{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349701346", "communityStandardTitle": [ "NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834153[alleleid]", "alleleId": 2834153, "preferredName": "NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2674880", "RCV": [ "RCV003459981" ], "variationId": 2674880 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178285024G>A?assembly=hg19", "id": "chr2:g.178285024G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.177420296G>A?assembly=hg38", "id": "chr2:g.177420296G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1685908703", "rs": 1685908703 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 177420296, "referenceAllele": "G", "start": 177420295 } ], "hgvs": [ "NC_000002.12:g.177420296G>A", "CM000664.2:g.177420296G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 178285024, "referenceAllele": "G", "start": 178285023 } ], "hgvs": [ "NC_000002.11:g.178285024G>A", "CM000664.1:g.178285024G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 177993270, "referenceAllele": "G", "start": 177993269 } ], "hgvs": [ "NC_000002.10:g.177993270G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 32554, "referenceAllele": "G", "start": 32553 } ], "hgvs": [ "NG_008968.1:g.32554G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001339" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000264167.11:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000264167.4:p.Trp96Ter", "hgvsWellDefined": "ENSP00000264167.4:p.Trp96_Leu658delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742631", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264167.11:c.288G>A" }, "RefSeq": { "hgvs": "NM_003659.4:c.288G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264167.4:p.Trp96Ter" }, "RefSeq": { "hgvs": "NP_003650.1:p.Trp96Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000460342.2:n.330G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756684" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000637633.2:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000490844.2:p.Trp96Ter", "hgvsWellDefined": "ENSP00000490844.2:p.Trp96_Ser629delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGlyLeuGlnLeuGluGlyThrCysTyrGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764000" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000642466.2:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000494433.2:p.Trp96Ter", "hgvsWellDefined": "ENSP00000494433.2:p.Trp96_Phe676delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGluHisGluProHisSerThrSerThrHisHisGlyArgTyrArgIleProGlnIleCysGlyArgSerPheProProLeuAspAsnPheGlnAspSerSerArgPheLeuProGluProSerThrGlnGluCysIleSerProTrpPheHisHisIleHisSerLeuProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766761" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679421.1:n.318G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779052" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679459.1:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000506137.1:p.Trp96Ter", "hgvsWellDefined": "ENSP00000506137.1:p.Trp96_Leu638delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGluSerArgProValAlaArgLeuGluCysSerGlyMetValSerAlaHisCysAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779090" }, { "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679478.1:c.18G>A" ], "proteinEffect": { "hgvs": "ENSP00000506484.1:p.Trp6Ter", "hgvsWellDefined": "ENSP00000506484.1:p.Trp6_Leu568delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779109" }, { "coordinates": [ { "allele": "A", "end": 91, "referenceAllele": "G", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679639.1:n.91G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779267" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679994.1:c.18G>A" ], "proteinEffect": { "hgvs": "ENSP00000504957.1:p.Trp6Ter", "hgvsWellDefined": "ENSP00000504957.1:p.Trp6_Leu568delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779616" }, { "coordinates": [ { "allele": "A", "end": 453, "referenceAllele": "G", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680028.1:n.453G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779649" }, { "coordinates": [ { "allele": "A", "end": 59, "referenceAllele": "G", "start": 58 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680155.1:c.18G>A" ], "proteinEffect": { "hgvs": "ENSP00000505333.1:p.Trp6Ter", "hgvsWellDefined": "ENSP00000505333.1:p.Trp6_Leu568delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779775" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680677.1:n.318G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780292" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680705.1:n.332G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780320" }, { "coordinates": [ { "allele": "A", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680770.1:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000505536.1:p.Trp96Ter", "hgvsWellDefined": "ENSP00000505536.1:p.Trp96_Glu624delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyGlyIleLeuPheTrpGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780385" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680893.1:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000505929.1:p.Trp96Ter", "hgvsWellDefined": "ENSP00000505929.1:p.Trp96_Arg251delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyArgArgAsnLysCysPheIleTrpProAspValSerCysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780507" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680910.1:n.318G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780524" }, { "coordinates": [ { "allele": "A", "end": 91, "referenceAllele": "G", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681028.1:c.18G>A" ], "proteinEffect": { "hgvs": "ENSP00000506323.1:p.Trp6Ter", "hgvsWellDefined": "ENSP00000506323.1:p.Trp6_Tyr410delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyThrTrpLeuTrpAsnThrMetTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780641" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681032.1:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000505205.1:p.Trp96Ter", "hgvsWellDefined": "ENSP00000505205.1:p.Trp96_Thr245delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyValProGlnIleAlaArgGlyPheThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780645" }, { "coordinates": [ { "allele": "A", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681449.1:c.18G>A" ], "proteinEffect": { "hgvs": "ENSP00000505342.1:p.Trp6Ter", "hgvsWellDefined": "ENSP00000505342.1:p.Trp6_Leu568delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781056" }, { "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681565.1:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000505620.1:p.Trp96Ter", "hgvsWellDefined": "ENSP00000505620.1:p.Trp96_Tyr341delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuCysTyrArgAlaGluAlaHisArgTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781171" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681752.1:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000504994.1:p.Trp96Ter", "hgvsWellDefined": "ENSP00000504994.1:p.Trp96_Ser122delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgAlaLeuIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781355" }, { "coordinates": [ { "allele": "A", "end": 2662, "referenceAllele": "G", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681891.1:n.2662G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781491" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000264167.8:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000264167.4:p.Trp96Ter", "hgvsWellDefined": "ENSP00000264167.4:p.Trp96_Leu658delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251434" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "G", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000409888.1:c.288G>A" ], "proteinEffect": { "hgvs": "ENSP00000386688.1:p.Trp96Ter", "hgvsWellDefined": "ENSP00000386688.1:p.Trp96_Leu189delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281937" }, { "@id": "http://reg.genome.network/allele/PA2741905032", "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "NM_003659.3:c.288G>A" ], "proteinEffect": { "hgvs": "NP_003650.1:p.Trp96Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS028888" }, { "coordinates": [ { "allele": "A", "end": 112, "referenceAllele": "G", "start": 111 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512041.1:c.18G>A" ], "proteinEffect": { "hgvs": "XP_011510343.1:p.Trp6Ter", "hgvsWellDefined": "XP_011510343.1:p.Trp6_Leu568delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079300" }, { "coordinates": [ { "allele": "A", "end": 284, "referenceAllele": "G", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512042.1:c.18G>A" ], "proteinEffect": { "hgvs": "XP_011510344.1:p.Trp6Ter", "hgvsWellDefined": "XP_011510344.1:p.Trp6_Leu568delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079301" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512044.1:c.288G>A" ], "proteinEffect": { "hgvs": "XP_011510346.1:p.Trp96Ter", "hgvsWellDefined": "XP_011510346.1:p.Trp96_Tyr341delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuCysTyrArgAlaGluAlaHisArgTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079303" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "G", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512045.1:c.288G>A" ], "proteinEffect": { "hgvs": "XP_011510347.1:p.Trp96Ter", "hgvsWellDefined": "XP_011510347.1:p.Trp96_Val336delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuGluLeuLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS079304" }, { "coordinates": [ { "allele": "A", "end": 117, "referenceAllele": "G", "start": 116 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512041.2:c.18G>A" ], "proteinEffect": { "hgvs": "XP_011510343.1:p.Trp6Ter", "hgvsWellDefined": "XP_011510343.1:p.Trp6_Leu568delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542393" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XR_001739007.2:n.305G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589420" }, { "@id": "http://reg.genome.network/allele/PA2741905032", "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "G", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "NM_003659.4:c.288G>A" ], "proteinEffect": { "hgvs": "NP_003650.1:p.Trp96Ter", "hgvsWellDefined": "NP_003650.1:p.Trp96_Leu658delinsGlyTyrAsnAspSerLysPheIlePheAsnLysLysGlyGlnIleGluLeuThrGlyLysArgTyrProLeuSerGlyMetGlyLeuProThrPheLysGluTrpIleGlnAsnThrLeuGlyValAsnValGluHisLysThrThrSerLysAlaSerLeuAsnProSerAspThrProProSerValValAsnGluAspPheLeuHisAspLeuLysGluThrAsnIleSerTyrSerGlnGluAlaAspAspArgValPheArgAlaHisGlyHisCysLeuHisGluIlePheLeuLeuArgGluGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666124", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264167.11:c.288G>A" }, "RefSeq": { "hgvs": "NM_003659.4:c.288G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264167.4:p.Trp96Ter" }, "RefSeq": { "hgvs": "NP_003650.1:p.Trp96Ter" } } } } ], "type": "nucleotide" }