{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16618029", "communityStandardTitle": [ "NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406392[alleleid]", "alleleId": 406392, "preferredName": "NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420960", "RCV": [ "RCV000482774", "RCV000778717", "RCV003972812" ], "variationId": 420960 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.121738060T>A?assembly=hg19", "id": "chr4:g.121738060T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.120816905T>A?assembly=hg38", "id": "chr4:g.120816905T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794819", "rs": 1064794819 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-120816905-T-A?dataset=gnomad_r3", "id": "4-120816905-T-A", "variant": "4:120816905 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-120816905-T-A?dataset=gnomad_r4", "id": "4-120816905-T-A", "variant": "4:120816905 T / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 120816905, "referenceAllele": "T", "start": 120816904 } ], "hgvs": [ "NC_000004.12:g.120816905T>A", "CM000666.2:g.120816905T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 121738060, "referenceAllele": "T", "start": 121738059 } ], "hgvs": [ "NC_000004.11:g.121738060T>A", "CM000666.1:g.121738060T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 121957510, "referenceAllele": "T", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS251593" }, { "coordinates": [ { "allele": "T", "end": 900, "endIntronDirection": "-", "endIntronOffset": 330, "referenceAllele": "A", "start": 900, "startIntronDirection": "-", "startIntronOffset": 331 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "ENST00000428209.6:c.651-331A>T" ], "proteinEffect": { "hgvs": "ENSP00000404832.2:n.651-331A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS290083" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "ENST00000502409.1:c.201A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334983" }, { "coordinates": [ { "allele": "T", "end": 743, "referenceAllele": "A", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, 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"http://reg.genome.network/allele/PA645432669", "coordinates": [ { "allele": "T", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "NM_018699.3:c.670A>T" ], "proteinEffect": { "hgvs": "NP_061169.2:p.Lys224Ter", "hgvsWellDefined": "NP_061169.2:p.Lys224_Ser630delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035867" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_005262708.2:c.670A>T" ], "proteinEffect": { "hgvs": "XP_005262765.1:p.Lys224Ter", "hgvsWellDefined": "XP_005262765.1:p.Lys224_Leu346delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063533" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531562.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529864.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529864.1:p.Lys224_Ser641delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098597" }, { "coordinates": [ { "allele": "T", "end": 891, "endIntronDirection": "-", "endIntronOffset": 330, "referenceAllele": "A", "start": 891, "startIntronDirection": "-", "startIntronOffset": 331 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531563.1:c.651-331A>T" ], "proteinEffect": { "hgvs": "XP_011529865.1:n.651-331A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS098598" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531564.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529866.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529866.1:p.Lys224_Ser606delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098599" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531565.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529867.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529867.1:p.Lys224_Phe589delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098600" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531566.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529868.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529868.1:p.Lys224_His589delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098601" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531567.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529869.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529869.1:p.Lys224_Gly543delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098602" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531568.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529870.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529870.1:p.Lys224_Gly543delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098603" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531569.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529871.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529871.1:p.Lys224_Gly543delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098604" }, { "coordinates": [ { "allele": "T", "end": 678, "endIntronDirection": "+", "endIntronOffset": 1448, "referenceAllele": "A", "start": 678, "startIntronDirection": "+", "startIntronOffset": 1447 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531570.1:c.151+1448A>T" ], "proteinEffect": { "hgvs": "XP_011529872.1:n.151+1448A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS098605" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XR_938677.1:n.911A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133375" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XR_938678.1:n.911A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133376" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XR_938679.1:n.911A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133377" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XR_938680.1:n.911A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS133378" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_005262708.3:c.670A>T" ], "proteinEffect": { "hgvs": "XP_005262765.1:p.Lys224Ter", "hgvsWellDefined": "XP_005262765.1:p.Lys224_Leu346delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535532" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531562.2:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529864.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529864.1:p.Lys224_Ser641delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550435" }, { "coordinates": [ { "allele": "T", "end": 891, "endIntronDirection": "-", "endIntronOffset": 330, "referenceAllele": "A", "start": 891, "startIntronDirection": "-", "startIntronOffset": 331 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531563.2:c.651-331A>T" ], "proteinEffect": { "hgvs": "XP_011529865.1:n.651-331A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550436" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531564.2:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529866.