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"hgvs": "NP_001189333.1:n.1089+3304G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "G", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.1:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Trp228Ter", "hgvsWellDefined": "XP_011541719.1:p.Trp228_Gln404delinsAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110339" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "G", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "XM_011543417.2:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011541719.1:p.Trp228Ter", "hgvsWellDefined": "XP_011541719.1:p.Trp228_Gln404delinsAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555214" }, { "@id": "http://reg.genome.network/allele/PA2573180752", "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.1088G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Trp363Ter", "hgvsWellDefined": "NP_001173.2:p.Trp363_Gln539delinsAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.1088G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.1088G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Trp363Ter" }, "RefSeq": { "hgvs": "NP_001173.2:p.Trp363Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253421", "coordinates": [ { "allele": "A", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.1004G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Trp335Ter", "hgvsWellDefined": "NP_001188306.1:p.Trp335_Gln511delinsAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "coordinates": [ { "allele": "A", "end": 1029, "endIntronDirection": "+", "endIntronOffset": 3304, "referenceAllele": "G", "start": 1029, "startIntronDirection": "+", "startIntronOffset": 3303 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.1008+3304G>A" ], "proteinEffect": { "hgvs": "NP_001189333.2:n.1008+3304G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }