{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412656810", "communityStandardTitle": [ "NM_004006.3(DMD):c.7754G>A (p.Trp2585Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3851169[alleleid]", "alleleId": 3851169, "preferredName": "NM_004006.3(DMD):c.7754G>A (p.Trp2585Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3725266", "RCV": [ "RCV005204137" ], "variationId": 3725266 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31697610C>T?assembly=hg19", "id": "chrX:g.31697610C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.31679493C>T?assembly=hg38", "id": "chrX:g.31679493C>T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31679493, "referenceAllele": "C", "start": 31679492 } ], "hgvs": [ "NC_000023.11:g.31679493C>T", "CM000685.2:g.31679493C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31697610, "referenceAllele": "C", "start": 31697609 } ], "hgvs": [ "NC_000023.10:g.31697610C>T", "CM000685.1:g.31697610C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 31607531, "referenceAllele": "C", "start": 31607530 } ], "hgvs": [ "NC_000023.9:g.31607531C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 1665117, "referenceAllele": "G", "start": 1665116 } ], "hgvs": [ "NG_012232.1:g.1665117G>A", "LRG_199:g.1665117G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002304" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2600, "referenceAllele": "G", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.7:c.2600G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.3:p.Trp867Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS904459" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000682238.1:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000508124.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827233" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683117.1:n.1415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828102" }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "G", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683450.1:n.1219G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828427" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683851.1:n.1415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828818" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000683957.1:n.1246G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828920" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000684130.1:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000508037.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS829088" }, { "coordinates": [ { "allele": "A", "end": 7991, "referenceAllele": "G", "start": 7990 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.9:c.7754G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS748881", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.7754G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.7754G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Trp2585Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Trp2585Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3902, "referenceAllele": "G", "start": 3901 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.5:c.3722G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.2:p.Trp1241Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762247" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.5:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.2:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762258" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000680961.1:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000506386.1:p.Trp125Ter", "hgvsWellDefined": "ENSP00000506386.1:p.Trp125_Leu816delinsLeuGluAlaLysGluGluAlaGluGlnValLeuGlyGlnAlaArgAlaLysLeuGluSerTrpLysGluGlyProTyrThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheValGlnGluSerLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780575" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681646.1:n.1415G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781252" }, { "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000681839.1:c.743G>A" ], "proteinEffect": { "hgvs": "ENSP00000505228.1:p.Trp248Ter", "hgvsWellDefined": "ENSP00000505228.1:p.Trp248Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS781441" }, { "coordinates": [ { "allele": "A", "end": 7961, "referenceAllele": "G", "start": 7960 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000357033.8:c.7754G>A" ], "proteinEffect": { "hgvs": "ENSP00000354923.3:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS263955" }, { "coordinates": [ { "allele": "A", "end": 842, "referenceAllele": "G", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000358062.6:c.842G>A" ], "proteinEffect": { "hgvs": "ENSP00000350765.2:p.Trp281Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS264318" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000359836.5:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000352894.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS264919" }, { "coordinates": [ { "allele": "A", "end": 7937, "referenceAllele": "G", "start": 7936 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378677.6:c.7742G>A" ], "proteinEffect": { "hgvs": "ENSP00000367948.2:p.Trp2581Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS272146" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000378707.7:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000367979.3:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS272163" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000474231.5:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000417123.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS315787" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000541735.5:c.374G>A" ], "proteinEffect": { "hgvs": "ENSP00000444119.1:p.Trp125Ter", "hgvsWellDefined": "ENSP00000444119.1:p.Trp125_Met1115delinsLeuGluAlaLysGluGluAlaGluGlnValLeuGlyGlnAlaArgAlaLysLeuGluSerTrpLysGluGlyProTyrThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363087" }, { "coordinates": [ { "allele": "A", "end": 7739, "referenceAllele": "G", "start": 7738 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000619831.4:c.7739G>A" ], "proteinEffect": { "hgvs": "ENSP00000479270.1:p.Trp2580Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS404545" }, { "coordinates": [ { "allele": "A", "end": 7751, "referenceAllele": "G", "start": 7750 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "ENST00000620040.4:c.7751G>A" ], "proteinEffect": { "hgvs": "ENSP00000478150.1:p.Trp2584Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS404642" }, { "coordinates": [ { "allele": "A", "end": 8074, "referenceAllele": "G", "start": 8073 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.3:c.7730G>A" ], "proteinEffect": { "hgvs": "NP_000100.2:p.Trp2577Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006172" }, { "coordinates": [ { "allele": "A", "end": 7998, "referenceAllele": "G", "start": 7997 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.2:c.7754G>A", "LRG_199t1:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_003997.