{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA361635759", "communityStandardTitle": [ "NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443699[alleleid]", "alleleId": 443699, "preferredName": "NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449101", "RCV": [ "RCV000520665", "RCV001380051", "RCV003596010" ], "variationId": 449101 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.147478834C>T?assembly=hg19", "id": "chr5:g.147478834C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.148099271C>T?assembly=hg38", "id": "chr5:g.148099271C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/373463881", "rs": 373463881 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-147478834-C-T?dataset=gnomad_r2_1", "id": "5-147478834-C-T", "variant": "5:147478834 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-148099271-C-T?dataset=gnomad_r3", "id": "5-148099271-C-T", "variant": "5:148099271 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-148099271-C-T?dataset=gnomad_r4", "id": "5-148099271-C-T", "variant": "5:148099271 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 148099271, "referenceAllele": "C", "start": 148099270 } ], "hgvs": [ "NC_000005.10:g.148099271C>T", "CM000667.2:g.148099271C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 147478834, "referenceAllele": "C", "start": 147478833 } ], "hgvs": [ "NC_000005.9:g.147478834C>T", "CM000667.1:g.147478834C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 147459027, "referenceAllele": "C", "start": 147459026 } ], "hgvs": [ "NC_000005.8:g.147459027C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 40300, "referenceAllele": "C", "start": 40299 } ], "hgvs": [ "NG_009633.1:g.40300C>T", "LRG_110:g.40300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001623" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000481286.6:n.657C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905281" }, { "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "C", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000256084.8:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000256084.7:p.Arg350Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS741747", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256084.8:c.1048C>T" }, "RefSeq": { "hgvs": "NM_006846.4:c.1048C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256084.7:p.Arg350Ter" }, "RefSeq": { "hgvs": "NP_006837.2:p.Arg350Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1090, "referenceAllele": "C", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000256084.7:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000256084.7:p.Arg350Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS264935" }, { "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000398454.5:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000381472.1:p.Arg350Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS278270" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000476608.1:n.564C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317618" }, { "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000507988.5:n.1212C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS339126" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000508733.5:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000421519.1:p.Arg331Ter", "hgvsWellDefined": 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"NP_001121170.1:p.Arg350_Glu1094delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011680" }, { "@id": "http://reg.genome.network/allele/PA2825655195", "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127699.1:c.1048C>T" ], "proteinEffect": { "hgvs": "NP_001121171.1:p.Arg350Ter", "hgvsWellDefined": "NP_001121171.1:p.Arg350_Tyr916delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011681" }, { "@id": "http://reg.genome.network/allele/PA658660229", "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_006846.3:c.1048C>T", "LRG_110t1:c.1048C>T" ], "proteinEffect": { "hgvs": "NP_006837.2:p.Arg350Ter", "hgvsWellDefined": "NP_006837.2:p.Arg350_Glu1064delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031827" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537550.1:c.991C>T" ], "proteinEffect": { "hgvs": "XP_011535852.1:p.Arg331Ter", "hgvsWellDefined": "XP_011535852.1:p.Arg331_Glu1075delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104514" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537551.1:c.964C>T" ], "proteinEffect": { "hgvs": "XP_011535853.1:p.Arg322Ter", "hgvsWellDefined": "XP_011535853.1:p.Arg322_Glu1066delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104515" }, { "coordinates": [ { "allele": "T", "end": 1207, "referenceAllele": "C", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537551.2:c.964C>T" ], "proteinEffect": { "hgvs": "XP_011535853.1:p.Arg322Ter", "hgvsWellDefined": "XP_011535853.1:p.Arg322_Glu1066delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552929" }, { "@id": "http://reg.genome.network/allele/PA2825654704", "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "C", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127698.2:c.1048C>T" ], "proteinEffect": { "hgvs": "NP_001121170.1:p.Arg350Ter", "hgvsWellDefined": "NP_001121170.1:p.Arg350_Glu1094delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676932" }, { "@id": "http://reg.genome.network/allele/PA2825655195", "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "C", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127699.2:c.1048C>T" ], "proteinEffect": { "hgvs": "NP_001121171.1:p.Arg350Ter", "hgvsWellDefined": "NP_001121171.1:p.Arg350_Tyr916delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676933" }, { "@id": "http://reg.genome.network/allele/PA658660229", "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "C", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_006846.4:c.1048C>T" ], "proteinEffect": { "hgvs": "NP_006837.2:p.Arg350Ter", "hgvsWellDefined": "NP_006837.2:p.Arg350_Glu1064delinsAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256084.8:c.1048C>T" }, "RefSeq": { "hgvs": "NM_006846.4:c.1048C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256084.7:p.Arg350Ter" }, "RefSeq": { "hgvs": "NP_006837.2:p.Arg350Ter" } } } } ], "type": "nucleotide" }