{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351116690", "communityStandardTitle": [ "NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1405776", "active": true, "id": "COSM1405776" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4785584", "active": true, "id": "COSM4785584" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1053158[alleleid]", "alleleId": 1053158, "preferredName": "NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1064867", "RCV": [ "RCV001375039" ], "variationId": 1064867 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.223086070G>A?assembly=hg19", "id": "chr2:g.223086070G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.222221351G>A?assembly=hg38", "id": "chr2:g.222221351G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2106074565", "rs": 2106074565 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 222221351, "referenceAllele": "G", "start": 222221350 } ], "hgvs": [ "NC_000002.12:g.222221351G>A", "CM000664.2:g.222221351G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 223086070, "referenceAllele": "G", "start": 223086069 } ], "hgvs": [ "NC_000002.11:g.223086070G>A", "CM000664.1:g.223086070G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 222794314, "referenceAllele": "G", "start": 222794313 } ], "hgvs": [ "NC_000002.10:g.222794314G>A" ], "referenceGenome": "NCBI36", 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"ENSP00000342092.4:p.Gln277_Lys403delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261985" }, { "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000350526.8:c.829C>T" ], "proteinEffect": { "hgvs": "ENSP00000343052.4:p.Gln277Ter", "hgvsWellDefined": 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"ENSP00000375921.2:p.Gln277Ter", "hgvsWellDefined": "ENSP00000375921.2:p.Gln277_Gln505delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274907" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000392070.6:c.829C>T" ], "proteinEffect": { "hgvs": "ENSP00000375922.2:p.Gln277Ter", "hgvsWellDefined": "ENSP00000375922.2:p.Gln277_Ala484delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274908" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000409551.7:c.826C>T" ], "proteinEffect": { "hgvs": "ENSP00000386750.3:p.Gln276Ter", "hgvsWellDefined": "ENSP00000386750.3:p.Gln276_Ala483delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281647" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "C", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000464706.5:n.253C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308472" }, { "coordinates": [ { "allele": "T", "end": 60, "referenceAllele": "C", "start": 59 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "ENST00000555548.1:n.60C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS371522" }, { "@id": "http://reg.genome.network/allele/PA2825603986", "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_001127366.2:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001120838.1:p.Gln276Ter", "hgvsWellDefined": "NP_001120838.1:p.Gln276_Ala483delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011592" }, { "@id": "http://reg.genome.network/allele/PA2830388798", "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181457.3:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852122.1:p.Gln277Ter", "hgvsWellDefined": "NP_852122.1:p.Gln277_Phe479delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043713" }, { "@id": "http://reg.genome.network/allele/PA2830389140", "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181458.3:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852123.1:p.Gln277Ter", "hgvsWellDefined": "NP_852123.1:p.Gln277_Ala484delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043714" }, { "@id": "http://reg.genome.network/allele/PA2830389504", "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.3:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Gln277Ter", "hgvsWellDefined": "NP_852124.1:p.Gln277_Gln505delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043715" }, { "@id": "http://reg.genome.network/allele/PA2830389777", "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.3:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Gln277Ter", "hgvsWellDefined": "NP_852125.1:p.Gln277_Phe407delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043716" }, { "@id": "http://reg.genome.network/allele/PA2499301925", "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.3:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Gln277Ter", "hgvsWellDefined": "NP_852126.1:p.Gln277_Lys403delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS043717" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "C", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511278.1:c.973C>T" ], "proteinEffect": { "hgvs": "XP_011509580.1:p.Gln325Ter", "hgvsWellDefined": "XP_011509580.1:p.Gln325_Gln553delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078539" }, { "coordinates": [ { "allele": "T", "end": 347, "referenceAllele": "C", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "XM_011511279.1:c.265C>T" ], "proteinEffect": { "hgvs": "XP_011509581.1:p.Gln89Ter", "hgvsWellDefined": "XP_011509581.1:p.Gln89_Gln317delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078540" }, { "@id": "http://reg.genome.network/allele/PA2825603986", "coordinates": [ { "allele": "T", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_001127366.3:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001120838.1:p.Gln276Ter", "hgvsWellDefined": "NP_001120838.1:p.Gln276_Ala483delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676873" }, { "@id": "http://reg.genome.network/allele/PA2830388798", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181457.4:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852122.1:p.Gln277Ter", "hgvsWellDefined": "NP_852122.1:p.Gln277_Phe479delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerLysProTrpThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700946" }, { "@id": "http://reg.genome.network/allele/PA2830389140", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181458.4:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852123.1:p.Gln277Ter", "hgvsWellDefined": "NP_852123.1:p.Gln277_Ala484delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700947", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392070.7:c.829C>T" }, "RefSeq": { "hgvs": "NM_181458.4:c.829C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000375922.3:p.Gln277Ter" }, "RefSeq": { "hgvs": "NP_852123.1:p.Gln277Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830389504", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181459.4:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852124.1:p.Gln277Ter", "hgvsWellDefined": "NP_852124.1:p.Gln277_Gln505delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValMetGlyLeuLeuThrAsnHisGlyGlyValProHisGlnProGlnThrAspTyrAlaLeuSerProLeuThrGlyGlyLeuGluProThrThrThrValSerAlaSerCysSerGlnArgLeuAspHisMetLysSerLeuAspSerLeuProThrSerGlnSerTyrCysProProThrTyrSerThrThrGlyTyrSerMetAspProValThrGlyTyrGlnTyrGlyGlnTyrGlyGlnSerAlaPheHisTyrLeuLysProAspIleAlaTrpPheGlnIleLeuLeuAsnThrPheAspLysSerSerGlyGluGluGluAspLeuGluGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700948" }, { "@id": "http://reg.genome.network/allele/PA2830389777", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181460.4:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852125.1:p.Gln277Ter", "hgvsWellDefined": "NP_852125.1:p.Gln277_Phe407delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerLeuGlyPheLysSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700949" }, { "@id": "http://reg.genome.network/allele/PA2499301925", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN008617", "geneNCBI_id": 5077, "geneSymbol": "PAX3", "hgvs": [ "NM_181461.4:c.829C>T" ], "proteinEffect": { "hgvs": "NP_852126.1:p.Gln277Ter", "hgvsWellDefined": "NP_852126.1:p.Gln277_Lys403delinsAlaGlyAlaAsnGlnLeuMetAlaPheAsnHisLeuIleProGlyGlyPheProProThrAlaMetProThrLeuProThrTyrGlnLeuSerGluThrSerTyrGlnProThrSerIleProGlnAlaValSerAspProSerSerThrValHisArgProGlnProLeuProProSerThrValHisGlnSerThrIleProSerAsnProAspSerSerSerAlaTyrCysLeuProSerThrArgHisGlyPheSerSerTyrThrAspSerPheValProProSerGlyProSerAsnProMetAsnProThrIleGlyAsnGlyLeuSerProGlnValProPheIleIleSerSerGlnIleSerArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700950" } ], "type": "nucleotide" }