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529866.1:p.Lys224_Ser606delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550437" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531565.2:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529867.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529867.1:p.Lys224_Phe589delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspTyrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550438" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531566.3:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529868.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529868.1:p.Lys224_His589delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550439" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531567.2:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529869.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529869.1:p.Lys224_Gly543delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550440" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531568.2:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529870.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529870.1:p.Lys224_Gly543delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550441" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531569.3:c.670A>T" ], "proteinEffect": { "hgvs": "XP_011529871.1:p.Lys224Ter", "hgvsWellDefined": "XP_011529871.1:p.Lys224_Gly543delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550442" }, { "coordinates": [ { "allele": "T", "end": 740, "endIntronDirection": "+", "endIntronOffset": 1448, "referenceAllele": "A", "start": 740, "startIntronDirection": "+", "startIntronOffset": 1447 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_011531570.3:c.151+1448A>T" ], "proteinEffect": { "hgvs": "XP_011529872.1:n.151+1448A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS550443" }, { "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "A", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_017007668.2:c.592A>T" ], "proteinEffect": { "hgvs": "XP_016863157.1:p.Lys198Ter", "hgvsWellDefined": "XP_016863157.1:p.Lys198_Ser615delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562355" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_017007669.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_016863158.1:p.Lys224Ter", "hgvsWellDefined": "XP_016863158.1:p.Lys224_Gly532delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562356" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_017007670.1:c.670A>T" ], "proteinEffect": { "hgvs": "XP_016863159.1:p.Lys224Ter", "hgvsWellDefined": "XP_016863159.1:p.Lys224_Gly532delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluAlaValGlnValLeuArgValGlnGlnGlyLeuGlnProGluAlaArgProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562357" }, { "coordinates": [ { "allele": "T", "end": 768, "endIntronDirection": "+", "endIntronOffset": 1448, "referenceAllele": "A", "start": 768, "startIntronDirection": "+", "startIntronOffset": 1447 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XM_024453879.1:c.151+1448A>T" ], "proteinEffect": { "hgvs": "XP_024309647.1:n.151+1448A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS587251" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XR_938677.3:n.911A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612012" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "XR_938680.2:n.911A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS612013" }, { "coordinates": [ { "allele": "T", "end": 768, "endIntronDirection": "-", "endIntronOffset": 330, "referenceAllele": "A", "start": 768, "startIntronDirection": "-", "startIntronOffset": 331 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "NM_001300823.2:c.651-331A>T" ], "proteinEffect": { "hgvs": "NP_001287752.1:n.651-331A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS716889" }, { "coordinates": [ { "allele": "T", "end": 768, "endIntronDirection": "-", "endIntronOffset": 330, "referenceAllele": "A", "start": 768, "startIntronDirection": "-", "startIntronOffset": 331 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "NM_001300824.2:c.651-331A>T" ], "proteinEffect": { "hgvs": "NP_001287753.1:n.651-331A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS716890" }, { "@id": "http://reg.genome.network/allele/PA2828808064", "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "A", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "NM_001379104.1:c.670A>T" ], "proteinEffect": { "hgvs": "NP_001366033.1:p.Lys224Ter", "hgvsWellDefined": "NP_001366033.1:p.Lys224_Ser641delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerAspMetArgLeuSerProLeuIlePheLeuIleGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721906" }, { "coordinates": [ { "allele": "T", "end": 768, "endIntronDirection": "-", "endIntronOffset": 330, "referenceAllele": "A", "start": 768, "startIntronDirection": "-", "startIntronOffset": 331 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "NM_001379106.1:c.651-331A>T" ], "proteinEffect": { "hgvs": "NP_001366035.1:n.651-331A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS721907" }, { "@id": "http://reg.genome.network/allele/PA645432669", "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "A", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN009349", "geneNCBI_id": 11107, "geneSymbol": "PRDM5", "hgvs": [ "NM_018699.4:c.670A>T" ], "proteinEffect": { "hgvs": "NP_061169.2:p.Lys224Ter", "hgvsWellDefined": "NP_061169.2:p.Lys224_Ser630delinsSerSerLeuLysGluSerSerArgSerPheGlnCysSerValCysAsnSerSerPheSerSerAlaSerSerPheGluGlnHisGlnGluThrCysArgGlyAspAlaArgPheValCysLysAlaAspSerCysGlyLysArgLeuLysSerLysAspAlaLeuLysArgHisGlnGluAsnValHisThrGlyAspProLysLysLysLeuIleCysSerValCysAsnLysLysCysSerSerAlaSerSerLeuGlnGluHisArgLysIleHisGluIlePheAspCysGlnGluCysMetLysLysPheIleSerAlaAsnGlnLeuLysArgHisMetIleThrHisSerGluLysArgProTyrAsnCysGluIleCysAsnLysSerPheLysArgLeuAspGlnValGlyAlaHisLysValIleHisSerGluAspLysProTyrLysCysLysLeuCysGlyLysGlyPheAlaHisArgAsnValTyrLysAsnHisLysLysThrHisSerGluGluArgProPheGlnCysGluGluCysLysAlaLeuPheArgThrProPheSerLeuGlnArgHisLeuLeuIleHisAsnSerGluArgThrPheLysCysHisHisCysAspAlaThrPheLysArgLysAspThrLeuAsnValHisValGlnValValHisGluArgHisLysLysTyrArgCysGluLeuCysAsnLysAlaPheValThrProSerValLeuArgSerHisLysLysThrHisThrGlyGluLysGluLysIleCysProTyrCysGlyGlnLysPheAlaSerSerGlyThrLeuArgValHisIleArgSerHisThrGlyGluArgProTyrGlnCysProTyrCysGluLysGlyPheSerLysAsnAspGlyLeuLysMetHisIleArgThrHisThrArgGluLysProTyrLysCysSerGluCysSerLysAlaPheSerGlnLysArgGlyLeuAspGluHisLysArgThrHisThrGlyGluLysProPheGlnCysAspValCysAspLeuAlaPheSerLeuLysLysMetLeuIleArgHisLysMetThrHisAsnProAsnArgProLeuAlaGluCysGlnPheCysHisLysLysPheThrArgAsnAspTyrLeuLysValHisMetAspAsnIleHisGlyValAlaAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264808.8:c.670A>T" }, "RefSeq": { "hgvs": "NM_018699.4:c.670A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264808.3:p.Lys224Ter" }, "RefSeq": { "hgvs": "NP_061169.2:p.Lys224Ter" } } } } ], "type": "nucleotide" }