{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379094195", "communityStandardTitle": [ "NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2149940[alleleid]", "alleleId": 2149940, "preferredName": "NM_001909.5(CTSD):c.832G>T (p.Glu278Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2096023", "RCV": [ "RCV003013958" ], "variationId": 2096023 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1775364C>A?assembly=hg19", "id": "chr11:g.1775364C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.1754134C>A?assembly=hg38", "id": "chr11:g.1754134C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1402574017", "rs": 1402574017 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1754134, "referenceAllele": "C", "start": 1754133 } ], "hgvs": [ "NC_000011.10:g.1754134C>A", "CM000673.2:g.1754134C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1775364, "referenceAllele": "C", "start": 1775363 } ], "hgvs": [ "NC_000011.9:g.1775364C>A", "CM000673.1:g.1775364C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 1731940, "referenceAllele": "C", "start": 1731939 } ], "hgvs": [ "NC_000011.8:g.1731940C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 14859, "referenceAllele": "G", "start": 14858 } ], "hgvs": [ "NG_008655.1:g.14859G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001148" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "G", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.7:c.832G>T" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Glu278Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Glu278_Leu412delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740984", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.832G>T" }, "RefSeq": { "hgvs": "NM_001909.5:c.832G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Glu278Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Glu278Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000367196.4:c.727G>T" ], "proteinEffect": { "hgvs": "ENSP00000356164.4:p.Glu243Ter", "hgvsWellDefined": "ENSP00000356164.4:p.Glu243_Leu377delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749955" }, { "coordinates": [ { "allele": "T", "end": 257, "referenceAllele": "G", "start": 256 } ], "hgvs": [ "ENST00000427721.3:c.257G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS755193" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000429746.2:c.727G>T" ], "proteinEffect": { "hgvs": "ENSP00000402586.2:p.Glu243Ter", "hgvsWellDefined": "ENSP00000402586.2:p.Glu243_Leu377delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755290" }, { "coordinates": [ { "allele": "T", "end": 902, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "G", "start": 902, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.6:c.*1-3G>T" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:n.*1-3G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS755471" }, { "coordinates": [ { "allele": "T", "end": 1017, "referenceAllele": "G", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.6:c.949G>T" ], "proteinEffect": { "hgvs": "ENSP00000415036.2:p.Glu317Ter", "hgvsWellDefined": "ENSP00000415036.2:p.Glu317_Leu451delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755690" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000497544.3:n.448G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757867" }, { "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "G", "start": 904 } ], "hgvs": [ "ENST00000636397.1:c.832G>T" ], "proteinEffect": { "hgvs": "ENSP00000489910.1:p.Glu278Ter", "hgvsWellDefined": "ENSP00000489910.1:p.Glu278_Ser582delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysProArgLeuGluTrpProArgProAspValLeuHisGlnCysSerCysProAlaGlyTrpGlyArgArgGlnGlyMetGlnGlyGluLysArgLeuGlyArgGlyTrpLeuGlyGlyArgThrProGlyGlnLeuArgLeuCysSerIleLeuGluLeuGluProHisProAlaArgHisArgAsnCysGlyArgArgSerProProAlaProAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763082" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "G", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636571.1:c.811G>T" ], "proteinEffect": { "hgvs": "ENSP00000490770.1:p.Glu271Ter", "hgvsWellDefined": "ENSP00000490770.1:p.Glu271_Leu405delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763216" }, { "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "G", "start": 926 } ], "hgvs": [ "ENST00000636615.1:c.832G>T" ], "proteinEffect": { "hgvs": "ENSP00000490014.1:p.Glu278Ter", "hgvsWellDefined": "ENSP00000490014.1:p.Glu278_Tyr557delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlnGlyProGlyGlnCysProAlaProLeuGlyAspProAlaSerThrThrAspGlyAlaGlnGluAlaArgValProLeuAspGlyAlaPheTrpIleProArgProProAlaGlySerProLysGlyCysPheAlaCysValSerLysProProAlaLeuGlnAlaProAlaAlaProAlaProGluProSerAlaSerProProMetAlaProThrLeuPheProMetGluSerLysSerSerLysThrAspSerValArgAlaAlaGlyAlaProProAlaCysLysHisLeuAlaGluLysLysThrMetThrAsnProThrThrValIleGluValTyrProAspThrThrGluValAsnAspTyrTyrLeuTrpSerIlePheAsnPheValTyrLeuAsnPheCysCysLeuGlyPheIleAlaLeuAlaTyrSerLeuLysValArgAspLysLysLeuLeuAsnAspLeuAsnGlyAlaValGluAspAlaLysThrAlaArgLeuPheAsnIleThrSerSerAlaLeuAlaAlaSerCysIleIleLeuValPheIlePheLeuArgTyrProLeuThrAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763252" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000636843.1:c.826G>T" ], "proteinEffect": { "hgvs": "ENSP00000490897.1:p.Glu276Ter", "hgvsWellDefined": "ENSP00000490897.1:p.Glu276_Leu410delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763422" }, { "coordinates": [ { "allele": "T", "end": 430, "referenceAllele": "G", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637158.1:n.430G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763652" }, { "coordinates": [ { "allele": "T", "end": 3260, "referenceAllele": "G", "start": 3259 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637381.2:n.3260G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763824" }, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637387.1:c.832G>T" ], "proteinEffect": { "hgvs": "ENSP00000490598.1:p.Glu278Ter", "hgvsWellDefined": "ENSP00000490598.1:p.Glu278_Leu405delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763827" }, { "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "G", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637815.2:c.814G>T" ], "proteinEffect": { "hgvs": "ENSP00000490344.1:p.Glu272Ter", "hgvsWellDefined": "ENSP00000490344.1:p.Glu272_Leu406delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764130" }, { "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637915.1:c.832G>T" ], "proteinEffect": { "hgvs": "ENSP00000490471.1:p.Glu278Ter", "hgvsWellDefined": "ENSP00000490471.1:p.Glu278_Leu409delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764206" }, { "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000637937.1:n.140G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764221" }, { "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000678991.1:c.*693G>T" ], "proteinEffect": { "hgvs": "ENSP00000503019.1:n.*693G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS778626" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "G", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000236671.6:c.832G>T" ], "proteinEffect": { "hgvs": "ENSP00000236671.2:p.Glu278Ter", "hgvsWellDefined": "ENSP00000236671.2:p.Glu278_Leu412delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248971" }, { "coordinates": [ { "allele": "T", "end": 444, "referenceAllele": "G", "start": 443 } ], "hgvs": [ "ENST00000427721.2:c.232G>T" ], "proteinEffect": { "hgvs": "ENSP00000415840.2:p.Glu78Ter", "hgvsWellDefined": "ENSP00000415840.2:p.Glu78_Thr262del" }, "referenceSequence": "http://reg.genome.network/refseq/RS289837" }, { "coordinates": [ { "allele": "T", "end": 163, "referenceAllele": "G", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000429746.1:c.163G>T" ], "proteinEffect": { "hgvs": "ENSP00000402586.1:p.Glu55Ter", "hgvsWellDefined": "ENSP00000402586.1:p.Glu55_Leu189delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290809" }, { "coordinates": [ { "allele": "T", "end": 873, "endIntronDirection": "-", "endIntronOffset": 2, "referenceAllele": "G", "start": 873, "startIntronDirection": "-", "startIntronOffset": 3 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000433655.5:c.*1-3G>T" ], "proteinEffect": { "hgvs": "ENSP00000404902.1:n.*1-3G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS292643" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000438213.5:c.787G>T" ], "proteinEffect": { "hgvs": "ENSP00000415036.1:p.Glu263Ter", "hgvsWellDefined": "ENSP00000415036.1:p.Glu263_Ala299del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294817" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "ENST00000497544.1:n.448G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS333759" }, { "@id": "http://reg.genome.network/allele/PA2580260963", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "G", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.4:c.832G>T" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Glu278Ter", "hgvsWellDefined": "NP_001900.1:p.Glu278_Leu412delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027236" }, { "@id": "http://reg.genome.network/allele/PA2580260963", "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "G", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN002529", "geneNCBI_id": 1509, "geneSymbol": "CTSD", "hgvs": [ "NM_001909.5:c.832G>T" ], "proteinEffect": { "hgvs": "NP_001900.1:p.Glu278Ter", "hgvsWellDefined": "NP_001900.1:p.Glu278_Leu412delinsValAlaSerGlyLeuThrLeuCysLysGluGlyCysGluAlaIleValAspThrGlyThrSerLeuMetValGlyProValAspGluValArgGluLeuGlnLysAlaIleGlyAlaValProLeuIleGlnGlyGluTyrMetIleProCysGluLysValSerThrLeuProAlaIleThrLeuLysLeuGlyGlyLysGlyTyrLysLeuSerProGluAspTyrThrLeuLysValSerGlnAlaGlyLysThrLeuCysLeuSerGlyPheMetGlyMetAspIleProProProSerGlyProLeuTrpIleLeuGlyAspValPheIleGlyArgTyrTyrThrValPheAspArgAspAsnAsnArgValGlyPheAlaGluAlaAlaArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665240", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000236671.7:c.832G>T" }, "RefSeq": { "hgvs": "NM_001909.5:c.832G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000236671.2:p.Glu278Ter" }, "RefSeq": { "hgvs": "NP_001900.1:p.Glu278Ter" } } } } ], "type": "nucleotide" }