{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA273998", "communityStandardTitle": [ "NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1688110", "active": true, "id": "COSM1688110" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186644[alleleid]", "alleleId": 186644, "preferredName": "NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188819", "RCV": [ "RCV000169157" ], "variationId": 188819 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.100361879G>A?assembly=hg19", "id": "chr1:g.100361879G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.99896323G>A?assembly=hg38", "id": "chr1:g.99896323G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786204490", "rs": 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"NG_012865.1:g.51240G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3420, "referenceAllele": "G", "start": 3419 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361915.8:c.3297G>A" ], "proteinEffect": { "hgvs": "ENSP00000355106.3:p.Trp1099Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.3297G>A" }, "RefSeq": { "hgvs": "NM_000642.3:c.3297G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Trp1099Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Trp1099Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3508, "referenceAllele": "G", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000637337.1:n.3508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763793" }, { "coordinates": [ { "allele": "A", "end": 3775, "referenceAllele": "G", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000294724.8:c.3297G>A" ], "proteinEffect": { "hgvs": "ENSP00000294724.4:p.Trp1099Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS253994" }, { "coordinates": [ { "allele": "A", "end": 3508, "referenceAllele": "G", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361302.7:c.3249G>A" ], "proteinEffect": { "hgvs": "ENSP00000354971.3:p.Trp1083Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265423" }, { "coordinates": [ { "allele": "A", "end": 3508, "referenceAllele": "G", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361522.4:c.3246G>A" ], "proteinEffect": { "hgvs": "ENSP00000354635.4:p.Trp1082Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265519" }, { "coordinates": [ { "allele": "A", "end": 3697, "referenceAllele": "G", "start": 3696 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361915.7:c.3297G>A" ], "proteinEffect": { "hgvs": "ENSP00000355106.3:p.Trp1099Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265709" }, { "coordinates": [ { "allele": "A", "end": 3249, "referenceAllele": "G", "start": 3248 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370161.6:c.3249G>A" ], "proteinEffect": { "hgvs": "ENSP00000359180.2:p.Trp1083Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS267908" }, { "coordinates": [ { "allele": "A", "end": 3495, "referenceAllele": "G", "start": 3494 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370163.7:c.3297G>A" ], "proteinEffect": { "hgvs": "ENSP00000359182.3:p.Trp1099Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS267910" }, { "coordinates": [ { "allele": "A", "end": 3435, "referenceAllele": "G", "start": 3434 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370165.7:c.3297G>A" ], "proteinEffect": { "hgvs": "ENSP00000359184.3:p.Trp1099Ter", "hgvsWellDefined": "ENSP00000359184.3:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267911" }, { "@id": "http://reg.genome.network/allele/PA2825007095", "coordinates": [ { "allele": "A", "end": 3775, "referenceAllele": "G", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000028.2:c.3297G>A" ], "proteinEffect": { "hgvs": "NP_000019.2:p.Trp1099Ter", "hgvsWellDefined": "NP_000019.2:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006093" }, { "@id": "http://reg.genome.network/allele/PA273999", "coordinates": [ { "allele": "A", "end": 3697, "referenceAllele": "G", "start": 3696 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.2:c.3297G>A" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Trp1099Ter", "hgvsWellDefined": "NP_000633.2:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006693" }, { "@id": "http://reg.genome.network/allele/PA2825224269", "coordinates": [ { "allele": "A", "end": 3495, "referenceAllele": "G", "start": 3494 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000643.2:c.3297G>A" ], "proteinEffect": { "hgvs": "NP_000634.2:p.Trp1099Ter", "hgvsWellDefined": "NP_000634.2:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006694" }, { "@id": "http://reg.genome.network/allele/PA915963262", "coordinates": [ { "allele": "A", "end": 3435, "referenceAllele": "G", "start": 3434 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000644.2:c.3297G>A" ], "proteinEffect": { "hgvs": "NP_000635.2:p.Trp1099Ter", "hgvsWellDefined": "NP_000635.2:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006695" }, { "coordinates": [ { "allele": "A", "end": 3508, "referenceAllele": "G", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000645.2:c.3246G>A" ], "proteinEffect": { "hgvs": "NP_000636.2:p.Trp1082Ter", "hgvsWellDefined": "NP_000636.2:p.Trp1082_Leu1515delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006696" }, { "@id": "http://reg.genome.network/allele/PA2825233797", "coordinates": [ { "allele": "A", "end": 3508, "referenceAllele": "G", "start": 3507 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000646.2:c.3249G>A" ], "proteinEffect": { "hgvs": "NP_000637.2:p.Trp1083Ter", "hgvsWellDefined": "NP_000637.2:p.Trp1083_Leu1516delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006697" }, { "coordinates": [ { "allele": "A", "end": 3390, "referenceAllele": "G", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.1:c.3297G>A" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Trp1099Ter", "hgvsWellDefined": "XP_005270614.1:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066566" }, { "coordinates": [ { "allele": "A", "end": 3390, "referenceAllele": "G", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.2:c.3297G>A" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Trp1099Ter", "hgvsWellDefined": "XP_005270614.1:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536956" }, { "coordinates": [ { "allele": "A", "end": 1625, "referenceAllele": "G", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_017000501.2:c.1557G>A" ], "proteinEffect": { "hgvs": "XP_016855990.1:p.Trp519Ter", "hgvsWellDefined": "XP_016855990.1:p.Trp519_Leu952delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556866" }, { "@id": "http://reg.genome.network/allele/PA273999", "coordinates": [ { "allele": "A", "end": 3420, "referenceAllele": "G", "start": 3419 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.3:c.3297G>A" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Trp1099Ter", "hgvsWellDefined": "NP_000633.2:p.Trp1099_Leu1532delinsGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662520", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.3297G>A" }, "RefSeq": { "hgvs": "NM_000642.3:c.3297G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Trp1099Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Trp1099Ter" } } } } ], "type": "nucleotide" }