{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA201058", "communityStandardTitle": [ "NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106454[alleleid]", "alleleId": 106454, "preferredName": "NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100577", "RCV": [ "RCV000086959", "RCV000504778", "RCV002288584" ], "variationId": 100577 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-16002140-G-T", "id": "4-16002140-G-T", "variant": "4:16002140 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.16002140G>T?assembly=hg19", "id": "chr4:g.16002140G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.16000517G>T?assembly=hg38", "id": "chr4:g.16000517G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137853907", "rs": 137853907 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-16002140-G-T?dataset=gnomad_r2_1", "id": "4-16002140-G-T", "variant": "4:16002140 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-16000517-G-T?dataset=gnomad_r3", "id": "4-16000517-G-T", "variant": "4:16000517 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-16000517-G-T?dataset=gnomad_r4", "id": "4-16000517-G-T", "variant": "4:16000517 G / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 16000517, "referenceAllele": "G", "start": 16000516 } ], "hgvs": [ "NC_000004.12:g.16000517G>T", "CM000666.2:g.16000517G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 16002140, "referenceAllele": "G", "start": 16002139 } ], "hgvs": [ "NC_000004.11:g.16002140G>T", "CM000666.1:g.16002140G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 15611238, "referenceAllele": "G", "start": 15611237 } ], "hgvs": [ "NC_000004.10:g.15611238G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 88484, "referenceAllele": "C", "start": 88483 } ], "hgvs": [ "NG_011696.1:g.88484C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001905" }, { "coordinates": [ { "allele": "A", "end": 88543, "referenceAllele": "C", "start": 88542 } ], "hgvs": [ "NG_011696.2:g.88543C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706103" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000447510.7:c.1557C>A" ], "proteinEffect": { "hgvs": "ENSP00000415481.2:p.Tyr519Ter", "hgvsWellDefined": "ENSP00000415481.2:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756130", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447510.7:c.1557C>A" }, "RefSeq": { "hgvs": "NM_006017.3:c.1557C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415481.2:p.Tyr519Ter" }, "RefSeq": { "hgvs": "NP_006008.1:p.Tyr519Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1726, "referenceAllele": "C", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000513946.2:c.*1240C>A" ], "proteinEffect": { "hgvs": "ENSP00000424738.2:n.*1240C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS758341" }, { "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "C", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000539194.6:c.1557C>A" ], "proteinEffect": { "hgvs": "ENSP00000443620.1:p.Tyr519Ter", "hgvsWellDefined": "ENSP00000443620.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759588" }, { "coordinates": [ { "allele": "A", "end": 1530, "referenceAllele": "C", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000540805.6:c.1530C>A" ], "proteinEffect": { "hgvs": "ENSP00000438045.2:p.Tyr510Ter", "hgvsWellDefined": "ENSP00000438045.2:p.Tyr510_His833delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759647" }, { "coordinates": [ { "allele": "A", "end": 1557, "referenceAllele": "C", "start": 1556 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000675377.1:c.1557C>A" ], "proteinEffect": { "hgvs": "ENSP00000502545.1:p.Tyr519Ter", "hgvsWellDefined": "ENSP00000502545.1:p.Tyr519_His842delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775207" }, { "coordinates": [ { "allele": "A", "end": 1530, "referenceAllele": "C", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000675613.1:c.1530C>A" ], "proteinEffect": { "hgvs": "ENSP00000501741.1:p.Tyr510Ter", "hgvsWellDefined": "ENSP00000501741.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775406" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000447510.6:c.1557C>A" ], "proteinEffect": { "hgvs": "ENSP00000415481.2:p.Tyr519Ter", "hgvsWellDefined": "ENSP00000415481.2:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299274" }, { "coordinates": [ { "allele": "A", "end": 2143, "referenceAllele": "C", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000505450.5:c.1530C>A" ], "proteinEffect": { "hgvs": "ENSP00000426090.1:p.Tyr510Ter", "hgvsWellDefined": "ENSP00000426090.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS337238" }, { "coordinates": [ { "allele": "A", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000508167.5:c.1530C>A" ], "proteinEffect": { "hgvs": "ENSP00000427346.1:p.Tyr510Ter", "hgvsWellDefined": "ENSP00000427346.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS339259" }, { "coordinates": [ { "allele": "A", "end": 1806, "referenceAllele": "C", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000510224.5:c.1557C>A" ], "proteinEffect": { "hgvs": "ENSP00000426809.1:p.Tyr519Ter", "hgvsWellDefined": "ENSP00000426809.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS340795" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000539194.5:c.1557C>A" ], "proteinEffect": { "hgvs": "ENSP00000443620.1:p.Tyr519Ter", "hgvsWellDefined": "ENSP00000443620.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361722" }, { "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "ENST00000540805.5:c.1557C>A" ], "proteinEffect": { "hgvs": "ENSP00000438045.1:p.Tyr519Ter", "hgvsWellDefined": "ENSP00000438045.1:p.Tyr519_His842delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362601" }, { "@id": "http://reg.genome.network/allele/PA2825911941", "coordinates": [ { "allele": "A", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145847.1:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139319.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139319.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013785" }, { "@id": "http://reg.genome.network/allele/PA2825913685", "coordinates": [ { "allele": "A", "end": 1765, "referenceAllele": "C", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145848.1:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139320.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139320.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013786" }, { "@id": "http://reg.genome.network/allele/PA2825915114", "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145849.1:c.1557C>A" ], "proteinEffect": { "hgvs": "NP_001139321.1:p.Tyr519Ter", "hgvsWellDefined": "NP_001139321.1:p.Tyr519_His842delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013787" }, { "@id": "http://reg.genome.network/allele/PA2825916738", "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145850.1:c.1557C>A" ], "proteinEffect": { "hgvs": "NP_001139322.1:p.Tyr519Ter", "hgvsWellDefined": "NP_001139322.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013788" }, { "@id": "http://reg.genome.network/allele/PA2825917795", "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145851.1:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139323.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139323.1:p.Tyr510_His833delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013789" }, { "@id": "http://reg.genome.network/allele/PA2825918863", "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145852.1:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139324.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139324.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013790" }, { "@id": "http://reg.genome.network/allele/PA201059", "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_006017.2:c.1557C>A" ], "proteinEffect": { "hgvs": "NP_006008.1:p.Tyr519Ter", "hgvsWellDefined": "NP_006008.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031062" }, { "coordinates": [ { "allele": "A", "end": 1865, "referenceAllele": "C", "start": 1864 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248195.3:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_005248252.1:p.Tyr510Ter", "hgvsWellDefined": "XP_005248252.1:p.Tyr510_His833delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058345" }, { "coordinates": [ { "allele": "A", "end": 1865, "referenceAllele": "C", "start": 1864 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248196.3:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_005248253.1:p.Tyr510Ter", "hgvsWellDefined": "XP_005248253.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058346" }, { "coordinates": [ { "allele": "A", "end": 1338, "referenceAllele": "C", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_006713974.2:c.1323C>A" ], "proteinEffect": { "hgvs": "XP_006714037.1:p.Tyr441Ter", "hgvsWellDefined": "XP_006714037.1:p.Tyr441_His787delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070439" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513890.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512192.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512192.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081121" }, { "coordinates": [ { "allele": "A", "end": 2142, "referenceAllele": "C", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513891.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512193.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512193.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081122" }, { "coordinates": [ { "allele": "A", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513892.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512194.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512194.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081123" }, { "coordinates": [ { "allele": "A", "end": 2076, "referenceAllele": "C", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513893.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512195.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512195.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081124" }, { "coordinates": [ { "allele": "A", "end": 2167, "referenceAllele": "C", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513894.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512196.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512196.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081125" }, { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513895.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512197.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512197.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081126" }, { "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513896.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512198.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512198.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081127" }, { "coordinates": [ { "allele": "A", "end": 2099, "referenceAllele": "C", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513897.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512199.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512199.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081128" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513898.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512200.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512200.1:p.Tyr519_Phe852delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspSerSerTrpValThrSerValGlnValAsnPhePhePheLeuValLeuIlePheLeuTyrLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081129" }, { "coordinates": [ { "allele": "A", "end": 1865, "referenceAllele": "C", "start": 1864 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513899.1:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_011512201.1:p.Tyr510Ter", "hgvsWellDefined": "XP_011512201.1:p.Tyr510_Phe843delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspSerSerTrpValThrSerValGlnValAsnPhePhePheLeuValLeuIlePheLeuTyrLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081130" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513900.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512202.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512202.1:p.Tyr519_His842delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081131" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513901.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512203.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512203.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081132" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513902.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512204.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512204.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081133" }, { "coordinates": [ { "allele": "A", "end": 1365, "referenceAllele": "C", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513903.1:c.1350C>A" ], "proteinEffect": { "hgvs": "XP_011512205.1:p.Tyr450Ter", "hgvsWellDefined": "XP_011512205.1:p.Tyr450_His796delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081134" }, { "coordinates": [ { "allele": "A", "end": 1299, "referenceAllele": "C", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513904.1:c.1284C>A" ], "proteinEffect": { "hgvs": "XP_011512206.1:p.Tyr428Ter", "hgvsWellDefined": "XP_011512206.1:p.Tyr428_His774delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081135" }, { "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248195.5:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_005248252.1:p.Tyr510Ter", "hgvsWellDefined": "XP_005248252.1:p.Tyr510_His833delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533016" }, { "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_005248196.5:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_005248253.1:p.Tyr510Ter", "hgvsWellDefined": "XP_005248253.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533017" }, { "coordinates": [ { "allele": "A", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_006713974.3:c.1323C>A" ], "proteinEffect": { "hgvs": "XP_006714037.1:p.Tyr441Ter", "hgvsWellDefined": "XP_006714037.1:p.Tyr441_His787delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538623" }, { "coordinates": [ { "allele": "A", "end": 2002, "referenceAllele": "C", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513892.2:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512194.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512194.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543078" }, { "coordinates": [ { "allele": "A", "end": 2076, "referenceAllele": "C", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513893.2:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512195.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512195.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543079" }, { "coordinates": [ { "allele": "A", "end": 2003, "referenceAllele": "C", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513894.3:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512196.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512196.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543080" }, { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513895.2:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512197.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512197.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543081" }, { "coordinates": [ { "allele": "A", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513896.2:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512198.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512198.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543082" }, { "coordinates": [ { "allele": "A", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513897.3:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512199.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512199.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543083" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513900.2:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512202.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512202.1:p.Tyr519_His842delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543084" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513902.2:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_011512204.1:p.Tyr519Ter", "hgvsWellDefined": "XP_011512204.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543085" }, { "coordinates": [ { "allele": "A", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_011513903.2:c.1350C>A" ], "proteinEffect": { "hgvs": "XP_011512205.1:p.Tyr450Ter", "hgvsWellDefined": "XP_011512205.1:p.Tyr450_His796delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543086" }, { "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008799.1:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_016864288.1:p.Tyr510Ter", "hgvsWellDefined": "XP_016864288.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563249" }, { "coordinates": [ { "allele": "A", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008800.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_016864289.1:p.Tyr519Ter", "hgvsWellDefined": "XP_016864289.1:p.Tyr519_Leu841delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspSerSerLeuSerGlyThrTrpHisPheThrLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563250" }, { "coordinates": [ { "allele": "A", "end": 1943, "referenceAllele": "C", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008802.1:c.1557C>A" ], "proteinEffect": { "hgvs": "XP_016864291.1:p.Tyr519Ter", "hgvsWellDefined": "XP_016864291.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563251" }, { "coordinates": [ { "allele": "A", "end": 1840, "referenceAllele": "C", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008803.1:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_016864292.1:p.Tyr510Ter", "hgvsWellDefined": "XP_016864292.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563252" }, { "coordinates": [ { "allele": "A", "end": 1910, "referenceAllele": "C", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008804.1:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_016864293.1:p.Tyr510Ter", "hgvsWellDefined": "XP_016864293.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563253" }, { "coordinates": [ { "allele": "A", "end": 1783, "referenceAllele": "C", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_017008805.1:c.1530C>A" ], "proteinEffect": { "hgvs": "XP_016864294.1:p.Tyr510Ter", "hgvsWellDefined": "XP_016864294.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563254" }, { "coordinates": [ { "allele": "A", "end": 1745, "referenceAllele": "C", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "XM_024454276.1:c.1284C>A" ], "proteinEffect": { "hgvs": "XP_024310044.1:p.Tyr428Ter", "hgvsWellDefined": "XP_024310044.1:p.Tyr428_His774delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587644" }, { "@id": "http://reg.genome.network/allele/PA2825911941", "coordinates": [ { "allele": "A", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145847.2:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139319.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139319.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677946" }, { "@id": "http://reg.genome.network/allele/PA2825913685", "coordinates": [ { "allele": "A", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145848.2:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139320.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139320.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677947" }, { "@id": "http://reg.genome.network/allele/PA2825915114", "coordinates": [ { "allele": "A", "end": 1769, "referenceAllele": "C", "start": 1768 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145849.2:c.1557C>A" ], "proteinEffect": { "hgvs": "NP_001139321.1:p.Tyr519Ter", "hgvsWellDefined": "NP_001139321.1:p.Tyr519_His842delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677948" }, { "@id": "http://reg.genome.network/allele/PA2825916738", "coordinates": [ { "allele": "A", "end": 1806, "referenceAllele": "C", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145850.2:c.1557C>A" ], "proteinEffect": { "hgvs": "NP_001139322.1:p.Tyr519Ter", "hgvsWellDefined": "NP_001139322.1:p.Tyr519_His834delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677949" }, { "@id": "http://reg.genome.network/allele/PA2825917795", "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145851.2:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139323.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139323.1:p.Tyr510_His833delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677950" }, { "@id": "http://reg.genome.network/allele/PA2825918863", "coordinates": [ { "allele": "A", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001145852.2:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001139324.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001139324.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677951" }, { "@id": "http://reg.genome.network/allele/PA2828484727", "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "C", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371406.1:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001358335.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001358335.1:p.Tyr510_His856delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692886" }, { "@id": "http://reg.genome.network/allele/PA2828485346", "coordinates": [ { "allele": "A", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371407.1:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001358336.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001358336.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692887" }, { "@id": "http://reg.genome.network/allele/PA2828485939", "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "C", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_001371408.1:c.1530C>A" ], "proteinEffect": { "hgvs": "NP_001358337.1:p.Tyr510Ter", "hgvsWellDefined": "NP_001358337.1:p.Tyr510_His825delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692888" }, { "@id": "http://reg.genome.network/allele/PA201059", "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN009454", "geneNCBI_id": 8842, "geneSymbol": "PROM1", "hgvs": [ "NM_006017.3:c.1557C>A" ], "proteinEffect": { "hgvs": "NP_006008.1:p.Tyr519Ter", "hgvsWellDefined": "NP_006008.1:p.Tyr519_His865delinsThrSerLysGluLeuPheArgValLeuAspThrProTyrLeuLeuAsnGluAspTrpGluTyrTyrLeuSerGlyLysLeuPheAsnLysSerLysMetLysLeuThrPheGluGlnValTyrSerAspCysLysLysAsnArgGlyThrTyrGlyThrLeuHisLeuGlnAsnSerPheAsnIleSerGluHisLeuAsnIleAsnGluHisThrGlySerIleSerSerGluLeuGluSerLeuLysValAsnLeuAsnIlePheLeuLeuGlyAlaAlaGlyArgLysAsnLeuGlnAspPheAlaAlaCysGlyIleAspArgMetAsnTyrAspSerTyrLeuAlaGlnThrGlyLysSerProAlaGlyValAsnLeuLeuSerPheAlaTyrAspLeuGluAlaLysAlaAsnSerLeuProProGlyAsnLeuArgAsnSerLeuLysArgAspAlaGlnThrIleLysThrIleHisGlnGlnArgValLeuProIleGluGlnSerLeuSerThrLeuTyrGlnSerValLysIleLeuGlnArgThrGlyAsnGlyLeuLeuGluArgValThrArgIleLeuAlaSerLeuAspPheAlaGlnAsnPheIleThrAsnAsnThrSerSerValIleIleGluGluThrLysLysTyrGlyArgThrIleIleGlyTyrPheGluHisTyrLeuGlnTrpIleGluPheSerIleSerGluLysValAlaSerCysLysProValAlaThrAlaLeuAspThrAlaValAspValPheLeuCysSerTyrIleIleAspProLeuAsnLeuPheTrpPheGlyIleGlyLysAlaThrValPheLeuLeuProAlaLeuIlePheAlaValLysLeuAlaLysTyrTyrArgArgMetAspSerGluAspValTyrAspAspValGluThrIleProMetLysAsnMetGluAsnGlyAsnAsnGlyTyrHisLysAspHisValTyrGlyIleHisAsnProValMetThrSerProSerGlnHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696586", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447510.7:c.1557C>A" }, "RefSeq": { "hgvs": "NM_006017.3:c.1557C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415481.2:p.Tyr519Ter" }, "RefSeq": { "hgvs": "NP_006008.1:p.Tyr519Ter" } } } } ], "type": "nucleotide" }