", "end": 461, "referenceAllele": "G", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "XM_017021370.1:c.20G>A" ], "proteinEffect": { "hgvs": "XP_016876859.1:p.Trp7Ter", "hgvsWellDefined": "XP_016876859.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572590" }, { "@id": "http://reg.genome.network/allele/PA2825108404", "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "G", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.5:c.20G>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Trp7Ter", "hgvsWellDefined": "NP_000286.3:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.20G>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.20G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Trp7Ter" }, "RefSeq": { "hgvs": "NP_000286.3:p.Trp7Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825244692", "coordinates": [ { "allele": "A", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.3:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Trp7Ter", "hgvsWellDefined": "NP_001002235.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675068" }, { "@id": "http://reg.genome.network/allele/PA2825245302", "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "G", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.3:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Trp7Ter", "hgvsWellDefined": "NP_001002236.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675069" }, { "@id": "http://reg.genome.network/allele/PA2825655504", "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "G", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121172.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676934" }, { "@id": "http://reg.genome.network/allele/PA645467118", "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121173.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676935" }, { "@id": "http://reg.genome.network/allele/PA2825656003", "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "G", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121174.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676936" }, { "@id": "http://reg.genome.network/allele/PA2825656304", "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "G", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121175.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676937" }, { "@id": "http://reg.genome.network/allele/PA2825656605", "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121176.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676938" }, { "@id": "http://reg.genome.network/allele/PA2825656906", "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121177.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676939" }, { "@id": "http://reg.genome.network/allele/PA2825657207", "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121178.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676940" }, { "@id": "http://reg.genome.network/allele/PA915968189", "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.2:c.20G>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Trp7Ter", "hgvsWellDefined": "NP_001121179.1:p.Trp7_Lys418delinsGlyIleLeuLeuLeuAlaGlyLeuCysCysLeuValProValSerLeuAlaGluAspProGlnGlyAspAlaAlaGlnLysThrAspThrSerHisHisAspGlnAspHisProThrPheAsnLysIleThrProAsnLeuAlaGluPheAlaPheSerLeuTyrArgGlnLeuAlaHisGlnSerAsnSerThrAsnIlePhePheSerProValSerIleAlaThrAlaPheAlaMetLeuSerLeuGlyThrLysAlaAspThrHisAspGluIleLeuGluGlyLeuAsnPheAsnLeuThrGluIleProGluAlaGlnIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676941" } ], "type": "nucleotide" }