{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA128916087", "communityStandardTitle": [ "NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=944443[alleleid]", "alleleId": 944443, "preferredName": "NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/956463", "RCV": [ "RCV001229273", "RCV003595718" ], "variationId": 956463 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.147477547C>T?assembly=hg19", "id": "chr5:g.147477547C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.148097984C>T?assembly=hg38", "id": "chr5:g.148097984C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/924297783", "rs": 924297783 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-148097984-C-T?dataset=gnomad_r4", "id": "5-148097984-C-T", "variant": "5:148097984 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 148097984, "referenceAllele": "C", "start": 148097983 } ], "hgvs": [ "NC_000005.10:g.148097984C>T", "CM000667.2:g.148097984C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 147477547, "referenceAllele": "C", "start": 147477546 } ], "hgvs": [ "NC_000005.9:g.147477547C>T", "CM000667.1:g.147477547C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 147457740, "referenceAllele": "C", "start": 147457739 } ], "hgvs": [ "NC_000005.8:g.147457740C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 39013, "referenceAllele": "C", "start": 39012 } ], "hgvs": [ "NG_009633.1:g.39013C>T", "LRG_110:g.39013C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001623" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000481286.6:n.609C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905281" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000698105.1:n.870C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909161" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000256084.8:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000256084.7:p.Gln334Ter", "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.1000C>T" }, "RefSeq": { "hgvs": "NM_006846.4:c.1000C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256084.7:p.Gln334Ter" }, "RefSeq": { "hgvs": "NP_006837.2:p.Gln334Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000256084.7:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000256084.7:p.Gln334Ter", "hgvsWellDefined": "ENSP00000256084.7:p.Gln334_Glu1064delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250143" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000359874.7:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000352936.3:p.Gln334Ter", "hgvsWellDefined": "ENSP00000352936.3:p.Gln334_Glu1094delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264935" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000398454.5:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000381472.1:p.Gln334Ter", "hgvsWellDefined": "ENSP00000381472.1:p.Gln334_Tyr916delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278270" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000476608.1:n.516C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317618" }, { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "C", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000481286.5:n.446C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321241" }, { "coordinates": [ { "allele": "T", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000507988.5:n.1164C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS339126" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000508733.5:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000421519.1:p.Gln315Ter", "hgvsWellDefined": "ENSP00000421519.1:p.Gln315Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS339685" }, { "@id": "http://reg.genome.network/allele/PA2825654695", "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127698.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001121170.1:p.Gln334Ter", "hgvsWellDefined": "NP_001121170.1:p.Gln334_Glu1094delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011680" }, { "@id": "http://reg.genome.network/allele/PA2825655187", "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127699.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001121171.1:p.Gln334Ter", "hgvsWellDefined": "NP_001121171.1:p.Gln334_Tyr916delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011681" }, { "@id": "http://reg.genome.network/allele/PA1139710593", "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_006846.3:c.1000C>T", "LRG_110t1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_006837.2:p.Gln334Ter", "hgvsWellDefined": "NP_006837.2:p.Gln334_Glu1064delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031827" }, { "coordinates": [ { "allele": "T", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537550.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_011535852.1:p.Gln315Ter", "hgvsWellDefined": "XP_011535852.1:p.Gln315_Glu1075delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104514" }, { "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537551.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011535853.1:p.Gln306Ter", "hgvsWellDefined": "XP_011535853.1:p.Gln306_Glu1066delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104515" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537551.2:c.916C>T" ], "proteinEffect": { "hgvs": "XP_011535853.1:p.Gln306Ter", "hgvsWellDefined": "XP_011535853.1:p.Gln306_Glu1066delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552929" }, { "@id": "http://reg.genome.network/allele/PA2825654695", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127698.2:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001121170.1:p.Gln334Ter", "hgvsWellDefined": "NP_001121170.1:p.Gln334_Glu1094delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676932" }, { "@id": "http://reg.genome.network/allele/PA2825655187", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127699.2:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001121171.1:p.Gln334Ter", "hgvsWellDefined": "NP_001121171.1:p.Gln334_Tyr916delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676933" }, { "@id": "http://reg.genome.network/allele/PA1139710593", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_006846.4:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_006837.2:p.Gln334Ter", "hgvsWellDefined": "NP_006837.2:p.Gln334_Glu1064delinsAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256084.8:c.1000C>T" }, "RefSeq": { "hgvs": "NM_006846.4:c.1000C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256084.7:p.Gln334Ter" }, "RefSeq": { "hgvs": "NP_006837.2:p.Gln334Ter" } } } } ], "type": "nucleotide" }