{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA371800300", "communityStandardTitle": [ "NM_003114.5(SPAG1):c.311C>A (p.Ser104Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457759[alleleid]", "alleleId": 457759, "preferredName": "NM_003114.5(SPAG1):c.311C>A (p.Ser104Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/474661", "RCV": [ "RCV000538474" ], "variationId": 474661 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.101190054C>A?assembly=hg19", "id": "chr8:g.101190054C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.100177826C>A?assembly=hg38", "id": "chr8:g.100177826C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1275662909", "rs": 1275662909 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-101190054-C-A?dataset=gnomad_r2_1", "id": "8-101190054-C-A", "variant": "8:101190054 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-100177826-C-A?dataset=gnomad_r3", "id": "8-100177826-C-A", "variant": "8:100177826 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-100177826-C-A?dataset=gnomad_r4", "id": "8-100177826-C-A", "variant": "8:100177826 C / A" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 100177826, "referenceAllele": "C", "start": 100177825 } ], "hgvs": [ "NC_000008.11:g.100177826C>A", "CM000670.2:g.100177826C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 101190054, "referenceAllele": "C", "start": 101190053 } ], "hgvs": [ "NC_000008.10:g.101190054C>A", "CM000670.1:g.101190054C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 101259230, "referenceAllele": "C", "start": 101259229 } ], "hgvs": [ "NC_000008.9:g.101259230C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 24792, "referenceAllele": "C", "start": 24791 } ], "hgvs": [ "NG_033834.1:g.24792C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005532" }, { "coordinates": [ { "allele": "A", "end": 24792, "referenceAllele": "C", "start": 24791 } ], "hgvs": [ "NG_033834.2:g.24792C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673891" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "ENST00000388798.7:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000373450.3:p.Ser104Ter", "hgvsWellDefined": "ENSP00000373450.3:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752752", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000388798.7:c.311C>A" }, "RefSeq": { "hgvs": "NM_003114.5:c.311C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373450.3:p.Ser104Ter" }, "RefSeq": { "hgvs": "NP_003105.2:p.Ser104Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "ENST00000251809.4:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000251809.3:p.Ser104Ter", "hgvsWellDefined": "ENSP00000251809.3:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249765" }, { "coordinates": [ { "allele": "A", "end": 502, "referenceAllele": "C", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "ENST00000388798.6:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000373450.2:p.Ser104Ter", "hgvsWellDefined": "ENSP00000373450.2:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274079" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "ENST00000520508.5:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000428070.1:p.Ser104Ter", "hgvsWellDefined": "ENSP00000428070.1:p.Ser104_Ser416delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysSerLysIlePhePheLeuPheArgLeuCysLysLysLeuProPheAsnMetMetSerTrpLeuAsnPheSerIleArgThrGluIleArgAsnLeuSerValPheLeuAlaLeuProCysLysPheThrSerGlnPheArgSerSerPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347536" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "ENST00000520643.5:c.311C>A" ], "proteinEffect": { "hgvs": "ENSP00000427716.1:p.Ser104Ter", "hgvsWellDefined": "ENSP00000427716.1:p.Ser104_Ser416delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysSerLysIlePhePheLeuPheArgLeuCysLysLysLeuProPheAsnMetMetSerTrpLeuAsnPheSerIleArgThrGluIleArgAsnLeuSerValPheLeuAlaLeuProCysLysPheThrSerGlnPheArgSerSerPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347640" }, { "@id": "http://reg.genome.network/allele/PA2829413908", "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "C", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "NM_003114.4:c.311C>A" ], "proteinEffect": { "hgvs": "NP_003105.2:p.Ser104Ter", "hgvsWellDefined": "NP_003105.2:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028386" }, { "@id": "http://reg.genome.network/allele/PA658664800", "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "NM_172218.2:c.311C>A" ], "proteinEffect": { "hgvs": "NP_757367.1:p.Ser104Ter", "hgvsWellDefined": "NP_757367.1:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042695" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517240.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515542.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515542.1:p.Ser104_Leu875delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084439" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517241.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515543.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515543.1:p.Ser104_Leu871delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084440" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517242.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515544.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515544.1:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084441" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517243.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515545.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515545.1:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084442" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517244.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515546.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515546.1:p.Ser104_Ala668delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgIleIleArgLysAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084443" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517245.1:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515547.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515547.1:p.Ser104_Leu487delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlyLeuTrpAsnPheIleHisSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084444" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517240.2:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515542.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515542.1:p.Ser104_Leu875delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544467" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517241.2:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515543.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515543.1:p.Ser104_Leu871delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544468" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517242.2:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515544.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515544.1:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544469" }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517243.2:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515545.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515545.1:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544470" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_011517245.2:c.311C>A" ], "proteinEffect": { "hgvs": "XP_011515547.1:p.Ser104Ter", "hgvsWellDefined": "XP_011515547.1:p.Ser104_Leu487delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlyLeuTrpAsnPheIleHisSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544471" }, { "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_017013754.1:c.416C>A" ], "proteinEffect": { "hgvs": "XP_016869243.1:p.Ser139Ter", "hgvsWellDefined": "XP_016869243.1:p.Ser139_Leu961delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566932" }, { "coordinates": [ { "allele": "A", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XM_017013755.1:c.-26C>A" ], "proteinEffect": { "hgvs": "XP_016869244.1:n.-26C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS566933" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XR_001745580.1:n.397C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594071" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XR_001745581.1:n.397C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594072" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XR_001745582.1:n.397C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594073" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "XR_001745583.1:n.397C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS594074" }, { "@id": "http://reg.genome.network/allele/PA2828502838", "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "NM_001374321.1:c.311C>A" ], "proteinEffect": { "hgvs": "NP_001361250.1:p.Ser104Ter", "hgvsWellDefined": "NP_001361250.1:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693228" }, { "@id": "http://reg.genome.network/allele/PA2829413908", "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "NM_003114.5:c.311C>A" ], "proteinEffect": { "hgvs": "NP_003105.2:p.Ser104Ter", "hgvsWellDefined": "NP_003105.2:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695733", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000388798.7:c.311C>A" }, "RefSeq": { "hgvs": "NM_003114.5:c.311C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000373450.3:p.Ser104Ter" }, "RefSeq": { "hgvs": "NP_003105.2:p.Ser104Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA658664800", "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN011212", "geneNCBI_id": 6674, "geneSymbol": "SPAG1", "hgvs": [ "NM_172218.3:c.311C>A" ], "proteinEffect": { "hgvs": "NP_757367.1:p.Ser104Ter", "hgvsWellDefined": "NP_757367.1:p.Ser104_Leu926delinsGluIleLysLysGluGluAspLysMetHisPheHisGluThrGluThrPheProAlaMetLysAspAsnLeuProProValArgGlySerAsnSerCysLeuHisValGlyLysGluLysTyrSerLysArgProThrLysLysLysThrProArgAspTyrAlaGluTrpAspLysPheAspValGluLysGluCysLeuLysIleAspGluAspTyrLysGluLysThrValIleAspLysSerHisLeuSerLysIleGluThrArgIleAspThrAlaGlyLeuThrGluLysGluLysAspPheLeuAlaThrArgGluLysGluLysGlyAsnGluAlaPheAsnSerGlyAspTyrGluGluAlaValMetTyrTyrThrArgSerIleSerAlaLeuProThrValValAlaTyrAsnAsnArgAlaGlnAlaGluIleLysLeuGlnAsnTrpAsnSerAlaPheGlnAspCysGluLysValLeuGluLeuGluProGlyAsnValLysAlaLeuLeuArgArgAlaThrThrTyrLysHisGlnAsnLysLeuArgGluAlaThrGluAspLeuSerLysValLeuAspValGluProAspAsnAspLeuAlaLysLysThrLeuSerGluValGluArgAspLeuLysAsnSerGluAlaAlaSerGluThrGlnThrLysGlyLysArgMetValIleGlnGluIleGluAsnSerGluAspGluGluGlyLysSerGlyArgLysHisGluAspGlyGlyGlyAspLysLysProAlaGluProAlaGlyAlaAlaArgAlaAlaGlnProCysValMetGlyAsnIleGlnLysLysLeuThrGlyLysAlaGluGlyGlyLysArgProAlaArgGlyAlaProGlnArgGlyGlnThrProGluAlaGlyAlaAspLysArgSerProArgArgAlaSerAlaAlaAlaAlaAlaGlyGlyGlyAlaThrGlyHisProGlyGlyGlyGlnGlyAlaGluAsnProAlaGlyLeuLysSerGlnGlyAsnGluLeuPheArgSerGlyGlnPheAlaGluAlaAlaGlyLysTyrSerAlaAlaIleAlaLeuLeuGluProAlaGlySerGluIleAlaAspAspLeuSerIleLeuTyrSerAsnArgAlaAlaCysTyrLeuLysGluGlyAsnCysSerGlyCysIleGlnAspCysAsnArgAlaLeuGluLeuHisProPheSerMetLysProLeuLeuArgArgAlaMetAlaTyrGluThrLeuGluGlnTyrGlyLysAlaTyrValAspTyrLysThrValLeuGlnIleAspCysGlyLeuGlnLeuAlaAsnAspSerValAsnArgLeuSerArgIleLeuMetGluLeuAspGlyProAsnTrpArgGluLysLeuSerProIleProAlaValProAlaSerValProLeuGlnAlaTrpHisProAlaLysGluMetIleSerLysGlnAlaGlyAspSerSerSerHisArgGlnGlnGlyIleThrAspGluLysThrPheLysAlaLeuLysGluGluGlyAsnGlnCysValAsnAspLysAsnTyrLysAspAlaLeuSerLysTyrSerGluCysLeuLysIleAsnAsnLysGluCysAlaIleTyrThrAsnArgAlaLeuCysTyrLeuLysLeuCysGlnPheGluGluAlaLysGlnAspCysAspGlnAlaLeuGlnLeuAlaAspGlyAsnValLysAlaPheTyrArgArgAlaLeuAlaHisLysGlyLeuLysAsnTyrGlnLysSerLeuIleAspLeuAsnLysValIleLeuLeuAspProSerIleIleGluAlaLysMetGluLeuGluGluValThrArgLeuLeuAsnLeuLysAspLysThrAlaProPheAsnLysGluLysGluArgArgLysIleGluIleGlnGluValAsnGluGlyLysGluGluProGlyArgProAlaGlyGluValSerMetGlyCysLeuAlaSerGluLysGlyGlyLysSerSerArgSerProGluAspProGluLysLeuProIleAlaLysProAsnAsnAlaTyrGluPheGlyGlnIleIleAsnAlaLeuSerThrArgLysAspLysGluAlaCysAlaHisLeuLeuAlaIleThrAlaProLysAspLeuProMetPheLeuSerAsnLysLeuGluGlyAspThrPheLeuLeuLeuIleGlnSerLeuLysAsnAsnLeuIleGluLysAspProSerLeuValTyrGlnHisLeuLeuTyrLeuSerLysAlaGluArgPheLysMetMetLeuThrLeuIleSerLysGlyGlnLysGluLeuIleGluGlnLeuPheGluAspLeuSerAspThrProAsnAsnHisPheThrLeuGluAspIleGlnAlaLeuLysArgGlnTyrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700505" } ], "type": "nucleotide" }