{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA375631127", "communityStandardTitle": [ "NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415178[alleleid]", "alleleId": 415178, "preferredName": "NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426360", "RCV": [ "RCV000489297" ], "variationId": 426360 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.139391598G>T?assembly=hg19", "id": "chr9:g.139391598G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.136497146G>T?assembly=hg38", "id": "chr9:g.136497146G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/761562076", "rs": 761562076 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 136497146, "referenceAllele": "G", "start": 136497145 } ], "hgvs": [ "NC_000009.12:g.136497146G>T", "CM000671.2:g.136497146G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 139391598, "referenceAllele": "G", "start": 139391597 } ], "hgvs": [ "NC_000009.11:g.139391598G>T", "CM000671.1:g.139391598G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 138511419, "referenceAllele": "G", "start": 138511418 } ], "hgvs": [ "NC_000009.10:g.138511419G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 53641, "referenceAllele": "C", "start": 53640 } ], "hgvs": [ "NG_007458.1:g.53641C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000584" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6855, "referenceAllele": "C", "start": 6854 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000651671.1:c.6593C>A" ], "proteinEffect": { "hgvs": "ENSP00000498587.1:p.Ser2198Ter", "hgvsWellDefined": "ENSP00000498587.1:p.Ser2198_Lys2555delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS771797", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651671.1:c.6593C>A" }, "RefSeq": { "hgvs": "NM_017617.5:c.6593C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498587.1:p.Ser2198Ter" }, "RefSeq": { "hgvs": "NP_060087.3:p.Ser2198Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 7142, "referenceAllele": "C", "start": 7141 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000679595.1:c.*1633C>A" ], "proteinEffect": { "hgvs": "ENSP00000506241.1:n.*1633C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779223" }, { "coordinates": [ { "allele": "A", "end": 3189, "referenceAllele": "C", "start": 3188 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000679969.1:n.3189C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779591" }, { "coordinates": [ { "allele": "A", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680003.1:n.2925C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779625" }, { "coordinates": [ { "allele": "A", "end": 6690, "referenceAllele": "C", "start": 6689 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680133.1:c.6479C>A" ], "proteinEffect": { "hgvs": "ENSP00000505319.1:p.Ser2160Ter", "hgvsWellDefined": "ENSP00000505319.1:p.Ser2160_Lys2517delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779754" }, { "coordinates": [ { "allele": "A", "end": 6735, "referenceAllele": "C", "start": 6734 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680218.1:c.6473C>A" ], "proteinEffect": { "hgvs": "ENSP00000505339.1:p.Ser2158Ter", "hgvsWellDefined": "ENSP00000505339.1:p.Ser2158_Lys2515delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779838" }, { "coordinates": [ { "allele": "A", "end": 6741, "referenceAllele": "C", "start": 6740 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680668.1:c.6479C>A" ], "proteinEffect": { "hgvs": "ENSP00000506336.1:p.Ser2160Ter", "hgvsWellDefined": "ENSP00000506336.1:p.Ser2160_Lys2517delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780283" }, { "coordinates": [ { "allele": "A", "end": 4282, "referenceAllele": "C", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680778.1:c.4190C>A" ], "proteinEffect": { "hgvs": "ENSP00000506033.1:p.Ser1397Ter", "hgvsWellDefined": "ENSP00000506033.1:p.Ser1397_Lys1754delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780393" }, { "coordinates": [ { "allele": "A", "end": 6823, "referenceAllele": "C", "start": 6822 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000680924.1:c.