{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA235914", "communityStandardTitle": [ "NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188856[alleleid]", "alleleId": 188856, "preferredName": "NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191050", "RCV": [ "RCV000171226", "RCV001003226", "RCV001257831", "RCV001852064" ], "variationId": 191050 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-88883104-T-A", "id": "14-88883104-T-A", "variant": "14:88883104 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88883104T>A?assembly=hg19", "id": "chr14:g.88883104T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88416760T>A?assembly=hg38", "id": "chr14:g.88416760T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767745816", "rs": 767745816 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-88883104-T-A?dataset=gnomad_r2_1", "id": "14-88883104-T-A", "variant": "14:88883104 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-88416760-T-A?dataset=gnomad_r3", "id": "14-88416760-T-A", "variant": "14:88416760 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-88416760-T-A?dataset=gnomad_r4", "id": "14-88416760-T-A", "variant": "14:88416760 T / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 88416760, "referenceAllele": "T", "start": 88416759 } ], "hgvs": [ "NC_000014.9:g.88416760T>A", "CM000676.2:g.88416760T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 88883104, "referenceAllele": "T", "start": 88883103 } ], "hgvs": [ 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"ENSP00000348991.5:p.Cys64_Val567delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263808" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "T", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000393545.8:c.288T>A" ], "proteinEffect": { "hgvs": "ENSP00000377176.4:p.Cys96Ter", "hgvsWellDefined": "ENSP00000377176.4:p.Cys96_Val599delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275683" }, { "coordinates": [ { "allele": "A", "end": 416, "referenceAllele": "T", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000553626.5:n.416T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS370008" }, { "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "T", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000553885.5:c.246T>A" ], "proteinEffect": { "hgvs": "ENSP00000450606.1:p.Cys82Ter", "hgvsWellDefined": "ENSP00000450606.1:p.Cys82_Pro228del" }, "referenceSequence": "http://reg.genome.network/refseq/RS370207" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "T", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000553908.5:c.*163T>A" ], "proteinEffect": { "hgvs": "ENSP00000452546.1:n.*163T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS370228" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000554168.5:c.*245T>A" ], "proteinEffect": { "hgvs": "ENSP00000451663.1:n.*245T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS370426" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "T", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555356.5:c.*304T>A" ], "proteinEffect": { "hgvs": "ENSP00000450654.1:n.*304T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS371371" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "T", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555401.5:c.117T>A" ], "proteinEffect": { "hgvs": "ENSP00000452435.1:p.Cys39Ter", "hgvsWellDefined": "ENSP00000452435.1:p.Cys39_Gly139del" }, "referenceSequence": "http://reg.genome.network/refseq/RS371406" }, { "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "T", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555515.5:c.*163T>A" ], "proteinEffect": { "hgvs": "ENSP00000450882.1:n.*163T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS371493" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000555534.5:c.*92T>A" ], "proteinEffect": { "hgvs": "ENSP00000450515.1:n.*92T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS371509" }, { "coordinates": [ { "allele": "A", "end": 751, "referenceAllele": "T", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "ENST00000556553.5:c.192T>A" ], "proteinEffect": { "hgvs": "ENSP00000451128.1:p.Cys64Ter", "hgvsWellDefined": 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"ENSP00000451690.1:n.*8T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS372867" }, { "@id": "http://reg.genome.network/allele/PA2825363379", "coordinates": [ { "allele": "A", "end": 367, "referenceAllele": "T", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_001040428.3:c.192T>A" ], "proteinEffect": { "hgvs": "NP_001035518.1:p.Cys64Ter", "hgvsWellDefined": "NP_001035518.1:p.Cys64_Val567delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009573" }, { "@id": "http://reg.genome.network/allele/PA235915", "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_018418.4:c.288T>A" ], "proteinEffect": { "hgvs": "NP_060888.2:p.Cys96Ter", "hgvsWellDefined": "NP_060888.2:p.Cys96_Val599delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035728" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "T", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267851.1:c.288T>A" ], "proteinEffect": { "hgvs": "XP_005267908.1:p.Cys96Ter", "hgvsWellDefined": "XP_005267908.1:p.Cys96_Val600delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065529" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "T", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267852.1:c.192T>A" ], "proteinEffect": { "hgvs": "XP_005267909.1:p.Cys64Ter", "hgvsWellDefined": "XP_005267909.1:p.Cys64_Val568delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065530" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "T", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267854.1:c.96T>A" ], "proteinEffect": { "hgvs": "XP_005267911.1:p.Cys32Ter", "hgvsWellDefined": "XP_005267911.1:p.Cys32_Val536delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065531" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "T", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267855.1:c.96T>A" ], "proteinEffect": { "hgvs": "XP_005267912.1:p.Cys32Ter", "hgvsWellDefined": "XP_005267912.1:p.Cys32_Val536delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065532" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "T", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_006720204.1:c.288