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"NP_000039.2:p.Gln165_Ala464delinsProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006113" }, { "@id": "http://reg.genome.network/allele/PA2825338119", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.1:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Gln165Ter", "hgvsWellDefined": "NP_001020114.1:p.Gln165_Ala464delinsProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008813" }, { "@id": "http://reg.genome.network/allele/PA2825338476", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Gln165Ter", "hgvsWellDefined": "NP_001020115.1:p.Gln165_Ala444delinsProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008814" }, { "@id": "http://reg.genome.network/allele/PA2580132949", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Gln165Ter", "hgvsWellDefined": "NP_001020117.1:p.Gln165_Ala438delinsProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008815" }, { "@id": "http://reg.genome.network/allele/PA2825028346", "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "C", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.493C>T" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Gln165Ter", "hgvsWellDefined": "NP_000039.2:p.Gln165_Ala464delinsProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.493C>T" }, "RefSeq": { "hgvs": "NM_000048.4:c.493C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Gln165Ter" }, "RefSeq": { "hgvs": "NP_000039.2:p.Gln165Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825338119", "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Gln165Ter", "hgvsWellDefined": "NP_001020114.1:p.Gln165_Ala464delinsProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675647" }, { "@id": "http://reg.genome.network/allele/PA2825338476", "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Gln165Ter", "hgvsWellDefined": "NP_001020115.1:p.Gln165_Ala444delinsProIleArgTrpSerHisTrpIleLeuSerHisAlaValAlaLeuThrArgAspSerGluArgLeuLeuGluValArgLysArgIleAsnValLeuProLeuGlySerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675648" }, { "@id": "http://reg.genome.network/allele/PA2580132949", "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.493C>T" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Gln165Ter", "hgvsWellDefined": "NP_001020117.1:p.Gln165_Ala438delinsProIleArgTrpSerHisTrpIleLeuSerGlyAlaIleAlaGlyAsnProLeuGlyValAspArgGluLeuLeuArgAlaGluLeuAsnPheGlyAlaIleThrLeuAsnSerMetAspAlaThrSerGluArgAspPheValAlaGluPheLeuPheTrpAlaSerLeuCysMetThrHisLeuSerArgMetAlaGluAspLeuIleLeuTyrCysThrLysGluPheSerPheValGlnLeuSerAspAlaTyrSerThrGlySerSerLeuMetProGlnLysLysAsnProAspSerLeuGluLeuIleArgSerLysAlaGlyArgValPheGlyArgCysAlaGlyLeuLeuMetThrLeuLysGlyLeuProSerThrTyrAsnLysAspLeuGlnGluAspLysGluAlaValPheGluValSerAspThrMetSerAlaValLeuGlnValAlaThrGlyValIleSerThrLeuGlnIleHisGlnGluAsnMetGlyGlnAlaLeuSerProAspMetLeuAlaThrAspLeuAlaTyrTyrLeuValArgLysGlyMetProPheArgGlnAlaHisGluAlaSerGlyLysAlaValPheMetAlaGluThrLysGlyValAlaLeuAsnGlnLeuSerLeuGlnGluLeuGlnThrIleSerProLeuPheSerGlyAspValIleCysValTrpAspTyrGlyHisSerValGluGlnTyrGlyAlaLeuGlyGlyThrAlaArgSerSerValAspTrpGlnIleArgGlnValArgAlaLeuLeuGlnAlaGlnGlnAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }