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"ENSP00000490024.1:p.Arg81_Thr521delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764103" }, { "coordinates": [ { "allele": "T", "end": 212, "endIntronDirection": "-", "endIntronOffset": 626, "referenceAllele": "C", "start": 212, "startIntronDirection": "-", "startIntronOffset": 627 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637964.1:c.193-627C>T" ], "proteinEffect": { "hgvs": "ENSP00000490291.1:n.193-627C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764243" }, { "coordinates": [ { "allele": "T", "end": 315, "referenceAllele": "C", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638008.1:c.*50C>T" ], "proteinEffect": { "hgvs": "ENSP00000490400.1:n.*50C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS764271" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.7:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Arg81Ter", "hgvsWellDefined": "ENSP00000387123.3:p.Arg81_Gln539delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281287" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000412186.1:c.*50C>T" ], "proteinEffect": { "hgvs": "ENSP00000414536.1:n.*50C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS282497" }, { "coordinates": [ { "allele": "T", "end": 261, "referenceAllele": "C", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000413020.5:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000487936.1:p.Arg81Ter", "hgvsWellDefined": "ENSP00000487936.1:p.Arg81_Lys294delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGluGlnTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282872" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000447989.6:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000414132.2:p.Arg108Ter", "hgvsWellDefined": "ENSP00000414132.2:p.Arg108_Gln502delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299515" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.5:c.401C>T" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:n.401C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS304317" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000479989.5:n.424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320248" }, { "coordinates": [ { "allele": "T", "end": 106, "endIntronDirection": "+", "endIntronOffset": 1651, "referenceAllele": "C", "start": 106, "startIntronDirection": "+", "startIntronOffset": 1650 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000503281.5:c.106+1651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS335632" }, { "coordinates": [ { "allele": "T", "end": 213, "endIntronDirection": "+", "endIntronOffset": 1651, "referenceAllele": "C", "start": 213, "startIntronDirection": "+", "startIntronOffset": 1650 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509270.1:c.192+1651C>T" ], "proteinEffect": { "hgvs": "ENSP00000449318.1:n.192+1651C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS340068" }, { "coordinates": [ { "allele": "T", "end": 65, "endIntronDirection": "+", "endIntronOffset": 1651, "referenceAllele": "C", "start": 65, "startIntronDirection": "+", "startIntronOffset": 1650 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509459.5:c.65+1651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS340215" }, { "coordinates": [ { "allele": "T", "end": 235, "referenceAllele": "C", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000510111.6:c.235C>T" ], "proteinEffect": { "hgvs": "ENSP00000447388.1:p.Arg79Ter", "hgvsWellDefined": "ENSP00000447388.1:p.Arg79_Leu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS340714" }, { "coordinates": [ { "allele": "T", "end": 196, "referenceAllele": "C", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000511266.5:n.196C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS341573" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000553117.5:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000448593.1:p.Arg81Ter", "hgvsWellDefined": "ENSP00000448593.1:p.Arg81_Gln475delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369644" }, { "@id": "http://reg.genome.network/allele/PA2826115174", "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.4:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Arg81Ter", "hgvsWellDefined": "NP_001173.2:p.Arg81_Gln539delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015905" }, { "@id": "http://reg.genome.network/allele/PA2826253179", "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.1:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Arg53Ter", "hgvsWellDefined": "NP_001188306.1:p.Arg53_Gln511delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017329" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.1:c.322C>T" ], "proteinEffect": { "hgvs": "NP_001189333.1:p.Arg108Ter", "hgvsWellDefined": "NP_001189333.1:p.Arg108_Gln502delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.1:c.-165C>T" ], "proteinEffect": { "hgvs": "XP_011541719.1:n.-165C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS110339" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.2:c.-165C>T" ], "proteinEffect": { "hgvs": "XP_011541719.1:n.-165C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS555214" }, { "@id": "http://reg.genome.network/allele/PA2826115174", "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Arg81Ter", "hgvsWellDefined": "NP_001173.2:p.Arg81_Gln539delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.241C>T" }, "RefSeq": { "hgvs": "NM_001182.5:c.241C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Arg81Ter" }, "RefSeq": { "hgvs": "NP_001173.2:p.Arg81Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253179", "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.157C>T" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Arg53Ter", "hgvsWellDefined": "NP_001188306.1:p.Arg53_Gln511delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "@id": "http://reg.genome.network/allele/PA2499242051", "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001189333.2:p.Arg81Ter", "hgvsWellDefined": "NP_001189333.2:p.Arg81_Gln475delinsGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }