{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10586321", "communityStandardTitle": [ "NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247774[alleleid]", "alleleId": 247774, "preferredName": "NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253326", "RCV": [ "RCV000240342", "RCV001390399", "RCV002247690", "RCV002267733" ], "variationId": 253326 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.16010716A>T?assembly=hg19", "id": "chr4:g.16010716A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.16009093A>T?assembly=hg38", "id": "chr4:g.16009093A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886037880", "rs": 886037880 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-16009093-A-T?dataset=gnomad_r3", "id": "4-16009093-A-T", "variant": "4:16009093 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-16009093-A-T?dataset=gnomad_r4", "id": "4-16009093-A-T", "variant": "4:16009093 A / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 16009093, "referenceAllele": "A", "start": 16009092 } ], "hgvs": [ "NC_000004.12:g.16009093A>T", "CM000666.2:g.16009093A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 16010716, "referenceAllele": "A", "start": 16010715 } ], "hgvs": [ "NC_000004.11:g.16010716A>T", "CM000666.1:g.16010716A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15619814, "referenceAllele": "A", "start": 15619813 } ], "hgvs": [ "NC_000004.10:g.15619814A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 79908, "referenceAllele": "T", "start": 79907 } ], "hgvs": [ "NG_011696.1:g.79908T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001905" }, { "coordinates": [ { "allele": "A", "end": 79967, "referenceAllele": "T", "start": 79966 } ], "hgvs": [ "NG_011696.2:g.79967T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706103" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "T", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000447510.7:c.1157T>A" ], "proteinEffect": { "hgvs": "ENSP00000415481.2:p.Leu386Ter", "hgvsWellDefined": "ENSP00000415481.2:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756130", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447510.7:c.1157T>A" }, "RefSeq": { "hgvs": "NM_006017.3:c.1157T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415481.2:p.Leu386Ter" }, "RefSeq": { "hgvs": "NP_006008.1:p.Leu386Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1326, "referenceAllele": "T", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000513946.2:c.*840T>A" ], "proteinEffect": { "hgvs": "ENSP00000424738.2:n.*840T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS758341" }, { "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "T", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000539194.6:c.1157T>A" ], "proteinEffect": { "hgvs": "ENSP00000443620.1:p.Leu386Ter", "hgvsWellDefined": "ENSP00000443620.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759588" }, { "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "T", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000540805.6:c.1130T>A" ], "proteinEffect": { "hgvs": "ENSP00000438045.2:p.Leu377Ter", "hgvsWellDefined": "ENSP00000438045.2:p.Leu377_His833delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759647" }, { "coordinates": [ { "allele": "A", "end": 1157, "referenceAllele": "T", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000675377.1:c.1157T>A" ], "proteinEffect": { "hgvs": "ENSP00000502545.1:p.Leu386Ter", "hgvsWellDefined": "ENSP00000502545.1:p.Leu386_His842delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775207" }, { "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "T", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000675613.1:c.1130T>A" ], "proteinEffect": { "hgvs": "ENSP00000501741.1:p.Leu377Ter", "hgvsWellDefined": "ENSP00000501741.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775406" }, { "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000447510.6:c.1157T>A" ], "proteinEffect": { "hgvs": "ENSP00000415481.2:p.Leu386Ter", "hgvsWellDefined": "ENSP00000415481.2:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299274" }, { "coordinates": [ { "allele": "A", "end": 1743, "referenceAllele": "T", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000505450.5:c.1130T>A" ], "proteinEffect": { "hgvs": "ENSP00000426090.1:p.Leu377Ter", "hgvsWellDefined": "ENSP00000426090.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS337238" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "T", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000508167.5:c.1130T>A" ], "proteinEffect": { "hgvs": "ENSP00000427346.1:p.Leu377Ter", "hgvsWellDefined": "ENSP00000427346.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339259" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "T", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000510224.5:c.1157T>A" ], "proteinEffect": { "hgvs": "ENSP00000426809.1:p.Leu386Ter", "hgvsWellDefined": "ENSP00000426809.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340795" }, { "coordinates": [ { "allele": "A", "end": 1215, "referenceAllele": "T", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000511153.5:c.1215T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341486" }, { "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000539194.5:c.1157T>A" ], "proteinEffect": { "hgvs": "ENSP00000443620.1:p.Leu386Ter", "hgvsWellDefined": "ENSP00000443620.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361722" }, { "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000540805.5:c.1157T>A" ], "proteinEffect": { "hgvs": "ENSP00000438045.1:p.Leu386Ter", "hgvsWellDefined": "ENSP00000438045.1:p.Leu386_His842delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362601" }, { "@id": "http://reg.genome.network/allele/PA2825911682", "coordinates": [ { "allele": "A", "end": 1649, "referenceAllele": "T", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145847.1:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139319.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139319.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013785" }, { "@id": "http://reg.genome.network/allele/PA2825913404", "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "T", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145848.1:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139320.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139320.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013786" }, { "@id": "http://reg.genome.network/allele/PA2825914806", "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145849.1:c.1157T>A" ], "proteinEffect": { "hgvs": "NP_001139321.1:p.Leu386Ter", "hgvsWellDefined": "NP_001139321.1:p.Leu386_His842delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013787" }, { "@id": "http://reg.genome.network/allele/PA2825916450", "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145850.1:c.1157T>A" ], "proteinEffect": { "hgvs": "NP_001139322.1:p.Leu386Ter", "hgvsWellDefined": "NP_001139322.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013788" }, { "@id": "http://reg.genome.network/allele/PA2825917608", "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "T", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145851.1:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139323.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139323.1:p.Leu377_His833delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013789" }, { "@id": "http://reg.genome.network/allele/PA2825918673", "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "T", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145852.1:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139324.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139324.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013790" }, { "@id": "http://reg.genome.network/allele/PA645395623", "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_006017.2:c.1157T>A" ], "proteinEffect": { "hgvs": "NP_006008.1:p.Leu386Ter", "hgvsWellDefined": "NP_006008.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031062" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "T", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248195.3:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_005248252.1:p.Leu377Ter", "hgvsWellDefined": "XP_005248252.1:p.Leu377_His833delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058345" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "T", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248196.3:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_005248253.1:p.Leu377Ter", "hgvsWellDefined": "XP_005248253.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058346" }, { "coordinates": [ { "allele": "A", "end": 938, "referenceAllele": "T", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_006713974.2:c.923T>A" ], "proteinEffect": { "hgvs": "XP_006714037.1:p.Leu308Ter", "hgvsWellDefined": "XP_006714037.1:p.Leu308_His787delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070439" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513890.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512192.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512192.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081121" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "T", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513891.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512193.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512193.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081122" }, { "coordinates": [ { "allele": "A", "end": 1466, "referenceAllele": "T", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513892.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512194.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512194.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081123" }, { "coordinates": [ { "allele": "A", "end": 1676, "referenceAllele": "T", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513893.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512195.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512195.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081124" }, { "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "T", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513894.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512196.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512196.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081125" }, { "coordinates": [ { "allele": "A", "end": 1877, "referenceAllele": "T", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513895.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512197.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512197.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081126" }, { "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "T", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513896.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512198.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512198.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081127" }, { "coordinates": [ { "allele": "A", "end": 1699, "referenceAllele": "T", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513897.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512199.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512199.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081128" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513898.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512200.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512200.1:p.Leu386_Phe852delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspSerSerTrpValThrSerValGlnValAsnPhePhePheLeuValLeuIlePheLeuTyrLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081129" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "T", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513899.1:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_011512201.1:p.Leu377Ter", "hgvsWellDefined": "XP_011512201.1:p.Leu377_Phe843delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspSerSerTrpValThrSerValGlnValAsnPhePhePheLeuValLeuIlePheLeuTyrLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081130" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513900.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512202.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512202.1:p.Leu386_His842delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081131" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513901.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512203.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512203.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081132" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513902.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512204.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512204.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081133" }, { "coordinates": [ { "allele": "A", "end": 965, "referenceAllele": "T", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513903.1:c.950T>A" ], "proteinEffect": { "hgvs": "XP_011512205.1:p.Leu317Ter", "hgvsWellDefined": "XP_011512205.1:p.Leu317_His796delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081134" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "T", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513904.1:c.884T>A" ], "proteinEffect": { "hgvs": "XP_011512206.1:p.Leu295Ter", "hgvsWellDefined": "XP_011512206.1:p.Leu295_His774delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081135" }, { "coordinates": [ { "allele": "A", "end": 1401, "referenceAllele": "T", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248195.5:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_005248252.1:p.Leu377Ter", "hgvsWellDefined": "XP_005248252.1:p.Leu377_His833delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533016" }, { "coordinates": [ { "allele": "A", "end": 1401, "referenceAllele": "T", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248196.5:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_005248253.1:p.Leu377Ter", "hgvsWellDefined": "XP_005248253.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533017" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_006713974.3:c.923T>A" ], "proteinEffect": { "hgvs": "XP_006714037.1:p.Leu308Ter", "hgvsWellDefined": "XP_006714037.1:p.Leu308_His787delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538623" }, { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "T", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513892.2:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512194.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512194.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543078" }, { "coordinates": [ { "allele": "A", "end": 1676, "referenceAllele": "T", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513893.2:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512195.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512195.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543079" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "T", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513894.3:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512196.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512196.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543080" }, { "coordinates": [ { "allele": "A", "end": 1877, "referenceAllele": "T", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513895.2:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512197.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512197.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543081" }, { "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "T", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513896.2:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512198.