{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2130441", "communityStandardTitle": [ "NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=265827", "active": true, "id": "COSM265827" }, { "active": false, "id": "COSM5101697" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488352[alleleid]", "alleleId": 488352, "preferredName": "NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496928", "RCV": [ "RCV000595636", "RCV001138381", "RCV003155242", "RCV003915688" ], "variationId": 496928 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-220419340-G-A", "id": "2-220419340-G-A", "variant": "2:220419340 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.220419340G>A?assembly=hg19", "id": "chr2:g.220419340G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.219554618G>A?assembly=hg38", "id": "chr2:g.219554618G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/116131367", "rs": 116131367 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-220419340-G-A?dataset=gnomad_r2_1", "id": "2-220419340-G-A", "variant": "2:220419340 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-219554618-G-A?dataset=gnomad_r3", "id": "2-219554618-G-A", "variant": "2:219554618 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-219554618-G-A?dataset=gnomad_r4", "id": "2-219554618-G-A", "variant": "2:219554618 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 219554618, "referenceAllele": "G", "start": 219554617 } ], "hgvs": [ "NC_000002.12:g.219554618G>A", "CM000664.2:g.219554618G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 220419340, "referenceAllele": "G", "start": 220419339 } ], "hgvs": [ "NC_000002.11:g.220419340G>A", "CM000664.1:g.220419340G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 220127584, "referenceAllele": "G", "start": 220127583 } ], "hgvs": [ "NC_000002.10:g.220127584G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 21929, "referenceAllele": "C", "start": 21928 } ], "hgvs": [ "NG_016977.1:g.21929C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003346" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 5039, "referenceAllele": "C", "start": 5038 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000404537.6:c.4732C>T" ], "proteinEffect": { "hgvs": "ENSP00000385636.1:p.Gln1578Ter", "hgvsWellDefined": "ENSP00000385636.1:p.Gln1578_Asn1896delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404537.6:c.4732C>T" }, "RefSeq": { "hgvs": "NM_015311.3:c.4732C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385636.1:p.Gln1578Ter" }, "RefSeq": { "hgvs": "NP_056126.1:p.Gln1578Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4465, "referenceAllele": "C", "start": 4464 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000373876.5:c.4456C>T" ], "proteinEffect": { "hgvs": "ENSP00000362983.1:p.Gln1486Ter", "hgvsWellDefined": "ENSP00000362983.1:p.Gln1486_Asn1804delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269942" }, { "coordinates": [ { "allele": "T", "end": 4789, "referenceAllele": "C", "start": 4788 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000404537.5:c.4732C>T" ], "proteinEffect": { "hgvs": "ENSP00000385636.1:p.Gln1578Ter", "hgvsWellDefined": "ENSP00000385636.1:p.Gln1578_Asn1896delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280097" }, { "coordinates": [ { "allele": "T", "end": 3716, "endIntronDirection": "+", "endIntronOffset": 1402, "referenceAllele": "C", "start": 3716, "startIntronDirection": "+", "startIntronOffset": 1401 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000465149.1:n.3716+1402C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308815" }, { "coordinates": [ { "allele": "T", "end": 155, "referenceAllele": "C", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "ENST00000596474.1:n.155C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS395543" }, { "@id": "http://reg.genome.network/allele/PA658812434", "coordinates": [ { "allele": "T", "end": 5046, "referenceAllele": "C", "start": 5045 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_015311.2:c.4732C>T" ], "proteinEffect": { "hgvs": "NP_056126.1:p.Gln1578Ter", "hgvsWellDefined": "NP_056126.1:p.Gln1578_Asn1896delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033914" }, { "coordinates": [ { "allele": "T", "end": 4801, "referenceAllele": "C", "start": 4800 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_005246424.3:c.4456C>T" ], "proteinEffect": { "hgvs": "XP_005246481.1:p.Gln1486Ter", "hgvsWellDefined": "XP_005246481.1:p.Gln1486_Glu1804delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057621" }, { "coordinates": [ { "allele": "T", "end": 5077, "referenceAllele": "C", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510854.1:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_011509156.1:p.Gln1578Ter", "hgvsWellDefined": "XP_011509156.1:p.Gln1578_Phe1937delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078115" }, { "coordinates": [ { "allele": "T", "end": 5077, "referenceAllele": "C", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510855.1:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_011509157.1:p.Gln1578Ter", "hgvsWellDefined": "XP_011509157.1:p.Gln1578_Thr1927delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaProCysGlyValIleProLeuGlnAlaThrArgArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078116" }, { "coordinates": [ { "allele": "T", "end": 5077, "referenceAllele": "C", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510856.1:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_011509158.1:p.Gln1578Ter", "hgvsWellDefined": "XP_011509158.1:p.Gln1578_Ser1927delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyPheSerSerLeuLeuProLeuAspHisValCysLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078117" }, { "coordinates": [ { "allele": "T", "end": 5077, "referenceAllele": "C", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510857.1:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_011509159.1:p.Gln1578Ter", "hgvsWellDefined": "XP_011509159.1:p.Gln1578_Phe1918delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078118" }, { "coordinates": [ { "allele": "T", "end": 5077, "referenceAllele": "C", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510858.1:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_011509160.1:p.Gln1578Ter", "hgvsWellDefined": "XP_011509160.1:p.Gln1578_Asn1915delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078119" }, { "coordinates": [ { "allele": "T", "end": 4801, "referenceAllele": "C", "start": 4800 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510859.1:c.4456C>T" ], "proteinEffect": { "hgvs": "XP_011509161.1:p.Gln1486Ter", "hgvsWellDefined": "XP_011509161.1:p.Gln1486_Phe1845delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078120" }, { "coordinates": [ { "allele": "T", "end": 4801, "referenceAllele": "C", "start": 4800 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510860.1:c.4456C>T" ], "proteinEffect": { "hgvs": "XP_011509162.1:p.Gln1486Ter", "hgvsWellDefined": "XP_011509162.1:p.Gln1486_Phe1845delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078121" }, { "coordinates": [ { "allele": "T", "end": 4525, "referenceAllele": "C", "start": 4524 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510861.1:c.4180C>T" ], "proteinEffect": { "hgvs": "XP_011509163.1:p.Gln1394Ter", "hgvsWellDefined": "XP_011509163.1:p.Gln1394_Phe1753delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078122" }, { "coordinates": [ { "allele": "T", "end": 5077, "referenceAllele": "C", "start": 5076 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510862.1:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_011509164.1:p.Gln1578Ter", "hgvsWellDefined": "XP_011509164.1:p.Gln1578_Ala1651delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGlyValAlaSerArgThrThrAlaCysLeuLeuThrCysValAlaLeuLeuThrProGlyArgGluArgAlaTyrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078123" }, { "coordinates": [ { "allele": "T", "end": 4954, "endIntronDirection": "+", "endIntronOffset": 1402, "referenceAllele": "C", "start": 4954, "startIntronDirection": "+", "startIntronOffset": 1401 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510863.1:c.4609+1402C>T" ], "proteinEffect": { "hgvs": "XP_011509165.1:n.4609+1402C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS078124" }, { "coordinates": [ { "allele": "T", "end": 4953, "referenceAllele": "C", "start": 4952 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510865.1:c.*126C>T" ], "proteinEffect": { "hgvs": "XP_011509167.1:n.