{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411502024", "communityStandardTitle": [ "NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=538273[alleleid]", "alleleId": 538273, "preferredName": "NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547774", "RCV": [ "RCV000660272", "RCV004533451", "RCV001290165" ], "variationId": 547774 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38379665G>A?assembly=hg19", "id": "chr22:g.38379665G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.37983658G>A?assembly=hg38", "id": "chr22:g.37983658G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555939523", "rs": 1555939523 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-37983658-G-A?dataset=gnomad_r4", "id": "22-37983658-G-A", "variant": "22:37983658 G / A" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 37983658, "referenceAllele": "G", "start": 37983657 } ], "hgvs": [ "NC_000022.11:g.37983658G>A", "CM000684.2:g.37983658G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 38379665, "referenceAllele": "G", "start": 38379664 } ], "hgvs": [ "NC_000022.10:g.38379665G>A", "CM000684.1:g.38379665G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 36709611, "referenceAllele": "G", "start": 36709610 } ], "hgvs": [ "NC_000022.9:g.36709611G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "T", "end": 5875, "referenceAllele": "C", "start": 5874 } ], "hgvs": [ "NG_007948.1:g.5875C>T", "LRG_271:g.5875C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000716" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "C", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000698177.1:c.343C>T" ], "proteinEffect": { "hgvs": "ENSP00000513596.1:p.Arg115Ter", "hgvsWellDefined": "ENSP00000513596.1:p.Arg115_Pro538delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909201" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000690831.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000510381.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000510381.1:p.Arg43_Arg143delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832898" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000396884.8:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000380093.2:p.Arg43Ter", "hgvsWellDefined": "ENSP00000380093.2:p.Arg43_Pro466delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753575", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396884.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_006941.4:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380093.2:p.Arg43Ter" }, "RefSeq": { "hgvs": "NP_008872.1:p.Arg43Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000652356.1:n.416C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772161" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000360880.6:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000354130.2:p.Arg43Ter", "hgvsWellDefined": "ENSP00000354130.2:p.Arg43_Pro466delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265281" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000396884.6:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000380093.2:p.Arg43Ter", "hgvsWellDefined": "ENSP00000380093.2:p.Arg43_Pro466delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277488" }, { "coordinates": [ { "allele": "A", "end": 370, "endIntronDirection": "+", "endIntronOffset": 16488, "referenceAllele": "G", "start": 370, "startIntronDirection": "+", "startIntronOffset": 16487 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "ENST00000405557.5:c.293+16488G>A" ], "proteinEffect": { "hgvs": "ENSP00000384112.1:n.293+16488G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS280382" }, { "coordinates": [ { "allele": "A", "end": 384, "endIntronDirection": "-", "endIntronOffset": 2495, "referenceAllele": "G", "start": 384, "startIntronDirection": "-", "startIntronOffset": 2496 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "ENST00000407936.5:c.294-2496G>A" ], "proteinEffect": { "hgvs": "ENSP00000385725.1:n.294-2496G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS281053" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000427770.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000414853.1:p.Arg43Ter", "hgvsWellDefined": "ENSP00000414853.1:p.Arg43Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289865" }, { "coordinates": [ { "allele": "A", "end": 463, "endIntronDirection": "-", "endIntronOffset": 1393, "referenceAllele": "G", "start": 463, "startIntronDirection": "-", "startIntronOffset": 1394 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "ENST00000443002.5:c.*39-1394G>A" ], "proteinEffect": { "hgvs": "ENSP00000406826.1:n.