{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7229963", "communityStandardTitle": [ "NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227359[alleleid]", "alleleId": 227359, "preferredName": "NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225481", "RCV": [ "RCV000490389" ], "variationId": 225481 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-65239396-C-A", "id": "14-65239396-C-A", "variant": "14:65239396 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.65239396C>A?assembly=hg19", "id": "chr14:g.65239396C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.64772678C>A?assembly=hg38", "id": "chr14:g.64772678C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200386310", "rs": 200386310 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-65239396-C-A?dataset=gnomad_r2_1", "id": "14-65239396-C-A", "variant": "14:65239396 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-64772678-C-A?dataset=gnomad_r3", "id": "14-64772678-C-A", "variant": "14:64772678 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-64772678-C-A?dataset=gnomad_r4", "id": "14-64772678-C-A", "variant": "14:64772678 C / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 64772678, "referenceAllele": "C", "start": 64772677 } ], "hgvs": [ "NC_000014.9:g.64772678C>A", "CM000676.2:g.64772678C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 65239396, "referenceAllele": "C", "start": 65239395 } ], "hgvs": [ "NC_000014.8:g.65239396C>A", "CM000676.1:g.65239396C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 64309149, "referenceAllele": "C", "start": 64309148 } ], "hgvs": [ "NC_000014.7:g.64309149C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 55471, "referenceAllele": "G", "start": 55470 } ], "hgvs": [ "NG_016202.1:g.55471G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003008" }, { "coordinates": [ { "allele": "T", "end": 112215, "referenceAllele": "G", "start": 112214 } ], "hgvs": [ "NG_016202.2:g.112215G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616217" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5622, "referenceAllele": "G", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "ENST00000389720.4:c.5455G>T" ], "proteinEffect": { "hgvs": "ENSP00000374370.4:p.Glu1819Ter", "hgvsWellDefined": "ENSP00000374370.4:p.Glu1819_Tyr2137delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProValSerLeuTrpSerArgLeuSerSerSerTrpGluSerLeuGlnProGluProSerHisProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752835" }, { "coordinates": [ { "allele": "T", "end": 5622, "referenceAllele": "G", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "ENST00000644917.1:c.5455G>T" ], "proteinEffect": { "hgvs": "ENSP00000495909.1:p.Glu1819Ter", "hgvsWellDefined": "ENSP00000495909.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768075", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644917.1:c.5455G>T" }, "RefSeq": { "hgvs": "NM_001355436.2:c.5455G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495909.1:p.Glu1819Ter" }, "RefSeq": { "hgvs": "NP_001342365.1:p.Glu1819Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5455, "referenceAllele": "G", "start": 5454 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "ENST00000389720.3:c.5455G>T" ], "proteinEffect": { "hgvs": "ENSP00000374370.3:p.Glu1819Ter", "hgvsWellDefined": "ENSP00000374370.3:p.Glu1819_Val2106delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrAlaSerArgGlyGlyArgArgAspSerArgGlyGlySerSerPheProProCysGlyHisArgGluAsnValProGlyGlnSerLeuValSerPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274276" }, { "coordinates": [ { "allele": "T", "end": 5488, "referenceAllele": "G", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "ENST00000389721.9:c.5455G>T" ], "proteinEffect": { "hgvs": "ENSP00000374371.5:p.Glu1819Ter", "hgvsWellDefined": "ENSP00000374371.5:p.Glu1819_Tyr2137delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProValSerLeuTrpSerArgLeuSerSerSerTrpGluSerLeuGlnProGluProSerHisProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274277" }, { "coordinates": [ { "allele": "T", "end": 5509, "referenceAllele": "G", "start": 5508 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "ENST00000389722.7:c.5455G>T" ], "proteinEffect": { "hgvs": "ENSP00000374372.3:p.Glu1819Ter", "hgvsWellDefined": "ENSP00000374372.3:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274278" }, { "coordinates": [ { "allele": "T", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "ENST00000553938.5:c.1450G>T" ], "proteinEffect": { "hgvs": "ENSP00000451324.1:p.Glu484Ter", "hgvsWellDefined": "ENSP00000451324.1:p.Glu484_Lys1028delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnSerLysGlyGluGluGlyGluGluArgArgGluThrGluGluGluAspGluGluGluGluGluThrGluSerValAlaValGluMetGlnGlnHisAlaSerHisValSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS370252" }, { "coordinates": [ { "allele": "T", "end": 5598, "referenceAllele": "G", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "ENST00000556626.5:c.5455G>T" ], "proteinEffect": { "hgvs": "ENSP00000451752.1:p.Glu1819Ter", "hgvsWellDefined": "ENSP00000451752.