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512198.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543082" }, { "coordinates": [ { "allele": "A", "end": 1694, "referenceAllele": "T", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513897.3:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512199.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512199.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543083" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513900.2:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512202.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512202.1:p.Leu386_His842delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543084" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513902.2:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_011512204.1:p.Leu386Ter", "hgvsWellDefined": "XP_011512204.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543085" }, { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "T", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513903.2:c.950T>A" ], "proteinEffect": { "hgvs": "XP_011512205.1:p.Leu317Ter", "hgvsWellDefined": "XP_011512205.1:p.Leu317_His796delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543086" }, { "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "T", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008799.1:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_016864288.1:p.Leu377Ter", "hgvsWellDefined": "XP_016864288.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563249" }, { "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "T", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008800.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_016864289.1:p.Leu386Ter", "hgvsWellDefined": "XP_016864289.1:p.Leu386_Leu841delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspSerSerLeuSerGlyThrTrpHisPheThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563250" }, { "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "T", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008802.1:c.1157T>A" ], "proteinEffect": { "hgvs": "XP_016864291.1:p.Leu386Ter", "hgvsWellDefined": "XP_016864291.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563251" }, { "coordinates": [ { "allele": "A", "end": 1440, "referenceAllele": "T", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008803.1:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_016864292.1:p.Leu377Ter", "hgvsWellDefined": "XP_016864292.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563252" }, { "coordinates": [ { "allele": "A", "end": 1510, "referenceAllele": "T", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008804.1:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_016864293.1:p.Leu377Ter", "hgvsWellDefined": "XP_016864293.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563253" }, { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "T", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008805.1:c.1130T>A" ], "proteinEffect": { "hgvs": "XP_016864294.1:p.Leu377Ter", "hgvsWellDefined": "XP_016864294.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563254" }, { "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "T", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_024454276.1:c.884T>A" ], "proteinEffect": { "hgvs": "XP_024310044.1:p.Leu295Ter", "hgvsWellDefined": "XP_024310044.1:p.Leu295_His774delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587644" }, { "@id": "http://reg.genome.network/allele/PA2825911682", "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "T", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145847.2:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139319.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139319.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677946" }, { "@id": "http://reg.genome.network/allele/PA2825913404", "coordinates": [ { "allele": "A", "end": 1388, "referenceAllele": "T", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145848.2:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139320.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139320.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677947" }, { "@id": "http://reg.genome.network/allele/PA2825914806", "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145849.2:c.1157T>A" ], "proteinEffect": { "hgvs": "NP_001139321.1:p.Leu386Ter", "hgvsWellDefined": "NP_001139321.1:p.Leu386_His842delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677948" }, { "@id": "http://reg.genome.network/allele/PA2825916450", "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "T", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145850.2:c.1157T>A" ], "proteinEffect": { "hgvs": "NP_001139322.1:p.Leu386Ter", "hgvsWellDefined": "NP_001139322.1:p.Leu386_His834delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677949" }, { "@id": "http://reg.genome.network/allele/PA2825917608", "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "T", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145851.2:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139323.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139323.1:p.Leu377_His833delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677950" }, { "@id": "http://reg.genome.network/allele/PA2825918673", "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "T", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145852.2:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001139324.1:p.Leu377Ter", "hgvsWellDefined": "NP_001139324.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677951" }, { "@id": "http://reg.genome.network/allele/PA2828484629", "coordinates": [ { "allele": "A", "end": 1379, "referenceAllele": "T", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371406.1:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001358335.1:p.Leu377Ter", "hgvsWellDefined": "NP_001358335.1:p.Leu377_His856delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692886" }, { "@id": "http://reg.genome.network/allele/PA2828485249", "coordinates": [ { "allele": "A", "end": 1447, "referenceAllele": "T", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371407.1:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001358336.1:p.Leu377Ter", "hgvsWellDefined": "NP_001358336.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692887" }, { "@id": "http://reg.genome.network/allele/PA2828485842", "coordinates": [ { "allele": "A", "end": 1379, "referenceAllele": "T", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371408.1:c.1130T>A" ], "proteinEffect": { "hgvs": "NP_001358337.1:p.Leu377Ter", "hgvsWellDefined": "NP_001358337.1:p.Leu377_His825delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692888" }, { "@id": "http://reg.genome.network/allele/PA645395623", "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "T", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_006017.3:c.1157T>A" ], "proteinEffect": { "hgvs": "NP_006008.1:p.Leu386Ter", "hgvsWellDefined": "NP_006008.1:p.Leu386_His865delinsAsnSerIleGlySerAspIleAspAsnValThrGlnArgLeuProIleGlnAspIleLeuSerAlaPheSerValTyrValAsnAsnThrGluSerTyrIleHisArgAsnLeuProThrLeuGluGluTyrAspSerTyrTrpTrpLeuGlyGlyLeuValIleCysSerLeuLeuThrLeuIleValIlePheTyrTyrLeuGlyLeuLeuCysGlyValCysGlyTyrAspArgHisAlaThrProThrThrArgGlyCysValSerAsnThrGlyGlyValPheLeuMetValGlyValGlyLeuSerPheLeuPheCysTrpIleLeuMetIleIleValValLeuThrPheValPheGlyAlaAsnValGluLysLeuIleCysGluProTyrThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696586", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447510.7:c.1157T>A" }, "RefSeq": { "hgvs": "NM_006017.3:c.1157T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415481.2:p.Leu386Ter" }, "RefSeq": { "hgvs": "NP_006008.1:p.Leu386Ter" } } } } ], "type": "nucleotide" }