{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397083621", "communityStandardTitle": [ "NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036336[alleleid]", "alleleId": 1036336, "preferredName": "NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048458", "RCV": [ "RCV001578559" ], "variationId": 1048458 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88904154G>A?assembly=hg19", "id": "chr16:g.88904154G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88837746G>A?assembly=hg38", "id": "chr16:g.88837746G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2143002464", "rs": 2143002464 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-88837746-G-A?dataset=gnomad_r4", "id": "16-88837746-G-A", "variant": "16:88837746 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 88837746, "referenceAllele": "G", "start": 88837745 } ], "hgvs": [ "NC_000016.10:g.88837746G>A", "CM000678.2:g.88837746G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 88904154, "referenceAllele": "G", "start": 88904153 } ], "hgvs": [ "NC_000016.9:g.88904154G>A", "CM000678.1:g.88904154G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 87431655, "referenceAllele": "G", "start": 87431654 } ], "hgvs": [ "NC_000016.8:g.87431655G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 24221, "referenceAllele": "C", "start": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS377035" }, { "coordinates": [ { "allele": "T", "end": 30, "referenceAllele": "C", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000562931.5:n.30C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377098" }, { "coordinates": [ { "allele": "T", "end": 144, "referenceAllele": "C", "start": 143 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000566563.1:n.144C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS379525" }, { "coordinates": [ { "allele": "T", "end": 247, "endIntronDirection": "-", "endIntronOffset": 1478, "referenceAllele": "C", "start": 247, "startIntronDirection": "-", "startIntronOffset": 1479 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000567525.5:c.248-1479C>T" ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006568" }, { "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "C", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.2:c.442C>T" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Gln148Ter", "hgvsWellDefined": "XP_005256358.1:p.Gln148_Pro575delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061259" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256302.1:c.460C>T" ], "proteinEffect": { "hgvs": "XP_005256359.1:p.Gln154Ter", "hgvsWellDefined": "XP_005256359.1:p.Gln154_His528delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061260" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.1:c.460C>T" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Gln154Ter", "hgvsWellDefined": "XP_011521284.1:p.Gln154_Pro581delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090123" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522984.1:c.460C>T" ], "proteinEffect": { "hgvs": "XP_011521286.1:p.Gln154Ter", "hgvsWellDefined": "XP_011521286.1:p.Gln154_Thr508delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090124" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.1:c.-114C>T" ], "proteinEffect": { "hgvs": "NP_001310472.1:n.-114C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS515441" }, { "@id": "http://reg.genome.network/allele/PA2499249092", "coordinates": [ { "allele": "T", "end": 705, "referenceAllele": "C", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.1:c.460C>T" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Gln154Ter", "hgvsWellDefined": "NP_001310473.1:p.Gln154_His528delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515442" }, { "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "C", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.3:c.442C>T" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Gln148Ter", "hgvsWellDefined": "XP_005256358.1:p.Gln148_Pro575delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534454" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.2:c.460C>T" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Gln154Ter", "hgvsWellDefined": "XP_011521284.1:p.Gln154_Pro581delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546838" }, { "coordinates": [ { "allele": "T", "end": 2862, "referenceAllele": "C", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023111.2:c.460C>T" ], "proteinEffect": { "hgvs": "XP_016878600.1:p.Gln154Ter", "hgvsWellDefined": "XP_016878600.1:p.Gln154_Leu511delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetGlyProCysAspAspLeuGlnThrProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573926" }, { "coordinates": [ { "allele": "T", "end": 2862, "referenceAllele": "C", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023112.2:c.460C>T" ], "proteinEffect": { "hgvs": "XP_016878601.1:p.Gln154Ter", "hgvsWellDefined": "XP_016878601.1:p.Gln154_Thr508delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573927" }, { "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "C", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023113.1:c.-114C>T" ], "proteinEffect": { "hgvs": "XP_016878602.1:n.-114C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573928" }, { "@id": "http://reg.genome.network/allele/PA2825204416", "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.5:c.442C>T" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Gln148Ter", "hgvsWellDefined": "NP_000503.1:p.Gln148_His522delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662466", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.442C>T" }, "RefSeq": { "hgvs": "NM_000512.5:c.442C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Gln148Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Gln148Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.2:c.-114C>T" ], "proteinEffect": { "hgvs": "NP_001310472.1:n.-114C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS686042" }, { "@id": "http://reg.genome.network/allele/PA2499249092", "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.2:c.460C>T" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Gln154Ter", "hgvsWellDefined": "NP_001310473.1:p.Gln154_His528delinsPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686043" } ], "type": "nucleotide" }