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372369" }, { "coordinates": [ { "allele": "T", "end": 5509, "referenceAllele": "G", "start": 5508 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "NM_000347.5:c.5455G>T" ], "proteinEffect": { "hgvs": "NP_000338.3:p.Glu1819Ter", "hgvsWellDefined": "NP_000338.3:p.Glu1819_Tyr2137delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProValSerLeuTrpSerArgLeuSerSerSerTrpGluSerLeuGlnProGluProSerHisProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006410" }, { "@id": "http://reg.genome.network/allele/PA645453129", "coordinates": [ { "allele": "T", "end": 5509, "referenceAllele": "G", "start": 5508 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "NM_001024858.2:c.5455G>T" ], "proteinEffect": { "hgvs": "NP_001020029.1:p.Glu1819Ter", "hgvsWellDefined": "NP_001020029.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008801" }, { "coordinates": [ { "allele": "T", "end": 5604, "referenceAllele": "G", "start": 5603 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "XM_005268023.3:c.5455G>T" ], "proteinEffect": { "hgvs": "XP_005268080.1:p.Glu1819Ter", "hgvsWellDefined": "XP_005268080.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065591" }, { "@id": "http://reg.genome.network/allele/PA645453129", "coordinates": [ { "allele": "T", "end": 5741, "referenceAllele": "G", "start": 5740 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "NM_001024858.3:c.5455G>T" ], "proteinEffect": { "hgvs": "NP_001020029.1:p.Glu1819Ter", "hgvsWellDefined": "NP_001020029.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511075" }, { "@id": "http://reg.genome.network/allele/PA2828050400", "coordinates": [ { "allele": "T", "end": 5622, "referenceAllele": "G", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "NM_001355436.2:c.5455G>T" ], "proteinEffect": { "hgvs": "NP_001342365.1:p.Glu1819Ter", "hgvsWellDefined": "NP_001342365.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522888", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644917.1:c.5455G>T" }, "RefSeq": { "hgvs": "NM_001355436.2:c.5455G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495909.1:p.Glu1819Ter" }, "RefSeq": { "hgvs": "NP_001342365.1:p.Glu1819Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA891866442", "coordinates": [ { "allele": "T", "end": 5622, "referenceAllele": "G", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "NM_001355437.2:c.5455G>T" ], "proteinEffect": { "hgvs": "NP_001342366.1:p.Glu1819Ter", "hgvsWellDefined": "NP_001342366.1:p.Glu1819_Tyr2137delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProValSerLeuTrpSerArgLeuSerSerSerTrpGluSerLeuGlnProGluProSerHisProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522889" }, { "coordinates": [ { "allele": "T", "end": 5721, "referenceAllele": "G", "start": 5720 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "XM_017021612.2:c.5455G>T" ], "proteinEffect": { "hgvs": "XP_016877101.1:p.Glu1819Ter", "hgvsWellDefined": "XP_016877101.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572766" }, { "coordinates": [ { "allele": "T", "end": 5866, "referenceAllele": "G", "start": 5865 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "XM_024449699.1:c.5455G>T" ], "proteinEffect": { "hgvs": "XP_024305467.1:p.Glu1819Ter", "hgvsWellDefined": "XP_024305467.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583246" }, { "@id": "http://reg.genome.network/allele/PA645453129", "coordinates": [ { "allele": "T", "end": 5741, "referenceAllele": "G", "start": 5740 } ], "gene": "http://reg.genome.network/gene/GN011274", "geneNCBI_id": 6710, "geneSymbol": "SPTB", "hgvs": [ "NM_001024858.4:c.5455G>T" ], "proteinEffect": { "hgvs": "NP_001020029.1:p.Glu1819Ter", "hgvsWellDefined": "NP_001020029.1:p.Glu1819_Lys2328delinsLeuProGluAspValGlyLeuAspAlaSerThrAlaGluSerPheHisArgValHisThrAlaPheGluArgGluLeuHisLeuLeuGlyValGlnValGlnGlnPheGlnAspValAlaThrArgLeuGlnThrAlaTyrAlaGlyGluLysAlaGluAlaIleGlnAsnLysGluGlnGluValSerAlaAlaTrpGlnAlaLeuLeuAspAlaCysAlaGlyArgArgThrGlnLeuValAspThrAlaAspLysPheArgPhePheSerMetAlaArgAspLeuLeuSerTrpMetGluSerIleIleArgGlnIleGluThrGlnGluArgProArgAspValSerSerValGluLeuLeuMetLysTyrHisGlnGlyIleAsnAlaGluIleGluThrArgSerLysAsnPheSerAlaCysLeuGluLeuGlyGluSerLeuLeuGlnArgGlnHisGlnAlaSerGluGluIleArgGluLysLeuGlnGlnValMetSerArgArgLysGluMetAsnGluLysTrpGluAlaArgTrpGluArgLeuArgMetLeuLeuGluValCysGlnPheSerArgAspAlaSerValAlaGluAlaTrpLeuIleAlaGlnGluProTyrLeuAlaSerGlyAspPheGlyHisThrValAspSerValGluLysLeuIleLysArgHisGluAlaPheGluLysSerThrAlaSerTrpAlaGluArgPheAlaAlaLeuGluLysProThrThrLeuGluLeuLysGluArgGlnIleAlaGluArgProAlaGluGluThrGlyProGlnGluGluGluGlyGluThrAlaGlyGluAlaProValSerHisHisAlaAlaThrGluArgThrSerProGlyGluGluGluGlyThrTrpProGlnAsnLeuGlnGlnProProProProGlyGlnHisLysAspGlyGlnLysSerThrGlyAspGluArgProThrThrGluProLeuPheLysValLeuAspThrProLeuSerGluGlyAspGluProAlaThrLeuProAlaProArgAspHisGlyGlnSerValGlnMetGluGlyTyrLeuGlyArgLysHisAspLeuGluGlyProAsnLysLysAlaSerAsnArgSerTrpAsnAsnLeuTyrCysValLeuArgAsnSerGluLeuThrPheTyrLysAspAlaLysAsnLeuAlaLeuGlyMetProTyrHisGlyGluGluProLeuAlaLeuArgHisAlaIleCysGluIleAlaAlaAsnTyrLysLysLysLysHisValPheLysLeuArgLeuSerAsnGlySerGluTrpLeuPheHisGlyLysAspGluGluGluMetLeuSerTrpLeuGlnGlyValSerThrAlaIleAsnGluSerGlnSerIleArgValLysAlaGlnSerLeuProLeuProSerLeuSerGlyProAspAlaSerLeuGlyLysLysAspLysGluLysArgPheSerPhePheProLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711442" } ], "type": "nucleotide" }