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"XP_016870223.1:p.Gln630_Val791delinsValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567617" }, { "@id": "http://reg.genome.network/allele/PA2826029248", "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166280.2:c.1864C>T" ], "proteinEffect": { "hgvs": "NP_001159752.1:p.Gln622Ter", "hgvsWellDefined": "NP_001159752.1:p.Gln622_Val783delinsValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678482" }, { "@id": "http://reg.genome.network/allele/PA2826029713", "coordinates": [ { "allele": "T", "end": 1948, "referenceAllele": "C", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.2:c.1834C>T" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Gln612Ter", "hgvsWellDefined": "NP_001159753.1:p.Gln612_Val773delinsValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678483" }, { "@id": "http://reg.genome.network/allele/PA2828328701", "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001369398.1:c.862C>T" ], "proteinEffect": { "hgvs": "NP_001356327.1:p.Gln288Ter", "hgvsWellDefined": "NP_001356327.1:p.Gln288_Val449delinsValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691623" }, { "@id": "http://reg.genome.network/allele/PA2741923141", "coordinates": [ { "allele": "T", "end": 2236, "referenceAllele": "C", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.4:c.2122C>T" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Gln708Ter", "hgvsWellDefined": "NP_005583.1:p.Gln708_Val869delinsValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.2122C>T" }, "RefSeq": { "hgvs": "NM_005592.4:c.2122C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Gln708Ter" }, "RefSeq": { "hgvs": "NP_005583.1:p.Gln708Ter" } } } } ], "type": "nucleotide" }