*3993C>A" ], "proteinEffect": { "hgvs": "ENSP00000506031.1:n.*3993C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780538" }, { "coordinates": [ { "allele": "A", "end": 6936, "referenceAllele": "C", "start": 6935 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000681135.1:c.*4202C>A" ], "proteinEffect": { "hgvs": "ENSP00000506636.1:n.*4202C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780747" }, { "coordinates": [ { "allele": "A", "end": 4698, "referenceAllele": "C", "start": 4697 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000681298.1:n.4698C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780909" }, { "coordinates": [ { "allele": "A", "end": 6253, "referenceAllele": "C", "start": 6252 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000681454.1:c.*5829C>A" ], "proteinEffect": { "hgvs": "ENSP00000505763.1:n.*5829C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781061" }, { "coordinates": [ { "allele": "A", "end": 6669, "referenceAllele": "C", "start": 6668 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "ENST00000277541.6:c.6593C>A" ], "proteinEffect": { "hgvs": "ENSP00000277541.6:p.Ser2198Ter", "hgvsWellDefined": "ENSP00000277541.6:p.Ser2198_Lys2555delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252749" }, { "@id": "http://reg.genome.network/allele/PA645491400", "coordinates": [ { "allele": "A", "end": 6593, "referenceAllele": "C", "start": 6592 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "NM_017617.3:c.6593C>A" ], "proteinEffect": { "hgvs": "NP_060087.3:p.Ser2198Ter", "hgvsWellDefined": "NP_060087.3:p.Ser2198_Lys2555delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035047" }, { "coordinates": [ { "allele": "A", "end": 5913, "referenceAllele": "C", "start": 5912 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "XM_011518717.1:c.5894C>A" ], "proteinEffect": { "hgvs": "XP_011517019.1:p.Ser1965Ter", "hgvsWellDefined": "XP_011517019.1:p.Ser1965_Lys2322delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085891" }, { "@id": "http://reg.genome.network/allele/PA645491400", "coordinates": [ { "allele": "A", "end": 6855, "referenceAllele": "C", "start": 6854 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "NM_017617.5:c.6593C>A" ], "proteinEffect": { "hgvs": "NP_060087.3:p.Ser2198Ter", "hgvsWellDefined": "NP_060087.3:p.Ser2198_Lys2555delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525815", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651671.1:c.6593C>A" }, "RefSeq": { "hgvs": "NM_017617.5:c.6593C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498587.1:p.Ser2198Ter" }, "RefSeq": { "hgvs": "NP_060087.3:p.Ser2198Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 5885, "referenceAllele": "C", "start": 5884 } ], "gene": "http://reg.genome.network/gene/GN007881", "geneNCBI_id": 4851, "geneSymbol": "NOTCH1", "hgvs": [ "XM_011518717.2:c.5870C>A" ], "proteinEffect": { "hgvs": "XP_011517019.2:p.Ser1957Ter", "hgvsWellDefined": "XP_011517019.2:p.Ser1957_Lys2314delinsProValAspSerLeuGluSerProHisGlyTyrLeuSerAspValAlaSerProProLeuLeuProSerProPheGlnGlnSerProSerValProLeuAsnHisLeuProGlyMetProAspThrHisLeuGlyIleGlyHisLeuAsnValAlaAlaLysProGluMetAlaAlaLeuGlyGlyGlyGlyArgLeuAlaPheGluThrGlyProProArgLeuSerHisLeuProValAlaSerGlyThrSerThrValLeuGlySerSerSerGlyGlyAlaLeuAsnPheThrValGlyGlySerThrSerLeuAsnGlyGlnCysGluTrpLeuSerArgLeuGlnSerGlyMetValProAsnGlnTyrAsnProLeuArgGlySerValAlaProGlyProLeuSerThrGlnAlaProSerLeuGlnHisGlyMetValGlyProLeuHisSerSerLeuAlaAlaSerAlaLeuSerGlnMetMetSerTyrGlnGlyLeuProSerThrArgLeuAlaThrGlnProHisLeuValGlnThrGlnGlnValGlnProGlnAsnLeuGlnMetGlnGlnGlnAsnLeuGlnProAlaAsnIleGlnGlnGlnGlnSerLeuGlnProProProProProProGlnProHisLeuGlyValSerSerAlaAlaSerGlyHisLeuGlyArgSerPheLeuSerGlyGluProSerGlnAlaAspValGlnProLeuGlyProSerSerLeuAlaValHisThrIleLeuProGlnGluSerProAlaLeuProThrSerLeuProSerSerLeuValProProValThrAlaAlaGlnPheLeuThrProProSerGlnHisSerTyrSerSerProValAspAsnThrProSerHisGlnLeuGlnValProGluHisProPheLeuThrProSerProGluSerProAspGlnTrpSerSerSerSerProHisSerAsnValSerAspTrpSerGluGlyValSerSerProProThrSerMetGlnSerGlnIleAlaArgIleProGluAlaPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545044" } ], "type": "nucleotide" }