{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3495297", "communityStandardTitle": [ "NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514503[alleleid]", "alleleId": 514503, "preferredName": "NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523773", "RCV": [ "RCV000627212", "RCV003596076" ], "variationId": 523773 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-147470774-C-T", "id": "5-147470774-C-T", "variant": "5:147470774 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.147470774C>T?assembly=hg19", "id": "chr5:g.147470774C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.148091211C>T?assembly=hg38", "id": "chr5:g.148091211C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/367958902", "rs": 367958902 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-147470774-C-T?dataset=gnomad_r2_1", "id": "5-147470774-C-T", "variant": "5:147470774 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-148091211-C-T?dataset=gnomad_r3", "id": "5-148091211-C-T", "variant": "5:148091211 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-148091211-C-T?dataset=gnomad_r4", "id": "5-148091211-C-T", "variant": "5:148091211 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 148091211, "referenceAllele": "C", "start": 148091210 } ], "hgvs": [ "NC_000005.10:g.148091211C>T", "CM000667.2:g.148091211C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 147470774, "referenceAllele": "C", "start": 147470773 } ], "hgvs": [ "NC_000005.9:g.147470774C>T", "CM000667.1:g.147470774C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 147450967, "referenceAllele": "C", "start": 147450966 } ], "hgvs": [ "NC_000005.8:g.147450967C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 32240, "referenceAllele": "C", "start": 32239 } ], "hgvs": [ "NG_009633.1:g.32240C>T", "LRG_110:g.32240C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001623" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000481286.6:n.258C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905281" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "C", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000698105.1:n.519C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909161" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000256084.8:c.649C>T" ], "proteinEffect": { "hgvs": "ENSP00000256084.7:p.Arg217Ter", "hgvsWellDefined": "ENSP00000256084.7:p.Arg218_Glu1064delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741747", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256084.8:c.649C>T" }, "RefSeq": { "hgvs": "NM_006846.4:c.649C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256084.7:p.Arg217Ter" }, "RefSeq": { "hgvs": "NP_006837.2:p.Arg217Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "C", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000256084.7:c.649C>T" ], "proteinEffect": { "hgvs": "ENSP00000256084.7:p.Arg217Ter", "hgvsWellDefined": "ENSP00000256084.7:p.Arg218_Glu1064delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250143" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000359874.7:c.649C>T" ], "proteinEffect": { "hgvs": "ENSP00000352936.3:p.Arg217Ter", "hgvsWellDefined": "ENSP00000352936.3:p.Arg218_Glu1094delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264935" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000398454.5:c.649C>T" ], "proteinEffect": { "hgvs": "ENSP00000381472.1:p.Arg217Ter", "hgvsWellDefined": "ENSP00000381472.1:p.Arg218_Tyr916delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278270" }, { "coordinates": [ { "allele": "T", "end": 165, "referenceAllele": "C", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000476608.1:n.165C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317618" }, { "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000476697.7:c.*174C>T" ], "proteinEffect": { "hgvs": "ENSP00000427943.1:n.*174C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317685" }, { "coordinates": [ { "allele": "T", "end": 95, "referenceAllele": "C", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000481286.5:n.95C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321241" }, { "coordinates": [ { "allele": "T", "end": 813, "referenceAllele": "C", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000507988.5:n.813C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS339126" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "ENST00000508733.5:c.592C>T" ], "proteinEffect": { "hgvs": "ENSP00000421519.1:p.Arg198Ter", "hgvsWellDefined": "ENSP00000421519.1:p.Arg198Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS339685" }, { "@id": "http://reg.genome.network/allele/PA2825654644", "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127698.1:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001121170.1:p.Arg217Ter", "hgvsWellDefined": "NP_001121170.1:p.Arg218_Glu1094delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011680" }, { "@id": "http://reg.genome.network/allele/PA2825655136", "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127699.1:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001121171.1:p.Arg217Ter", "hgvsWellDefined": "NP_001121171.1:p.Arg218_Tyr916delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011681" }, { "@id": "http://reg.genome.network/allele/PA658818082", "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_006846.3:c.649C>T", "LRG_110t1:c.649C>T" ], "proteinEffect": { "hgvs": "NP_006837.2:p.Arg217Ter", "hgvsWellDefined": "NP_006837.2:p.Arg218_Glu1064delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031827" }, { "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537550.1:c.592C>T" ], "proteinEffect": { "hgvs": "XP_011535852.1:p.Arg198Ter", "hgvsWellDefined": "XP_011535852.1:p.Arg199_Glu1075delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104514" }, { "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537551.1:c.565C>T" ], "proteinEffect": { "hgvs": "XP_011535853.1:p.Arg189Ter", "hgvsWellDefined": "XP_011535853.1:p.Arg190_Glu1066delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104515" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "XM_011537551.2:c.565C>T" ], "proteinEffect": { "hgvs": "XP_011535853.1:p.Arg189Ter", "hgvsWellDefined": "XP_011535853.1:p.Arg190_Glu1066delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552929" }, { "@id": "http://reg.genome.network/allele/PA2825654644", "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127698.2:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001121170.1:p.Arg217Ter", "hgvsWellDefined": "NP_001121170.1:p.Arg218_Glu1094delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGlnCysArgGlnValGlnAsnGluAlaGluAspAlaLysPheArgGlnProGlyArgSerLeuAlaSerValAlaArgMetSerThrAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676932" }, { "@id": "http://reg.genome.network/allele/PA2825655136", "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_001127699.2:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001121171.1:p.Arg217Ter", "hgvsWellDefined": "NP_001121171.1:p.Arg218_Tyr916delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676933" }, { "@id": "http://reg.genome.network/allele/PA658818082", "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN015464", "geneNCBI_id": 11005, "geneSymbol": "SPINK5", "hgvs": [ "NM_006846.4:c.649C>T" ], "proteinEffect": { "hgvs": "NP_006837.2:p.Arg217Ter", "hgvsWellDefined": "NP_006837.2:p.Arg218_Glu1064delinsAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysAspGluCysSerGluPheArgAsnTyrIleArgAsnAsnGluLeuIleCysProArgGluAsnAspProValHisGlyAlaAspGlyLysPheTyrThrAsnLysCysTyrMetCysArgAlaValPheLeuThrGluAlaLeuGluArgAlaLysLeuGlnGluLysProSerHisValArgAlaSerGlnGluGluAspSerProAspSerPheSerSerLeuAspSerGluMetCysLysAspTyrArgValLeuProArgIleGlyTyrLeuCysProLysAspLeuLysProValCysGlyAspAspGlyGlnThrTyrAsnAsnProCysMetLeuCysHisGluAsnLeuIleArgGlnThrAsnThrHisIleArgSerThrGlyLysCysGluGluSerSerThrProGlyThrThrAlaAlaSerMetProProSerAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256084.8:c.649C>T" }, "RefSeq": { "hgvs": "NM_006846.4:c.649C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256084.7:p.Arg217Ter" }, "RefSeq": { "hgvs": "NP_006837.2:p.Arg217Ter" } } } } ], "type": "nucleotide" }