T>A" ], "proteinEffect": { "hgvs": "XP_006720267.1:p.Cys96Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS073549" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "T", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_006720205.1:c.288T>A" ], "proteinEffect": { "hgvs": "XP_006720268.1:p.Cys96Ter", "hgvsWellDefined": "XP_006720268.1:p.Cys96_Asp434delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValArgIleProAspAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073550" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "T", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_011536951.1:c.135T>A" ], "proteinEffect": { "hgvs": "XP_011535253.1:p.Cys45Ter", "hgvsWellDefined": "XP_011535253.1:p.Cys45_Val549delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103922" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "T", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_011536952.1:c.117T>A" ], "proteinEffect": { "hgvs": "XP_011535254.1:p.Cys39Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS103923" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_011536953.1:c.-31T>A" ], "proteinEffect": { "hgvs": "XP_011535255.1:n.-31T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS103924" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "T", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_005267852.2:c.192T>A" ], "proteinEffect": { "hgvs": "XP_005267909.1:p.Cys64Ter", "hgvsWellDefined": "XP_005267909.1:p.Cys64_Val568delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536472" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "T", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021452.1:c.135T>A" ], "proteinEffect": { "hgvs": "XP_016876941.1:p.Cys45Ter", "hgvsWellDefined": "XP_016876941.1:p.Cys45_Val548delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572658" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "T", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021453.1:c.96T>A" ], "proteinEffect": { "hgvs": "XP_016876942.1:p.Cys32Ter", "hgvsWellDefined": "XP_016876942.1:p.Cys32_Val536delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnValAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572659" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "T", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021454.1:c.96T>A" ], "proteinEffect": { "hgvs": "XP_016876943.1:p.Cys32Ter", "hgvsWellDefined": "XP_016876943.1:p.Cys32_Val535delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572660" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "T", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021455.1:c.96T>A" ], "proteinEffect": { "hgvs": "XP_016876944.1:p.Cys32Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS572661" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "T", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021456.1:c.96T>A" ], "proteinEffect": { "hgvs": "XP_016876945.1:p.Cys32Ter", "hgvsWellDefined": "XP_016876945.1:p.Cys32_Val535delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572662" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_017021457.1:c.-31T>A" ], "proteinEffect": { "hgvs": "XP_016876946.1:n.-31T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS572663" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "T", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XM_024449660.1:c.117T>A" ], "proteinEffect": { "hgvs": "XP_024305428.1:p.Cys39Ter", "hgvsWellDefined": "XP_024305428.1:p.Cys39_Val542delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583207" }, { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "T", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "XR_002957563.1:n.359T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603697" }, { "@id": "http://reg.genome.network/allele/PA235915", "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "T", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_018418.5:c.288T>A" ], "proteinEffect": { "hgvs": "NP_060888.2:p.Cys96Ter", "hgvsWellDefined": "NP_060888.2:p.Cys96_Val599delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669662", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393545.9:c.288T>A" }, "RefSeq": { "hgvs": "NM_018418.5:c.288T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377176.4:p.Cys96Ter" }, "RefSeq": { "hgvs": "NP_060888.2:p.Cys96Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825363379", "coordinates": [ { "allele": "A", "end": 354, "referenceAllele": "T", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN020423", "geneNCBI_id": 55812, "geneSymbol": "SPATA7", "hgvs": [ "NM_001040428.4:c.192T>A" ], "proteinEffect": { "hgvs": "NP_001035518.1:p.Cys64Ter", "hgvsWellDefined": "NP_001035518.1:p.Cys64_Val567delinsGluLysGluPheLysLeuThrLysThrAlaMetArgAlaAsnTyrLysAsnAsnSerLysSerLeuPheAsnThrLeuGlnLysProSerGlyGluProGlnIleGluAspAspMetLeuLysGluGluMetAsnGlyPheSerSerPheAlaArgSerLeuValProSerSerGluArgLeuHisLeuSerLeuHisLysSerSerLysValIleThrAsnGlyProGluLysAsnSerSerSerSerProSerSerValAspTyrAlaAlaSerGlyProArgLysLeuSerSerGlyAlaLeuTyrGlyArgArgProArgSerThrPheProAsnSerHisArgPheGlnLeuValIleSerLysAlaProSerGlyAspLeuLeuAspLysHisSerGluLeuPheSerAsnLysGlnLeuProPheThrProArgThrLeuLysThrGluAlaLysSerPheLeuSerGlnTyrArgTyrTyrThrProAlaLysArgLysLysAspPheThrAspGlnArgIleGluAlaGluThrGlnThrGluLeuSerPheLysSerGluLeuGlyThrAlaGluThrLysAsnMetThrAspSerGluMetAsnIleLysGlnAlaSerAsnCysValThrTyrAspAlaLysGluLysIleAlaProLeuProLeuGluGlyHisAspSerThrTrpAspGluIleLysAspAspAlaLeuGlnHisSerSerProArgAlaMetCysGlnTyrSerLeuLysProProSerThrArgLysIleTyrSerAspGluGluGluLeuLeuTyrLeuSerPheIleGluAspValThrAspGluIleLeuLysLeuGlyLeuPheSerAsnArgPheLeuGluArgLeuPheGluArgHisIleLysGlnAsnLysHisLeuGluGluGluLysMetArgHisLeuLeuHisValLeuLysValAspLeuGlyCysThrSerGluGluAsnSerValLysGlnAsnAspValAspMetLeuAsnValPheAspPheGluLysAlaGlyAsnSerGluProAsnGluLeuLysAsnGluSerGluValThrIleGlnGlnGluArgGlnGlnTyrGlnLysAlaLeuAspMetLeuLeuSerAlaProLysAspGluAsnGluIlePheProSerProThrGluPhePheMetProIleTyrLysSerLysHisSerGluGlyValIleIleGlnGlnValAsnAspGluThrAsnLeuGluThrSerThrLeuAspGluAsnHisProSerIleSerAspSerLeuThrAspArgGluThrSerValAsnValIleGluGlyAspSerAspProGluLysValGluIleSerAsnGlyLeuCysGlyLeuAsnThrSerProSerGlnSerValGlnPheSerSerValLysGlyAspAsnAsnHisAspMetGluLeuSerThrLeuLysIleMetGluMetSerIleGluAspCysProLeuAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711647" } ], "type": "nucleotide" }