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029203" }, { "coordinates": [ { "allele": "A", "end": 8005, "referenceAllele": "G", "start": 8004 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004009.3:c.7742G>A" ], "proteinEffect": { "hgvs": "NP_004000.1:p.Trp2581Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029204" }, { "coordinates": [ { "allele": "A", "end": 8088, "referenceAllele": "G", "start": 8087 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004010.3:c.7385G>A" ], "proteinEffect": { "hgvs": "NP_004001.1:p.Trp2462Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029205" }, { "coordinates": [ { "allele": "A", "end": 3776, "referenceAllele": "G", "start": 3775 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.3:c.3731G>A" ], "proteinEffect": { "hgvs": "NP_004002.2:p.Trp1244Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029206" }, { "coordinates": [ { "allele": "A", "end": 3919, "referenceAllele": "G", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.3:c.3722G>A" ], "proteinEffect": { "hgvs": "NP_004003.1:p.Trp1241Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029207" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.2:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004004.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029208" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.3:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004011.2:p.Trp125Ter", "hgvsWellDefined": "NP_004011.2:p.Trp125_Met1115delinsLeuGluAlaLysGluGluAlaGluGlnValLeuGlyGlnAlaArgAlaLysLeuGluSerTrpLysGluGlyProTyrThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuGlnGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029215" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.2:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004012.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029216" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.2:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004013.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029217" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.2:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004014.1:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS029218" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724468.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_006724531.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075527" }, { "coordinates": [ { "allele": "A", "end": 7833, "referenceAllele": "G", "start": 7832 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.2:c.7730G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Trp2577Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075528" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075529" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724471.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_006724534.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075530" }, { "coordinates": [ { "allele": "A", "end": 7822, "referenceAllele": "G", "start": 7821 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724472.2:c.7625G>A" ], "proteinEffect": { "hgvs": "XP_006724535.1:p.Trp2542Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075531" }, { "coordinates": [ { "allele": "A", "end": 7813, "referenceAllele": "G", "start": 7812 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724473.2:c.7616G>A" ], "proteinEffect": { "hgvs": "XP_006724536.1:p.Trp2539Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075532" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS075533" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724475.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_006724538.1:p.Trp2585Ter", "hgvsWellDefined": "XP_006724538.1:p.Trp2585_Met3575delinsLeuGluAlaLysGluGluAlaGluGlnValLeuGlyGlnAlaArgAlaLysLeuGluSerTrpLysGluGlyProTyrThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075534" }, { "coordinates": [ { "allele": "A", "end": 7828, "referenceAllele": "G", "start": 7827 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545467.1:c.7631G>A" ], "proteinEffect": { "hgvs": "XP_011543769.1:p.Trp2544Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS112367" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Trp2585Ter", "hgvsWellDefined": "XP_011543770.1:p.Trp2585_Leu3295delinsLeuGluAlaLysGluGluAlaGluGlnValLeuGlyGlnAlaArgAlaLysLeuGluSerTrpLysGluGlyProTyrThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112368" }, { "coordinates": [ { "allele": "A", "end": 7925, "referenceAllele": "G", "start": 7924 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724469.3:c.7730G>A" ], "proteinEffect": { "hgvs": "XP_006724532.1:p.Trp2577Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540982" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724470.3:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_006724533.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540983" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_006724474.3:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_006724537.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540984" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_011545468.2:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_011543770.1:p.Trp2585Ter", "hgvsWellDefined": "XP_011543770.1:p.Trp2585_Leu3295delinsLeuGluAlaLysGluGluAlaGluGlnValLeuGlyGlnAlaArgAlaLysLeuGluSerTrpLysGluGlyProTyrThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556096" }, { "coordinates": [ { "allele": "A", "end": 7951, "referenceAllele": "G", "start": 7950 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029328.1:c.7754G>A" ], "proteinEffect": { "hgvs": "XP_016884817.1:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS578892" }, { "coordinates": [ { "allele": "A", "end": 2527, "referenceAllele": "G", "start": 2526 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "XM_017029331.1:c.1928G>A" ], "proteinEffect": { "hgvs": "XP_016884820.1:p.Trp643Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS578895" }, { "coordinates": [ { "allele": "A", "end": 7853, "referenceAllele": "G", "start": 7852 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.7730G>A" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Trp2577Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "A", "end": 7991, "referenceAllele": "G", "start": 7990 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.7754G>A" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Trp2585Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.7754G>A" }, "RefSeq": { "hgvs": "NM_004006.3:c.7754G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Trp2585Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Trp2585Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3750, "referenceAllele": "G", "start": 3749 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.3731G>A" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Trp1244Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "coordinates": [ { "allele": "A", "end": 3893, "referenceAllele": "G", "start": 3892 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.3722G>A" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Trp1241Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004021.3:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004012.2:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696022" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004014.2:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829508260", "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:p.Trp125Ter", "hgvsWellDefined": "NP_004011.3:p.Trp125_Met1115delinsLeuGluAlaLysGluGluAlaGluGlnValLeuGlyGlnAlaArgAlaLysLeuGluSerTrpLysGluGlyProTyrThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.374G>A" ], "proteinEffect": { "hgvs": "NP_004013.2:p.Trp125Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }