{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16042597", "communityStandardTitle": [ "NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359671[alleleid]", "alleleId": 359671, "preferredName": "NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372310", "RCV": [ "RCV000413202", "RCV001260885", "RCV001841277" ], "variationId": 372310 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.70231114C>T?assembly=hg19", "id": "chr7:g.70231114C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.70766128C>T?assembly=hg38", "id": "chr7:g.70766128C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517708", "rs": 1057517708 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 70766128, "referenceAllele": "C", "start": 70766127 } ], "hgvs": [ "NC_000007.14:g.70766128C>T", "CM000669.2:g.70766128C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 70231114, "referenceAllele": "C", "start": 70231113 } ], "hgvs": [ "NC_000007.13:g.70231114C>T", "CM000669.1:g.70231114C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 69869050, "referenceAllele": "C", "start": 69869049 } ], "hgvs": [ "NC_000007.12:g.69869050C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 1172210, "referenceAllele": "C", "start": 1172209 } ], "hgvs": [ "NG_034133.1:g.1172210C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005765" } ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS261629" }, { "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "ENST00000406775.6:c.1483C>T" ], "proteinEffect": { "hgvs": "ENSP00000385263.2:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS280733" }, { "coordinates": [ { "allele": "T", "end": 108, "referenceAllele": "C", "start": 107 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "ENST00000443672.1:c.108C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS297454" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "C", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "ENST00000481994.1:n.90C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321796" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "ENST00000611706.4:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000478134.1:p.Arg247Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS400975" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "C", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "ENST00000615871.4:c.739C>T" ], "proteinEffect": { "hgvs": "ENSP00000479325.1:p.Arg247Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS402798" }, { "@id": "http://reg.genome.network/allele/PA2825600109", "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "NM_001127231.2:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_001120703.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS011563" }, { "@id": "http://reg.genome.network/allele/PA645408057", "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "NM_015570.3:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_056385.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034119" }, { "coordinates": [ { "allele": "T", "end": 271, "referenceAllele": "C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_005250257.1:c.109C>T" ], "proteinEffect": { "hgvs": "XP_005250314.1:p.Arg37Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS059129" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516010.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514312.