{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412368900", "communityStandardTitle": [ "NM_001291867.2(NHS):c.4315C>T (p.Arg1439Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1756486", "active": true, "id": "COSM1756486" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1756487", "active": true, "id": "COSM1756487" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1491064[alleleid]", "alleleId": 1491064, "preferredName": "NM_001291867.2(NHS):c.4315C>T (p.Arg1439Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1458715", "RCV": [ "RCV001975049" ], "variationId": 1458715 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.17746861C>T?assembly=hg19", "id": "chrX:g.17746861C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.17728741C>T?assembly=hg38", "id": "chrX:g.17728741C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2147145827", "rs": 2147145827 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 17728741, "referenceAllele": "C", "start": 17728740 } ], "hgvs": [ "NC_000023.11:g.17728741C>T", "CM000685.2:g.17728741C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 17746861, "referenceAllele": "C", "start": 17746860 } ], "hgvs": [ "NC_000023.10:g.17746861C>T", "CM000685.1:g.17746861C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 17656782, "referenceAllele": "C", "start": 17656781 } ], "hgvs": [ "NC_000023.9:g.17656782C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 358322, "referenceAllele": "C", "start": 358321 } ], "hgvs": [ "NG_011553.2:g.358322C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001812" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4710, "referenceAllele": "C", "start": 4709 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000615422.2:n.4710C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826476" }, { "coordinates": [ { "allele": "T", "end": 3592, "referenceAllele": "C", "start": 3591 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000690608.1:n.3592C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832785" }, { "coordinates": [ { "allele": "T", "end": 4873, "referenceAllele": "C", "start": 4872 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000676302.1:c.4315C>T" ], "proteinEffect": { "hgvs": "ENSP00000502262.1:p.Arg1439Ter", "hgvsWellDefined": "ENSP00000502262.1:p.Arg1439_Thr1651delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776002", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676302.1:c.4315C>T" }, "RefSeq": { "hgvs": "NM_001291867.2:c.4315C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502262.1:p.Arg1439Ter" }, "RefSeq": { "hgvs": "NP_001278796.1:p.Arg1439Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4590, "referenceAllele": "C", "start": 4589 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000380060.7:c.4252C>T" ], "proteinEffect": { "hgvs": "ENSP00000369400.3:p.Arg1418Ter", "hgvsWellDefined": "ENSP00000369400.3:p.Arg1418_Thr1630delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272764" }, { "coordinates": [ { "allele": "T", "end": 4058, "referenceAllele": "C", "start": 4057 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000398097.7:c.3784C>T" ], "proteinEffect": { "hgvs": "ENSP00000381170.3:p.Arg1262Ter", "hgvsWellDefined": "ENSP00000381170.3:p.Arg1262_Thr1474delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278131" }, { "coordinates": [ { "allele": "T", "end": 4705, "referenceAllele": "C", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000615422.1:c.3775C>T" ], "proteinEffect": { "hgvs": "ENSP00000480113.1:p.Arg1259Ter", "hgvsWellDefined": "ENSP00000480113.1:p.Arg1259_Thr1471delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402611" }, { "coordinates": [ { "allele": "T", "end": 3995, "referenceAllele": "C", "start": 3994 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000617601.4:c.3703C>T" ], "proteinEffect": { "hgvs": "ENSP00000478433.1:p.Arg1235Ter", "hgvsWellDefined": "ENSP00000478433.1:p.Arg1235_Thr1447delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403552" }, { "@id": "http://reg.genome.network/allele/PA2825809717", "coordinates": [ { "allele": "T", "end": 4058, "referenceAllele": "C", "start": 4057 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001136024.3:c.3784C>T" ], "proteinEffect": { "hgvs": "NP_001129496.1:p.Arg1262Ter", "hgvsWellDefined": "NP_001129496.1:p.Arg1262_Thr1474delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012570" }, { "@id": "http://reg.genome.network/allele/PA2573196316", "coordinates": [ { "allele": "T", "end": 4653, "referenceAllele": "C", "start": 4652 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291867.1:c.4315C>T" ], "proteinEffect": { "hgvs": "NP_001278796.1:p.Arg1439Ter", "hgvsWellDefined": "NP_001278796.1:p.Arg1439_Thr1651delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024350" }, { "@id": "http://reg.genome.network/allele/PA2826812205", "coordinates": [ { "allele": "T", "end": 3995, "referenceAllele": "C", "start": 3994 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291868.1:c.3721C>T" ], "proteinEffect": { "hgvs": "NP_001278797.1:p.Arg1241Ter", "hgvsWellDefined": "NP_001278797.1:p.Arg1241_Thr1453delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024351" }, { "@id": "http://reg.genome.network/allele/PA2830439455", "coordinates": [ { "allele": "T", "end": 4590, "referenceAllele": "C", "start": 4589 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_198270.3:c.4252C>T" ], "proteinEffect": { "hgvs": "NP_938011.1:p.Arg1418Ter", "hgvsWellDefined": "NP_938011.1:p.Arg1418_Thr1630delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044499" }, { "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "C", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "XM_011545528.1:c.3367C>T" ], "proteinEffect": { "hgvs": "XP_011543830.1:p.Arg1123Ter", "hgvsWellDefined": "XP_011543830.1:p.Arg1123_Thr1335delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112428" }, { "coordinates": [ { "allele": "T", "end": 4202, "referenceAllele": "C", "start": 4201 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "XM_011545528.2:c.3367C>T" ], "proteinEffect": { "hgvs": "XP_011543830.1:p.Arg1123Ter", "hgvsWellDefined": "XP_011543830.1:p.Arg1123_Thr1335delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556127" }, { "@id": "http://reg.genome.network/allele/PA2825809717", "coordinates": [ { "allele": "T", "end": 3851, "referenceAllele": "C", "start": 3850 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001136024.4:c.3784C>T" ], "proteinEffect": { "hgvs": "NP_001129496.1:p.Arg1262Ter", "hgvsWellDefined": "NP_001129496.1:p.Arg1262_Thr1474delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677381" }, { "@id": "http://reg.genome.network/allele/PA2573196316", "coordinates": [ { "allele": "T", "end": 4873, "referenceAllele": "C", "start": 4872 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291867.2:c.4315C>T" ], "proteinEffect": { "hgvs": "NP_001278796.1:p.Arg1439Ter", "hgvsWellDefined": "NP_001278796.1:p.Arg1439_Thr1651delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682887", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676302.1:c.4315C>T" }, "RefSeq": { "hgvs": "NM_001291867.2:c.4315C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502262.1:p.Arg1439Ter" }, "RefSeq": { "hgvs": "NP_001278796.1:p.Arg1439Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826812205", "coordinates": [ { "allele": "T", "end": 3788, "referenceAllele": "C", "start": 3787 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291868.2:c.3721C>T" ], "proteinEffect": { "hgvs": "NP_001278797.1:p.Arg1241Ter", "hgvsWellDefined": "NP_001278797.1:p.Arg1241_Thr1453delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682888" }, { "@id": "http://reg.genome.network/allele/PA2830439455", "coordinates": [ { "allele": "T", "end": 4810, "referenceAllele": "C", "start": 4809 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_198270.4:c.4252C>T" ], "proteinEffect": { "hgvs": "NP_938011.1:p.Arg1418Ter", "hgvsWellDefined": "NP_938011.1:p.Arg1418_Thr1630delinsThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701298" } ], "type": "nucleotide" }