*126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS078126" }, { "coordinates": [ { "allele": "T", "end": 5073, "referenceAllele": "C", "start": 5072 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510857.2:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_011509159.1:p.Gln1578Ter", "hgvsWellDefined": "XP_011509159.1:p.Gln1578_Phe1918delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541912" }, { "coordinates": [ { "allele": "T", "end": 4943, "endIntronDirection": "+", "endIntronOffset": 1402, "referenceAllele": "C", "start": 4943, "startIntronDirection": "+", "startIntronOffset": 1401 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510863.3:c.4609+1402C>T" ], "proteinEffect": { "hgvs": "XP_011509165.1:n.4609+1402C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS541913" }, { "coordinates": [ { "allele": "T", "end": 4941, "referenceAllele": "C", "start": 4940 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_011510865.2:c.*126C>T" ], "proteinEffect": { "hgvs": "XP_011509167.1:n.*126C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS541915" }, { "coordinates": [ { "allele": "T", "end": 5073, "referenceAllele": "C", "start": 5072 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003696.2:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_016859185.1:p.Gln1578Ter", "hgvsWellDefined": "XP_016859185.1:p.Gln1578_Ser1908delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyPheSerSerLeuLeuProLeuAspHisValCysLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559367" }, { "coordinates": [ { "allele": "T", "end": 5073, "referenceAllele": "C", "start": 5072 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003697.2:c.4732C>T" ], "proteinEffect": { "hgvs": "XP_016859186.1:p.Gln1578Ter", "hgvsWellDefined": "XP_016859186.1:p.Gln1578_Thr1908delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaProCysGlyValIleProLeuGlnAlaThrArgArgThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559368" }, { "coordinates": [ { "allele": "T", "end": 4795, "referenceAllele": "C", "start": 4794 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003698.1:c.4456C>T" ], "proteinEffect": { "hgvs": "XP_016859187.1:p.Gln1486Ter", "hgvsWellDefined": "XP_016859187.1:p.Gln1486_Phe1826delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559369" }, { "coordinates": [ { "allele": "T", "end": 4796, "referenceAllele": "C", "start": 4795 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003699.1:c.4456C>T" ], "proteinEffect": { "hgvs": "XP_016859188.1:p.Gln1486Ter", "hgvsWellDefined": "XP_016859188.1:p.Gln1486_Phe1826delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559370" }, { "coordinates": [ { "allele": "T", "end": 4518, "referenceAllele": "C", "start": 4517 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "XM_017003700.1:c.4180C>T" ], "proteinEffect": { "hgvs": "XP_016859189.1:p.Gln1394Ter", "hgvsWellDefined": "XP_016859189.1:p.Gln1394_Phe1734delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluAlaGlyProAlaLysProLeuValHisGlyLeuArgCysMetAspLysGlnPheMetAspLysGlnAlaPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559371" }, { "@id": "http://reg.genome.network/allele/PA658812434", "coordinates": [ { "allele": "T", "end": 5039, "referenceAllele": "C", "start": 5038 } ], "gene": "http://reg.genome.network/gene/GN029092", "geneNCBI_id": 23363, "geneSymbol": "OBSL1", "hgvs": [ "NM_015311.3:c.4732C>T" ], "proteinEffect": { "hgvs": "NP_056126.1:p.Gln1578Ter", "hgvsWellDefined": "NP_056126.1:p.Gln1578_Asn1896delinsLeuTyrProGlyProLysCysHisIleHisSerAspGlyHisArgHisArgLeuValLeuAsnGlyLeuGlyLeuAlaAspSerGlyCysValSerPheThrAlaAspSerLeuArgCysAlaAlaArgLeuIleValArgGluValProValThrIleValArgGlyProHisAspLeuGluValThrGluGlyAspThrAlaThrPheGluCysGluLeuSerGlnAlaLeuAlaAspValThrTrpGluLysAspGlyAsnAlaLeuThrProSerProArgLeuArgLeuGlnAlaLeuGlyThrArgArgLeuLeuGlnLeuArgArgCysGlyProSerAspAlaGlyThrTyrSerCysAlaValGlyThrAlaArgAlaGlyProValArgLeuThrValArgGluArgThrValAlaValLeuSerGluLeuArgSerValSerAlaArgGluGlyAspGlyAlaThrPheGluCysThrValSerGluValGluThrThrGlyArgTrpGluLeuGlyGlyArgProLeuArgProGlyAlaArgValArgIleArgGlnGluGlyLysLysHisIleLeuValLeuSerGluLeuArgAlaGluAspAlaGlyGluValArgPheGlnAlaGlyProAlaGlnSerLeuAlaLeuLeuGluValGluAlaLeuProLeuGlnMetCysArgHisProProArgGluLysThrValLeuValGlyArgArgAlaValLeuGluValThrValSerArgSerGlyGlyHisValCysTrpLeuArgGluGlyAlaGluLeuCysProGlyAspLysTyrGluMetArgSerHisGlyProThrHisSerLeuValIleHisAspValArgProGluAspGlnGlyThrTyrCysCysGlnAlaGlyGlnAspSerThrHisThrArgLeuLeuValGluGlyAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668708", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000404537.6:c.4732C>T" }, "RefSeq": { "hgvs": "NM_015311.3:c.4732C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385636.1:p.Gln1578Ter" }, "RefSeq": { "hgvs": "NP_056126.1:p.Gln1578Ter" } } } } ], "type": "nucleotide" }