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083217" }, { "coordinates": [ { "allele": "T", "end": 2659, "referenceAllele": "C", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516011.1:c.1480C>T" ], "proteinEffect": { "hgvs": "XP_011514313.1:p.Arg494Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083218" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516012.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514314.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083219" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516013.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514315.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083220" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516014.1:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514316.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083222" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516016.1:c.1192C>T" ], "proteinEffect": { "hgvs": "XP_011514318.1:p.Arg398Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083223" }, { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516017.1:c.1009C>T" ], "proteinEffect": { "hgvs": "XP_011514319.1:p.Arg337Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083224" }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516018.1:c.982C>T" ], "proteinEffect": { "hgvs": "XP_011514320.1:p.Arg328Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS533413" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516010.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514312.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543982" }, { "coordinates": [ { "allele": "T", "end": 2659, "referenceAllele": "C", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516011.2:c.1480C>T" ], "proteinEffect": { "hgvs": "XP_011514313.1:p.Arg494Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543983" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516012.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514314.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543984" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516013.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514315.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543985" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516014.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_011514316.1:p.Arg495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543986" }, { "coordinates": [ { "allele": "T", "end": 11216, "referenceAllele": "C", "start": 11215 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516017.2:c.1009C>T" ], "proteinEffect": { "hgvs": "XP_011514319.1:p.Arg337Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543987" }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516018.2:c.982C>T" ], "proteinEffect": { "hgvs": "XP_011514320.1:p.Arg328Ter", "hgvsWellDefined": "XP_011514320.1:p.Arg328_Arg1099delinsGlnGluLeuAsnThrArgPheLeuAlaSerGlnSerAlaAspArgGlyAlaSerLeuGlyProProProTyrLeuArgThrGluPheHisGlnHisGlnHisGlnHisGlnHisThrHisGlnHisThrHisGlnHisThrPheThrProPheProHisAlaIleProProThrAlaIleMetProThrProAlaProProMetValArgThrProGlyArgAsnPheAspLysTyrProThrLysValAspProPheTyrArgHisSerLeuPheHisSerTyrProProAlaValSerGlyIleProProMetIleProProThrGlyProPheGlySerLeuGlnGlyAlaPheGlnProLysThrSerAsnProIleAspValAlaAlaArgProGlyThrValProHisThrLeuLeuGlnLysAspProArgLeuThrAspProPheArgProMetLeuArgLysProGlyLysTrpCysAlaMetHisValHisIleAlaTrpGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnSerMetPheGlyHisLysAspGlyProSerValGlnAsnPheSerAsnProHisGluProTrpAsnArgLeuHisArgThrProProSerPheProThrProProProTrpLeuLysProGlyGluLeuGluArgSerAlaSerAlaAlaAlaHisAspArgAspArgAspValAspLysArgAspSerSerValSerLysAspAspLysGluArgGluSerValGluLysArgHisSerSerHisProSerProAlaProValLeuProValAsnAlaLeuGlyHisThrArgSerSerThrGluGlnIleArgAlaHisLeuAsnThrGluAlaArgGluLysAspLysProLysGluArgGluArgAspHisSerGluSerArgLysAspLeuAlaAlaAspGluHisLysAlaLysGluGlyHisLeuProGluLysAspGlyHisGlyHisGluGlyArgAlaAlaGlyGluGluAlaLysGlnLeuAlaArgValProSerProTyrValArgThrProValValGluSerAlaArgProAsnSerThrSerSerArgGluAlaGluProArgLysGlyGluProAlaTyrGluAsnProLysLysSerSerGluValLysValLysGluGluArgLysGluAspHisAspLeuProProGluAlaProGlnThrHisArgAlaSerGluProProProProAsnSerSerSerSerValHisProGlyProLeuAlaSerMetProMetThrValGlyValThrGlyIleHisProMetAsnSerIleSerSerLeuAspArgThrArgMetMetThrProPheMetGlyIleSerProLeuProGlyGlyGluArgPheProTyrProSerPheHisTrpAspProIleArgAspProLeuArgAspProTyrArgGluLeuAspIleHisArgArgAspProLeuGlyArgAspPheLeuLeuArgAsnAspProLeuHisArgLeuSerThrProArgLeuTyrGluAlaAspArgSerPheArgAspArgGluProHisAspTyrSerHisHisHisHisHisHisHisHisProLeuSerValAspProArgArgGluHisGluArgGlyGlyHisLeuAspGluArgGluArgLeuHisMetLeuArgGluAspTyrGluHisThrArgLeuHisSerValHisProAlaSerLeuAspGlyHisLeuProHisProSerLeuIleThrProGlyLeuProSerMetHisTyrProArgIleSerProThrAlaGlyAsnGlnAsnGlyLeuLeuAsnLysThrProProThrAlaAlaLeuSerAlaProProProLeuIleSerThrLeuGlyGlyArgProValSerProArgArgThrThrProLeuSerAlaGluIleArgGluArgProProSerHisThrLeuLysAspIleGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543988" }, { "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_017011951.2:c.1483C>T" ], "proteinEffect": { "hgvs": "XP_016867440.1:p.Arg495Ter", "hgvsWellDefined": "XP_016867440.1:p.Arg495_Phe784delinsGlnGluLeuAsnThrArgPheLeuAlaSerGlnSerAlaAspArgGlyAlaSerLeuGlyProProProTyrLeuArgThrGluPheHisGlnHisGlnHisGlnHisGlnHisThrHisGlnHisThrHisGlnHisThrPheThrProPheProHisAlaIleProProThrAlaIleMetProThrProAlaProProMetValArgThrProGlyArgAsnPheAspLysTyrProThrLysValAspProPheTyrArgHisSerLeuPheHisSerTyrProProAlaValSerGlyIleProProMetIleProProThrGlyProPheGlySerLeuGlnGlyAlaPheGlnProLysThrSerAsnProIleAspValAlaAlaArgProGlyThrValProHisThrLeuLeuGlnLysAspProArgLeuThrAspProPheArgProMetLeuArgLysProGlyLysTrpCysAlaMetHisValHisIleAlaTrpGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnAsnMetTyrSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565677" }, { "@id": "http://reg.genome.network/allele/PA2825600109", "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "NM_001127231.3:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_001120703.1:p.Arg495Ter", "hgvsWellDefined": "NP_001120703.1:p.Arg495_Arg1235delinsGlnGluLeuAsnThrArgPheLeuAlaSerGlnSerAlaAspArgGlyAlaSerLeuGlyProProProTyrLeuArgThrGluPheHisGlnHisGlnHisGlnHisGlnHisThrHisGlnHisThrHisGlnHisThrPheThrProPheProHisAlaIleProProThrAlaIleMetProThrProAlaProProMetPheAspLysTyrProThrLysValAspProPheTyrArgHisSerLeuPheHisSerTyrProProAlaValSerGlyIleProProMetIleProProThrGlyProPheGlySerLeuGlnGlyAlaPheGlnProLysLeuThrAspProPheArgProMetLeuArgLysProGlyLysTrpCysAlaMetHisValHisIleAlaTrpGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnSerMetPheGlyHisLysAspGlyProSerValGlnAsnPheSerAsnProHisGluProTrpAsnArgLeuHisArgThrProProSerPheProThrProProProTrpLeuLysProGlyGluLeuGluArgSerAlaSerAlaAlaAlaHisAspArgAspArgAspValAspLysArgAspSerSerValSerLysAspAspLysGluArgGluSerValGluLysArgHisSerSerHisProSerProAlaProValLeuProValAsnAlaLeuGlyHisThrArgSerSerThrGluGlnIleArgAlaHisLeuAsnThrGluAlaArgGluLysAspLysProLysGluArgGluArgAspHisSerGluSerArgLysAspLeuAlaAlaAspGluHisLysAlaLysGluGlyHisLeuProGluLysAspGlyHisGlyHisGluGlyArgAlaAlaGlyGluGluAlaLysGlnLeuAlaArgValProSerProTyrValArgThrProValValGluSerAlaArgProAsnSerThrSerSerArgGluAlaGluProArgLysGlyGluProAlaTyrGluAsnProLysLysSerSerGluValLysValLysGluGluArgLysGluAspHisAspLeuProProGluAlaProGlnThrHisArgAlaSerGluProProProProAsnSerSerSerSerValHisProGlyProLeuAlaSerMetProMetThrValGlyValThrGlyIleHisProMetAsnSerIleSerSerLeuAspArgThrArgMetMetThrProPheMetGlyIleSerProLeuProGlyGlyGluArgPheProTyrProSerPheHisTrpAspProIleArgAspProLeuArgAspProTyrArgGluLeuAspIleHisArgArgAspProLeuGlyArgAspPheLeuLeuArgAsnAspProLeuHisArgLeuSerThrProArgLeuTyrGluAlaAspArgSerPheArgAspArgGluProHisAspTyrSerHisHisHisHisHisHisHisHisProLeuSerValAspProArgArgGluHisGluArgGlyGlyHisLeuAspGluArgGluArgLeuHisMetLeuArgGluAspTyrGluHisThrArgLeuHisSerValHisProAlaSerLeuAspGlyHisLeuProHisProSerLeuIleThrProGlyLeuProSerMetHisTyrProArgIleSerProThrAlaGlyAsnGlnAsnGlyLeuLeuAsnLysThrProProThrAlaAlaLeuSerAlaProProProLeuIleSerThrLeuGlyGlyArgProValSerProArgArgThrThrProLeuSerAlaGluIleArgGluArgProProSerHisThrLeuLysAspIleGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676859" }, { "@id": "http://reg.genome.network/allele/PA645408057", "coordinates": [ { "allele": "T", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "NM_015570.4:c.1483C>T" ], "proteinEffect": { "hgvs": "NP_056385.1:p.Arg495Ter", "hgvsWellDefined": "NP_056385.1:p.Arg495_Arg1259delinsGlnGluLeuAsnThrArgPheLeuAlaSerGlnSerAlaAspArgGlyAlaSerLeuGlyProProProTyrLeuArgThrGluPheHisGlnHisGlnHisGlnHisGlnHisThrHisGlnHisThrHisGlnHisThrPheThrProPheProHisAlaIleProProThrAlaIleMetProThrProAlaProProMetPheAspLysTyrProThrLysValAspProPheTyrArgHisSerLeuPheHisSerTyrProProAlaValSerGlyIleProProMetIleProProThrGlyProPheGlySerLeuGlnGlyAlaPheGlnProLysThrSerAsnProIleAspValAlaAlaArgProGlyThrValProHisThrLeuLeuGlnLysAspProArgLeuThrAspProPheArgProMetLeuArgLysProGlyLysTrpCysAlaMetHisValHisIleAlaTrpGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnSerMetPheGlyHisLysAspGlyProSerValGlnAsnPheSerAsnProHisGluProTrpAsnArgLeuHisArgThrProProSerPheProThrProProProTrpLeuLysProGlyGluLeuGluArgSerAlaSerAlaAlaAlaHisAspArgAspArgAspValAspLysArgAspSerSerValSerLysAspAspLysGluArgGluSerValGluLysArgHisSerSerHisProSerProAlaProValLeuProValAsnAlaLeuGlyHisThrArgSerSerThrGluGlnIleArgAlaHisLeuAsnThrGluAlaArgGluLysAspLysProLysGluArgGluArgAspHisSerGluSerArgLysAspLeuAlaAlaAspGluHisLysAlaLysGluGlyHisLeuProGluLysAspGlyHisGlyHisGluGlyArgAlaAlaGlyGluGluAlaLysGlnLeuAlaArgValProSerProTyrValArgThrProValValGluSerAlaArgProAsnSerThrSerSerArgGluAlaGluProArgLysGlyGluProAlaTyrGluAsnProLysLysSerSerGluValLysValLysGluGluArgLysGluAspHisAspLeuProProGluAlaProGlnThrHisArgAlaSerGluProProProProAsnSerSerSerSerValHisProGlyProLeuAlaSerMetProMetThrValGlyValThrGlyIleHisProMetAsnSerIleSerSerLeuAspArgThrArgMetMetThrProPheMetGlyIleSerProLeuProGlyGlyGluArgPheProTyrProSerPheHisTrpAspProIleArgAspProLeuArgAspProTyrArgGluLeuAspIleHisArgArgAspProLeuGlyArgAspPheLeuLeuArgAsnAspProLeuHisArgLeuSerThrProArgLeuTyrGluAlaAspArgSerPheArgAspArgGluProHisAspTyrSerHisHisHisHisHisHisHisHisProLeuSerValAspProArgArgGluHisGluArgGlyGlyHisLeuAspGluArgGluArgLeuHisMetLeuArgGluAspTyrGluHisThrArgLeuHisSerValHisProAlaSerLeuAspGlyHisLeuProHisProSerLeuIleThrProGlyLeuProSerMetHisTyrProArgIleSerProThrAlaGlyAsnGlnAsnGlyLeuLeuAsnLysThrProProThrAlaAlaLeuSerAlaProProProLeuIleSerThrLeuGlyGlyArgProValSerProArgArgThrThrProLeuSerAlaGluIleArgGluArgProProSerHisThrLeuLysAspIleGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697572", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342771.10:c.1483C>T" }, "RefSeq": { "hgvs": "NM_015570.4:c.1483C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344087.4:p.Arg495Ter" }, "RefSeq": { "hgvs": "NP_056385.1:p.Arg495Ter" } } } } ], "type": "nucleotide" }