*39-1394G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS297139" }, { "coordinates": [ { "allele": "T", "end": 70, "endIntronDirection": "+", "endIntronOffset": 681, "referenceAllele": "C", "start": 70, "startIntronDirection": "+", "startIntronOffset": 680 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "ENST00000470555.1:n.70+681C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312959" }, { "coordinates": [ { "allele": "A", "end": 418, "endIntronDirection": "-", "endIntronOffset": 2495, "referenceAllele": "G", "start": 418, "startIntronDirection": "-", "startIntronOffset": 2496 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "NM_001301130.1:c.294-2496G>A" ], "proteinEffect": { "hgvs": "NP_001288059.1:n.294-2496G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS025118" }, { "coordinates": [ { "allele": "A", "end": 418, "endIntronDirection": "+", "endIntronOffset": 16488, "referenceAllele": "G", "start": 418, "startIntronDirection": "+", "startIntronOffset": 16487 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "NM_001301131.1:c.293+16488G>A" ], "proteinEffect": { "hgvs": "NP_001288060.1:n.293+16488G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS025119" }, { "@id": "http://reg.genome.network/allele/PA658829109", "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "NM_006941.3:c.127C>T", "LRG_271t1:c.127C>T" ], "proteinEffect": { "hgvs": "NP_008872.1:p.Arg43Ter", "hgvsWellDefined": "NP_008872.1:p.Arg43_Pro466delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031913" }, { "coordinates": [ { "allele": "A", "end": 158, "endIntronDirection": "+", "endIntronOffset": 11348, "referenceAllele": "G", "start": 158, "startIntronDirection": "+", "startIntronOffset": 11347 } ], "hgvs": [ "XR_938243.1:n.158+11348G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132945" }, { "coordinates": [ { "allele": "A", "end": 499, "endIntronDirection": "+", "endIntronOffset": 11348, "referenceAllele": "G", "start": 499, "startIntronDirection": "+", "startIntronOffset": 11347 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "NM_001363825.1:c.*38+11348G>A" ], "proteinEffect": { "hgvs": "NP_001350754.1:n.*38+11348G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523584" }, { "coordinates": [ { "allele": "A", "end": 382, "endIntronDirection": "-", "endIntronOffset": 2495, "referenceAllele": "G", "start": 382, "startIntronDirection": "-", "startIntronOffset": 2496 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "NM_001301130.2:c.294-2496G>A" ], "proteinEffect": { "hgvs": "NP_001288059.1:n.294-2496G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS683356" }, { "coordinates": [ { "allele": "A", "end": 382, "endIntronDirection": "+", "endIntronOffset": 16488, "referenceAllele": "G", "start": 382, "startIntronDirection": "+", "startIntronOffset": 16487 } ], "gene": "http://reg.genome.network/gene/GN009193", "geneNCBI_id": 5435, "geneSymbol": "POLR2F", "hgvs": [ "NM_001301131.2:c.293+16488G>A" ], "proteinEffect": { "hgvs": "NP_001288060.1:n.293+16488G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS683357" }, { "@id": "http://reg.genome.network/allele/PA658829109", "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN011190", "geneNCBI_id": 6663, "geneSymbol": "SOX10", "hgvs": [ "NM_006941.4:c.127C>T" ], "proteinEffect": { "hgvs": "NP_008872.1:p.Arg43Ter", "hgvsWellDefined": "NP_008872.1:p.Arg43_Pro466delinsAlaSerProGlyProGlyGluLeuGlyLysValLysLysGluGlnGlnAspGlyGluAlaAspAspAspLysPheProValCysIleArgGluAlaValSerGlnValLeuSerGlyTyrAspTrpThrLeuValProMetProValArgValAsnGlyAlaSerLysSerLysProHisValLysArgProMetAsnAlaPheMetValTrpAlaGlnAlaAlaArgArgLysLeuAlaAspGlnTyrProHisLeuHisAsnAlaGluLeuSerLysThrLeuGlyLysLeuTrpArgLeuLeuAsnGluSerAspLysArgProPheIleGluGluAlaGluArgLeuArgMetGlnHisLysLysAspHisProAspTyrLysTyrGlnProArgArgArgLysAsnGlyLysAlaAlaGlnGlyGluAlaGluCysProGlyGlyGluAlaGluGlnGlyGlyThrAlaAlaIleGlnAlaHisTyrLysSerAlaHisLeuAspHisArgHisProGlyGluGlySerProMetSerAspGlyAsnProGluHisProSerGlyGlnSerHisGlyProProThrProProThrThrProLysThrGluLeuGlnSerGlyLysAlaAspProLysArgAspGlyArgSerMetGlyGluGlyGlyLysProHisIleAspPheGlyAsnValAspIleGlyGluIleSerHisGluValMetSerAsnMetGluThrPheAspValAlaGluLeuAspGlnTyrLeuProProAsnGlyHisProGlyHisValSerSerTyrSerAlaAlaGlyTyrGlyLeuGlySerAlaLeuAlaValAlaSerGlyHisSerAlaTrpIleSerLysProProGlyValAlaLeuProThrValSerProProGlyValAspAlaLysAlaGlnValLysThrGluThrAlaGlyProGlnGlyProProHisTyrThrAspGlnProSerThrSerGlnIleAlaTyrThrSerLeuSerLeuProHisTyrGlySerAlaPheProSerIleSerArgProGlnPheAspTyrSerAspHisGlnProSerGlyProTyrTyrGlyHisSerGlyGlnAlaSerGlyLeuTyrSerAlaPheSerTyrMetGlyProSerGlnArgProLeuTyrThrAlaIleSerAspProSerProSerGlyProGlnSerHisSerProThrHisTrpGluGlnProValTyrThrThrLeuSerArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696861", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396884.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_006941.4:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000380093.2:p.Arg43Ter" }, "RefSeq": { "hgvs": "NP_008872.1:p.Arg43Ter" } } } } ], "type": "nucleotide" }