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"ENSP00000490024.1:p.Trp99_Thr521delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764103" }, { "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "G", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637964.1:c.242G>A" ], "proteinEffect": { "hgvs": "ENSP00000490291.1:p.Trp81Ter", "hgvsWellDefined": "ENSP00000490291.1:p.Trp81Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764243" }, { "coordinates": [ { "allele": "A", "end": 370, "referenceAllele": "G", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638008.1:c.*105G>A" ], "proteinEffect": { "hgvs": "ENSP00000490400.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764271" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, 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"ENSP00000387123.3:p.Trp99_Gln539delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281287" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000412186.1:c.*105G>A" ], "proteinEffect": { "hgvs": "ENSP00000414536.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS282497" }, { "coordinates": [ { "allele": "A", "end": 316, "referenceAllele": "G", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000413020.5:c.296G>A" ], "proteinEffect": { "hgvs": "ENSP00000487936.1:p.Trp99Ter", "hgvsWellDefined": "ENSP00000487936.1:p.Trp99_Lys294delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGluGlnTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282872" }, { "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000447989.6:c.377G>A" ], "proteinEffect": { "hgvs": "ENSP00000414132.2:p.Trp126Ter", "hgvsWellDefined": "ENSP00000414132.2:p.Trp126_Gln502delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299515" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.5:c.456G>A" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:n.456G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS304317" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000479989.5:n.479G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320248" }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "+", "endIntronOffset": 2327, "referenceAllele": "G", "start": 106, "startIntronDirection": "+", "startIntronOffset": 2326 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000503281.5:c.106+2327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS335632" }, { "coordinates": [ { "allele": "A", "end": 213, "endIntronDirection": "+", "endIntronOffset": 2327, "referenceAllele": "G", "start": 213, "startIntronDirection": "+", "startIntronOffset": 2326 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509270.1:c.192+2327G>A" ], "proteinEffect": { "hgvs": "ENSP00000449318.1:n.192+2327G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS340068" }, { "coordinates": [ { "allele": "A", "end": 65, "endIntronDirection": "+", "endIntronOffset": 2327, "referenceAllele": "G", "start": 65, "startIntronDirection": "+", "startIntronOffset": 2326 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509459.5:c.65+2327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS340215" }, { "coordinates": [ { "allele": "A", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000510111.6:c.290G>A" ], "proteinEffect": { "hgvs": "ENSP00000447388.1:p.Trp97Ter", "hgvsWellDefined": "ENSP00000447388.1:p.Trp97_Leu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS340714" }, { "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000511266.5:n.251G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341573" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000553117.5:c.296G>A" ], "proteinEffect": { "hgvs": "ENSP00000448593.1:p.Trp99Ter", "hgvsWellDefined": "ENSP00000448593.1:p.Trp99_Gln475delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369644" }, { "@id": "http://reg.genome.network/allele/PA2826115205", "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.4:c.296G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Trp99Ter", "hgvsWellDefined": "NP_001173.2:p.Trp99_Gln539delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015905" }, { "@id": "http://reg.genome.network/allele/PA2826253194", "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.1:c.212G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Trp71Ter", "hgvsWellDefined": "NP_001188306.1:p.Trp71_Gln511delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017329" }, { "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "G", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.1:c.377G>A" ], "proteinEffect": { "hgvs": "NP_001189333.1:p.Trp126Ter", "hgvsWellDefined": "NP_001189333.1:p.Trp126_Gln502delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.1:c.-110G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:n.-110G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS110339" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.2:c.-110G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:n.-110G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS555214" }, { "@id": "http://reg.genome.network/allele/PA2826115205", "coordinates": [ { "allele": "A", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.296G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Trp99Ter", "hgvsWellDefined": "NP_001173.2:p.Trp99_Gln539delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.296G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.296G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Trp99Ter" }, "RefSeq": { "hgvs": "NP_001173.2:p.Trp99Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253194", "coordinates": [ { "allele": "A", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.212G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Trp71Ter", "hgvsWellDefined": "NP_001188306.1:p.Trp71_Gln511delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "@id": "http://reg.genome.network/allele/PA2741843189", "coordinates": [ { "allele": "A", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.296G>A" ], "proteinEffect": { "hgvs": "NP_001189333.2:p.Trp99Ter", "hgvsWellDefined": "NP_001189333.2:p.Trp99_Gln475delinsLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }