{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372481186", "communityStandardTitle": [ "NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101878[alleleid]", "alleleId": 3101878, "preferredName": "NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2945998", "RCV": [ "RCV003806284" ], "variationId": 2945998 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.144991472C>A?assembly=hg19", "id": "chr8:g.144991472C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143917304C>A?assembly=hg38", "id": "chr8:g.143917304C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/868975952", "rs": 868975952 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 143917304, "referenceAllele": "C", "start": 143917303 } ], "hgvs": [ "NC_000008.11:g.143917304C>A", "CM000670.2:g.143917304C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 144991472, "referenceAllele": "C", "start": 144991471 } ], "hgvs": [ "NC_000008.10:g.144991472C>A", "CM000670.1:g.144991472C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 145063460, "referenceAllele": "C", "start": 145063459 } ], "hgvs": [ "NC_000008.9:g.145063460C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 64442, "referenceAllele": "G", "start": 64441 } ], "hgvs": [ "NG_012492.1:g.64442G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002420" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 12655, "referenceAllele": "G", "start": 12654 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000528025.6:c.12649G>T" ], "proteinEffect": { "hgvs": "ENSP00000437303.2:p.Glu4217Ter", "hgvsWellDefined": "ENSP00000437303.2:p.Glu4217_Ala4591delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825747" }, { "coordinates": [ { "allele": "T", "end": 12610, "referenceAllele": "G", "start": 12609 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000685198.1:c.12568G>T" ], "proteinEffect": { "hgvs": "ENSP00000510528.1:p.Glu4190Ter", "hgvsWellDefined": "ENSP00000510528.1:p.Glu4190_Ala4564delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829937" }, { "coordinates": [ { "allele": "T", "end": 12568, "referenceAllele": "G", "start": 12567 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000687971.1:c.12235G>T" ], "proteinEffect": { "hgvs": "ENSP00000510788.1:p.Glu4079Ter", "hgvsWellDefined": "ENSP00000510788.1:p.Glu4079_Ala4453delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831361" }, { "coordinates": [ { "allele": "T", "end": 12461, "referenceAllele": "G", "start": 12460 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000693060.1:c.12448G>T" ], "proteinEffect": { "hgvs": "ENSP00000510329.1:p.Glu4150Ter", "hgvsWellDefined": "ENSP00000510329.1:p.Glu4150_Ala4524delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834042" }, { "coordinates": [ { "allele": "T", "end": 12653, "referenceAllele": "G", "start": 12652 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.8:c.12517G>T" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Glu4173Ter", "hgvsWellDefined": "ENSP00000344848.3:p.Glu4173_Ala4547delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748278", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.12517G>T" }, "RefSeq": { "hgvs": "NM_201384.3:c.12517G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Glu4173Ter" }, "RefSeq": { "hgvs": "NP_958786.1:p.Glu4173Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 9255, "referenceAllele": "G", "start": 9254 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.2:c.9217G>T" ], "proteinEffect": { "hgvs": "ENSP00000433982.2:p.Glu3073Ter", "hgvsWellDefined": "ENSP00000433982.2:p.Glu3073_Ala3447delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759013" }, { "coordinates": [ { "allele": "T", "end": 13098, "referenceAllele": "G", "start": 13097 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000322810.8:c.12928G>T" ], "proteinEffect": { "hgvs": "ENSP00000323856.4:p.Glu4310Ter", "hgvsWellDefined": "ENSP00000323856.4:p.Glu4310_Ala4684delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258128" }, { "coordinates": [ { "allele": "T", "end": 12646, "referenceAllele": "G", "start": 12645 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.7:c.12517G>T" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Glu4173Ter", "hgvsWellDefined": "ENSP00000344848.3:p.Glu4173_Ala4547delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262142" }, { "coordinates": [ { "allele": "T", "end": 12585, "referenceAllele": "G", "start": 12584 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354589.7:c.12517G>T" ], "proteinEffect": { "hgvs": "ENSP00000346602.3:p.Glu4173Ter", "hgvsWellDefined": "ENSP00000346602.3:p.Glu4173_Ala4547delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263177" }, { "coordinates": [ { "allele": "T", "end": 12600, "referenceAllele": "G", "start": 12599 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354958.6:c.12451G>T" ], "proteinEffect": { "hgvs": "ENSP00000347044.2:p.Glu4151Ter", "hgvsWellDefined": "ENSP00000347044.2:p.Glu4151_Ala4525delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263292" }, { "coordinates": [ { "allele": "T", "end": 12532, "referenceAllele": "G", "start": 12531 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000356346.7:c.12475G>T" ], "proteinEffect": { "hgvs": "ENSP00000348702.3:p.Glu4159Ter", "hgvsWellDefined": "ENSP00000348702.3:p.Glu4159_Ala4533delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.12475G>T" }, "RefSeq": { "hgvs": "NM_201378.4:c.12475G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Glu4159Ter" }, "RefSeq": { "hgvs": "NP_958780.1:p.Glu4159Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 12538, "referenceAllele": "G", "start": 12537 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000357649.6:c.12529G>T" ], "proteinEffect": { "hgvs": "ENSP00000350277.2:p.Glu4177Ter", "hgvsWellDefined": "ENSP00000350277.2:p.Glu4177_Ala4551delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264188" }, { "coordinates": [ { "allele": "T", "end": 12495, "referenceAllele": "G", "start": 12494 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000398774.6:c.12421G>T" ], "proteinEffect": { "hgvs": "ENSP00000381756.2:p.Glu4141Ter", "hgvsWellDefined": "ENSP00000381756.2:p.Glu4141_Ala4515delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278413" }, { "coordinates": [ { "allele": "T", "end": 12636, "referenceAllele": "G", "start": 12635 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000436759.6:c.12598G>T" ], "proteinEffect": { "hgvs": "ENSP00000388180.2:p.Glu4200Ter", "hgvsWellDefined": "ENSP00000388180.2:p.Glu4200_Ala4574delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294136" }, { "coordinates": [ { "allele": "T", "end": 12586, "referenceAllele": "G", "start": 12585 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527096.5:c.12586G>T" ], "proteinEffect": { "hgvs": "ENSP00000434583.1:p.Glu4196Ter", "hgvsWellDefined": "ENSP00000434583.1:p.Glu4196_Ala4570delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352857" }, { "@id": "http://reg.genome.network/allele/PA2825176582", "coordinates": [ { "allele": "T", "end": 12647, "referenceAllele": "G", "start": 12646 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.4:c.12598G>T" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Glu4200Ter", "hgvsWellDefined": "NP_000436.2:p.Glu4200_Ala4574delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006507" }, { "@id": "http://reg.genome.network/allele/PA2830481427", "coordinates": [ { "allele": "T", "end": 12532, "referenceAllele": "G", "start": 12531 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.3:c.12475G>T" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Glu4159Ter", "hgvsWellDefined": "NP_958780.1:p.Glu4159_Ala4533delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044996" }, { "@id": "http://reg.genome.network/allele/PA2830487662", "coordinates": [ { "allele": "T", "end": 12600, "referenceAllele": "G", "start": 12599 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.2:c.12451G>T" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Glu4151Ter", "hgvsWellDefined": "NP_958781.1:p.Glu4151_Ala4525delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044997" }, { "@id": "http://reg.genome.network/allele/PA2742036277", "coordinates": [ { "allele": "T", "end": 13098, "referenceAllele": "G", "start": 13097 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.3:c.12928G>T" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Glu4310Ter", "hgvsWellDefined": "NP_958782.1:p.Glu4310_Ala4684delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044998" }, { "@id": "http://reg.genome.network/allele/PA2830494052", "coordinates": [ { "allele": "T", "end": 12495, "referenceAllele": "G", "start": 12494 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.2:c.12421G>T" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Glu4141Ter", "hgvsWellDefined": "NP_958783.1:p.Glu4141_Ala4515delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044999" }, { "@id": "http://reg.genome.network/allele/PA2830498688", "coordinates": [ { "allele": "T", "end": 12585, "referenceAllele": "G", "start": 12584 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.3:c.12517G>T" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Glu4173Ter", "hgvsWellDefined": "NP_958784.1:p.Glu4173_Ala4547delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045000" }, { "@id": "http://reg.genome.network/allele/PA2830503300", "coordinates": [ { "allele": "T", "end": 12538, "referenceAllele": "G", "start": 12537 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.2:c.12529G>T" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Glu4177Ter", "hgvsWellDefined": "NP_958785.1:p.Glu4177_Ala4551delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045001" }, { "@id": "http://reg.genome.network/allele/PA2830507933", "coordinates": [ { "allele": "T", "end": 12646, "referenceAllele": "G", "start": 12645 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.2:c.12517G>T" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Glu4173Ter", "hgvsWellDefined": "NP_958786.1:p.Glu4173_Ala4547delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045002" }, { "coordinates": [ { "allele": "T", "end": 13046, "referenceAllele": "G", "start": 13045 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.2:c.12943G>T" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Glu4315Ter", "hgvsWellDefined": "XP_005251033.1:p.Glu4315_Ala4689delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059371" }, { "coordinates": [ { "allele": "T", "end": 12646, "referenceAllele": "G", "start": 12645 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.2:c.12544G>T" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Glu4182Ter", "hgvsWellDefined": "XP_005251035.1:p.Glu4182_Ala4556delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059372" }, { "coordinates": [ { "allele": "T", "end": 12589, "referenceAllele": "G", "start": 12588 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.3:c.12532G>T" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Glu4178Ter", "hgvsWellDefined": "XP_005251036.1:p.Glu4178_Ala4552delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059373" }, { "coordinates": [ { "allele": "T", "end": 12679, "referenceAllele": "G", "start": 12678 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.3:c.12532G>T" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Glu4178Ter", "hgvsWellDefined": "XP_005251037.1:p.Glu4178_Ala4552delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059374" }, { "coordinates": [ { "allele": "T", "end": 12532, "referenceAllele": "G", "start": 12531 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.2:c.12490G>T" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Glu4164Ter", "hgvsWellDefined": "XP_005251038.1:p.Glu4164_Ala4538delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059375" }, { "coordinates": [ { "allele": "T", "end": 12531, "referenceAllele": "G", "start": 12530 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.2:c.12466G>T" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Glu4156Ter", "hgvsWellDefined": "XP_005251039.1:p.Glu4156_Ala4530delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059376" }, { "coordinates": [ { "allele": "T", "end": 12463, "referenceAllele": "G", "start": 12462 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250983.2:c.12448G>T" ], "proteinEffect": { "hgvs": "XP_005251040.1:p.Glu4150Ter", "hgvsWellDefined": "XP_005251040.1:p.Glu4150_Ala4524delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059377" }, { "coordinates": [ { "allele": "T", "end": 12522, "referenceAllele": "G", "start": 12521 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.3:c.12436G>T" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Glu4146Ter", "hgvsWellDefined": "XP_005251041.1:p.Glu4146_Ala4520delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059378" }, { "coordinates": [ { "allele": "T", "end": 12709, "referenceAllele": "G", "start": 12708 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.2:c.12613G>T" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Glu4205Ter", "hgvsWellDefined": "XP_006716651.1:p.Glu4205_Ala4579delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071749" }, { "coordinates": [ { "allele": "T", "end": 12478, "referenceAllele": "G", "start": 12477 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716589.2:c.12463G>T" ], "proteinEffect": { "hgvs": "XP_006716652.1:p.Glu4155Ter", "hgvsWellDefined": "XP_006716652.1:p.Glu4155_Ala4529delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071750" }, { "coordinates": [ { "allele": "T", "end": 12478, "referenceAllele": "G", "start": 12477 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.2:c.12463G>T" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Glu4155Ter", "hgvsWellDefined": "XP_006716653.1:p.Glu4155_Ala4529delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071751" }, { "coordinates": [ { "allele": "T", "end": 12634, "referenceAllele": "G", "start": 12633 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.1:c.12532G>T" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Glu4178Ter", "hgvsWellDefined": "XP_011515432.1:p.Glu4178_Ala4552delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084329" }, { "coordinates": [ { "allele": "T", "end": 12463, "referenceAllele": "G", "start": 12462 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.1:c.12448G>T" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Glu4150Ter", "hgvsWellDefined": "XP_011515433.1:p.Glu4150_Ala4524delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084330" }, { "coordinates": [ { "allele": "T", "end": 9258, "referenceAllele": "G", "start": 9257 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.1:c.9163G>T" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Glu3055Ter", "hgvsWellDefined": "XP_011515434.1:p.Glu3055_Ala3429delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084331" }, { "coordinates": [ { "allele": "T", "end": 13139, "referenceAllele": "G", "start": 13138 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.4:c.12943G>T" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Glu4315Ter", "hgvsWellDefined": "XP_005251033.1:p.Glu4315_Ala4689delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533529" }, { "coordinates": [ { "allele": "T", "end": 12665, "referenceAllele": "G", "start": 12664 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.3:c.12544G>T" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Glu4182Ter", "hgvsWellDefined": "XP_005251035.1:p.Glu4182_Ala4556delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533530" }, { "coordinates": [ { "allele": "T", "end": 12624, "referenceAllele": "G", "start": 12623 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.4:c.12532G>T" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Glu4178Ter", "hgvsWellDefined": "XP_005251036.1:p.Glu4178_Ala4552delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533531" }, { "coordinates": [ { "allele": "T", "end": 12709, "referenceAllele": "G", "start": 12708 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.4:c.12532G>T" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Glu4178Ter", "hgvsWellDefined": "XP_005251037.1:p.Glu4178_Ala4552delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533532" }, { "coordinates": [ { "allele": "T", "end": 12546, "referenceAllele": "G", "start": 12545 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.3:c.12490G>T" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Glu4164Ter", "hgvsWellDefined": "XP_005251038.1:p.Glu4164_Ala4538delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533533" }, { "coordinates": [ { "allele": "T", "end": 12535, "referenceAllele": "G", "start": 12534 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.4:c.12466G>T" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Glu4156Ter", "hgvsWellDefined": "XP_005251039.1:p.Glu4156_Ala4530delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533534" }, { "coordinates": [ { "allele": "T", "end": 13943, "referenceAllele": "G", "start": 13942 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.5:c.12436G>T" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Glu4146Ter", "hgvsWellDefined": "XP_005251041.1:p.Glu4146_Ala4520delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533535" }, { "coordinates": [ { "allele": "T", "end": 12717, "referenceAllele": "G", "start": 12716 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.3:c.12613G>T" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Glu4205Ter", "hgvsWellDefined": "XP_006716651.1:p.Glu4205_Ala4579delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539204" }, { "coordinates": [ { "allele": "T", "end": 12588, "referenceAllele": "G", "start": 12587 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.3:c.12463G>T" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Glu4155Ter", "hgvsWellDefined": "XP_006716653.1:p.Glu4155_Ala4529delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539205" }, { "coordinates": [ { "allele": "T", "end": 12653, "referenceAllele": "G", "start": 12652 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.2:c.12532G>T" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Glu4178Ter", "hgvsWellDefined": "XP_011515432.1:p.Glu4178_Ala4552delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544424" }, { "coordinates": [ { "allele": "T", "end": 12572, "referenceAllele": "G", "start": 12571 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.2:c.12448G>T" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Glu4150Ter", "hgvsWellDefined": "XP_011515433.1:p.Glu4150_Ala4524delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544425" }, { "coordinates": [ { "allele": "T", "end": 9280, "referenceAllele": "G", "start": 9279 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.2:c.9163G>T" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Glu3055Ter", "hgvsWellDefined": "XP_011515434.1:p.Glu3055_Ala3429delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544426" }, { "@id": "http://reg.genome.network/allele/PA2825176582", "coordinates": [ { "allele": "T", "end": 12647, "referenceAllele": "G", "start": 12646 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.5:c.12598G>T" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Glu4200Ter", "hgvsWellDefined": "NP_000436.2:p.Glu4200_Ala4574delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674849" }, { "@id": "http://reg.genome.network/allele/PA2830481427", "coordinates": [ { "allele": "T", "end": 12532, "referenceAllele": "G", "start": 12531 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.4:c.12475G>T" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Glu4159Ter", "hgvsWellDefined": "NP_958780.1:p.Glu4159_Ala4533delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.12475G>T" }, "RefSeq": { "hgvs": "NM_201378.4:c.12475G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Glu4159Ter" }, "RefSeq": { "hgvs": "NP_958780.1:p.Glu4159Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830487662", "coordinates": [ { "allele": "T", "end": 12514, "referenceAllele": "G", "start": 12513 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.12451G>T" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Glu4151Ter", "hgvsWellDefined": "NP_958781.1:p.Glu4151_Ala4525delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA2742036277", "coordinates": [ { "allele": "T", "end": 13148, "referenceAllele": "G", "start": 13147 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.12928G>T" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Glu4310Ter", "hgvsWellDefined": "NP_958782.1:p.Glu4310_Ala4684delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830494052", "coordinates": [ { "allele": "T", "end": 12528, "referenceAllele": "G", "start": 12527 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.12421G>T" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Glu4141Ter", "hgvsWellDefined": "NP_958783.1:p.Glu4141_Ala4515delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830498688", "coordinates": [ { "allele": "T", "end": 12612, "referenceAllele": "G", "start": 12611 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.12517G>T" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Glu4173Ter", "hgvsWellDefined": "NP_958784.1:p.Glu4173_Ala4547delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830503300", "coordinates": [ { "allele": "T", "end": 12638, "referenceAllele": "G", "start": 12637 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.12529G>T" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Glu4177Ter", "hgvsWellDefined": "NP_958785.1:p.Glu4177_Ala4551delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830507933", "coordinates": [ { "allele": "T", "end": 12653, "referenceAllele": "G", "start": 12652 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.12517G>T" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Glu4173Ter", "hgvsWellDefined": "NP_958786.1:p.Glu4173_Ala4547delinsGlnGluCysGluTrpGluGluIleThrIleSerSerSerAspGlyValValLysSerMetIleIleAspArgArgSerGlyArgGlnTyrAspIleAspAspAlaIleAlaLysAsnLeuIleAspArgSerAlaLeuAspGlnTyrArgAlaGlyThrLeuSerIleThrGluPheAlaAspMetLeuSerGlyAsnAlaGlyGlyPheArgSerArgSerSerSerValGlySerSerSerSerTyrProIleSerProAlaValSerArgThrGlnLeuAlaSerTrpSerAspProThrGluGluThrGlyProValAlaGlyIleLeuAspThrGluThrLeuGluLysValSerIleThrGluAlaMetHisArgAsnLeuValAspAsnIleThrGlyGlnArgLeuLeuGluAlaGlnAlaCysThrGlyGlyIleIleAspProSerThrGlyGluArgPheProValThrAspAlaValAsnLysGlyLeuValAspLysIleMetValAspArgIleAsnLeuAlaGlnLysAlaPheCysGlyPheGluAspProArgThrLysThrLysMetSerAlaAlaGlnAlaLeuLysLysGlyTrpLeuTyrTyrGluAlaGlyGlnArgPheLeuGluValGlnTyrLeuThrGlyGlyLeuIleGluProAspThrProGlyArgValProLeuAspGluAlaLeuGlnArgGlyThrValAspAlaArgThrAlaGlnLysLeuArgAspValGlyAlaTyrSerLysTyrLeuThrCysProLysThrLysLeuLysIleSerTyrLysAspAlaLeuAspArgSerMetValGluGluGlyThrGlyLeuArgLeuLeuGluAlaAlaAlaGlnSerThrLysGlyTyrTyrSerProTyrSerValSerGlySerGlySerThrAlaGlySerArgThrGlySerArgThrGlySerArgAlaGlySerArgArgGlySerPheAspAlaThrGlySerGlyPheSerMetThrPheSerSerSerSerTyrSerSerSerGlyTyrGlyArgArgTyrAlaSerGlySerSerAlaSerLeuGlyGlyProGluSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.12517G>T" }, "RefSeq": { "hgvs": "NM_201384.3:c.12517G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Glu4173Ter" }, "RefSeq": { "hgvs": "NP_958786.1:p.Glu4173Ter" } } } } ], "type": "nucleotide" }