{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412360962", "communityStandardTitle": [ "NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2932856[alleleid]", "alleleId": 2932856, "preferredName": "NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2769541", "RCV": [ "RCV003510373" ], "variationId": 2769541 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.17745123C>A?assembly=hg19", "id": "chrX:g.17745123C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.17727003C>A?assembly=hg38", "id": "chrX:g.17727003C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2519938626", "rs": 2519938626 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 17727003, "referenceAllele": "C", "start": 17727002 } ], "hgvs": [ "NC_000023.11:g.17727003C>A", "CM000685.2:g.17727003C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 17745123, "referenceAllele": "C", "start": 17745122 } ], "hgvs": [ "NC_000023.10:g.17745123C>A", "CM000685.1:g.17745123C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 17655044, "referenceAllele": "C", "start": 17655043 } ], "hgvs": [ "NC_000023.9:g.17655044C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 356584, "referenceAllele": "C", "start": 356583 } ], "hgvs": [ "NG_011553.2:g.356584C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001812" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3292, "referenceAllele": "C", "start": 3291 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000615422.2:n.3292C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826476" }, { "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "C", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000690608.1:n.1854C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832785" }, { "coordinates": [ { "allele": "A", "end": 3455, "referenceAllele": "C", "start": 3454 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000676302.1:c.2897C>A" ], "proteinEffect": { "hgvs": "ENSP00000502262.1:p.Ser966Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS776002", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676302.1:c.2897C>A" }, "RefSeq": { "hgvs": "NM_001291867.2:c.2897C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502262.1:p.Ser966Ter" }, "RefSeq": { "hgvs": "NP_001278796.1:p.Ser966Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3172, "referenceAllele": "C", "start": 3171 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000380060.7:c.2834C>A" ], "proteinEffect": { "hgvs": "ENSP00000369400.3:p.Ser945Ter", "hgvsWellDefined": "ENSP00000369400.3:p.Ser946_Thr1630delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS272764" }, { "coordinates": [ { "allele": "A", "end": 2640, "referenceAllele": "C", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000398097.7:c.2366C>A" ], "proteinEffect": { "hgvs": "ENSP00000381170.3:p.Ser789Ter", "hgvsWellDefined": "ENSP00000381170.3:p.Ser790_Thr1474delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278131" }, { "coordinates": [ { "allele": "A", "end": 3287, "referenceAllele": "C", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000615422.1:c.2357C>A" ], "proteinEffect": { "hgvs": "ENSP00000480113.1:p.Ser786Ter", "hgvsWellDefined": "ENSP00000480113.1:p.Ser787_Thr1471delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402611" }, { "coordinates": [ { "allele": "A", "end": 2577, "referenceAllele": "C", "start": 2576 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "ENST00000617601.4:c.2285C>A" ], "proteinEffect": { "hgvs": "ENSP00000478433.1:p.Ser762Ter", "hgvsWellDefined": "ENSP00000478433.1:p.Ser763_Thr1447delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403552" }, { "@id": "http://reg.genome.network/allele/PA2825809547", "coordinates": [ { "allele": "A", "end": 2640, "referenceAllele": "C", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001136024.3:c.2366C>A" ], "proteinEffect": { "hgvs": "NP_001129496.1:p.Ser789Ter", "hgvsWellDefined": "NP_001129496.1:p.Ser790_Thr1474delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012570" }, { "@id": "http://reg.genome.network/allele/PA2741852155", "coordinates": [ { "allele": "A", "end": 3235, "referenceAllele": "C", "start": 3234 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291867.1:c.2897C>A" ], "proteinEffect": { "hgvs": "NP_001278796.1:p.Ser966Ter", "hgvsWellDefined": "NP_001278796.1:p.Ser967_Thr1651delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024350" }, { "@id": "http://reg.genome.network/allele/PA2826812100", "coordinates": [ { "allele": "A", "end": 2577, "referenceAllele": "C", "start": 2576 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291868.1:c.2303C>A" ], "proteinEffect": { "hgvs": "NP_001278797.1:p.Ser768Ter", "hgvsWellDefined": "NP_001278797.1:p.Ser769_Thr1453delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024351" }, { "@id": "http://reg.genome.network/allele/PA2830439347", "coordinates": [ { "allele": "A", "end": 3172, "referenceAllele": "C", "start": 3171 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_198270.3:c.2834C>A" ], "proteinEffect": { "hgvs": "NP_938011.1:p.Ser945Ter", "hgvsWellDefined": "NP_938011.1:p.Ser946_Thr1630delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044499" }, { "coordinates": [ { "allele": "A", "end": 2793, "referenceAllele": "C", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "XM_011545528.1:c.1949C>A" ], "proteinEffect": { "hgvs": "XP_011543830.1:p.Ser650Ter", "hgvsWellDefined": "XP_011543830.1:p.Ser651_Thr1335delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112428" }, { "coordinates": [ { "allele": "A", "end": 2784, "referenceAllele": "C", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "XM_011545528.2:c.1949C>A" ], "proteinEffect": { "hgvs": "XP_011543830.1:p.Ser650Ter", "hgvsWellDefined": "XP_011543830.1:p.Ser651_Thr1335delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556127" }, { "@id": "http://reg.genome.network/allele/PA2825809547", "coordinates": [ { "allele": "A", "end": 2433, "referenceAllele": "C", "start": 2432 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001136024.4:c.2366C>A" ], "proteinEffect": { "hgvs": "NP_001129496.1:p.Ser789Ter", "hgvsWellDefined": "NP_001129496.1:p.Ser790_Thr1474delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677381" }, { "@id": "http://reg.genome.network/allele/PA2741852155", "coordinates": [ { "allele": "A", "end": 3455, "referenceAllele": "C", "start": 3454 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291867.2:c.2897C>A" ], "proteinEffect": { "hgvs": "NP_001278796.1:p.Ser966Ter", "hgvsWellDefined": "NP_001278796.1:p.Ser967_Thr1651delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682887", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676302.1:c.2897C>A" }, "RefSeq": { "hgvs": "NM_001291867.2:c.2897C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502262.1:p.Ser966Ter" }, "RefSeq": { "hgvs": "NP_001278796.1:p.Ser966Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826812100", "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_001291868.2:c.2303C>A" ], "proteinEffect": { "hgvs": "NP_001278797.1:p.Ser768Ter", "hgvsWellDefined": "NP_001278797.1:p.Ser769_Thr1453delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682888" }, { "@id": "http://reg.genome.network/allele/PA2830439347", "coordinates": [ { "allele": "A", "end": 3392, "referenceAllele": "C", "start": 3391 } ], "gene": "http://reg.genome.network/gene/GN007820", "geneNCBI_id": 4810, "geneSymbol": "NHS", "hgvs": [ "NM_198270.4:c.2834C>A" ], "proteinEffect": { "hgvs": "NP_938011.1:p.Ser945Ter", "hgvsWellDefined": "NP_938011.1:p.Ser946_Thr1630delinsThrAlaThrGlyThrThrValIleGluCysIleLysSerProGluSerSerGluSerGlnThrSerGlnSerGluSerArgAlaThrThrProSerLeuProSerValAspAsnGluPheLysLeuAlaSerProGluLysLeuAlaGlyLeuAlaSerProSerSerGlyTyrSerSerGlnSerGluThrProThrSerSerPheProThrAlaPhePheSerGlyProLeuSerProGlyGlySerLysArgLysProLysValProGluArgLysSerSerLeuGlnGlnProSerLeuLysAspGlyThrIleSerLeuSerLysAspLeuGluLeuProIleIleProProThrHisLeuAspLeuSerAlaLeuHisAsnValLeuAsnLysProPheHisHisArgHisProLeuHisValPheThrHisAsnLysGlnAsnThrValGlyGluThrLeuArgSerAsnProProProSerLeuAlaIleThrProThrIleLeuLysSerValAsnLeuArgSerIleAsnLysSerGluGluValLysGlnLysGluGluAsnAsnThrAspLeuProTyrLeuGluGluSerThrLeuThrThrAlaAlaLeuSerProSerLysIleArgProHisThrAlaAsnLysSerValSerArgGlnTyrSerThrGluAspThrIleLeuSerPheLeuAspSerSerAlaValGluMetGlyProAspLysLeuHisLeuGluLysAsnSerThrPheAspValLysAsnArgCysAspProGluThrIleThrSerAlaGlySerSerLeuLeuAspSerAsnValThrLysAspGlnValArgThrGluThrGluProIleProGluAsnThrProThrLysAsnCysAlaPheProThrGluGlyPheGlnArgValSerAlaAlaArgProAsnAspLeuAspGlyLysIleIleGlnTyrGlyProGlyProAspGluThrLeuGluGlnValGlnLysAlaProSerAlaGlyLeuGluGluValAlaGlnProGluSerValAspValIleThrSerGlnSerAspSerProThrArgAlaThrAspValSerAsnGlnPheLysHisGlnPheValMetSerArgHisHisAspLysValProGlyThrIleSerTyrGluSerGluIleThrSerValAsnSerPheProGluLysCysSerLysGlnGluAsnIleAlaSerGlyIleSerAlaLysSerAlaSerAspAsnSerLysAlaGluGluThrGlnGlyAsnValAspGluAlaSerLeuLysGluSerSerProSerAspAspSerIleIleSerProLeuSerGluAspSerGlnAlaGluAlaGluGlyValPheValSerProAsnLysProArgThrThrGluAspLeuPheAlaValIleHisArgSerLysArgLysValLeuGlyArgLysAspSerGlyAspMetSerValArgSerLysSerArgAlaProLeuSerSerSerSerSerSerAlaSerSerIleThrSerProSerSerAsnValThrThrProAsnSerGlnArgSerProGlyLeuIleTyrArgAsnAlaLysLysSerAsnThrSerAsnGluGluPheLysLeuLeuLeuLeuLysLysGlySerArgSerAspSerSerTyrArgMetSerAlaThrGluIleLeuLysSerProIleLeuProLysProProGlyGluLeuThrAlaGluSerProGlnSerThrAspAspAlaHisGlnGlySerGlnGlyAlaGluAlaLeuSerProLeuSerProCysSerProArgValAsnAlaGluGlyPheSerSerLysSerPheAlaThrSerAlaSerAlaArgValGlyArgSerArgAlaProProAlaAlaSerSerSerArgTyrSerValArgCysArgLeuTyrAsnThrProMetGlnAlaIleSerGluGlyGluThrGluAsnSerAspGlySerProHisAspAspArgSerSerGlnSerSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701298" } ], "type": "nucleotide" }