{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274053", "communityStandardTitle": [ "NM_000153.4(GALC):c.489G>A (p.Trp163Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186922[alleleid]", "alleleId": 186922, "preferredName": "NM_000153.4(GALC):c.489G>A (p.Trp163Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188860", "RCV": [ "RCV000169212", "RCV001785486" ], "variationId": 188860 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/14-88450831-C-T", "id": "14-88450831-C-T", "variant": "14:88450831 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88450831C>T?assembly=hg19", "id": "chr14:g.88450831C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.87984487C>T?assembly=hg38", "id": "chr14:g.87984487C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/761550284", "rs": 761550284 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-88450831-C-T?dataset=gnomad_r2_1", "id": "14-88450831-C-T", "variant": "14:88450831 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-87984487-C-T?dataset=gnomad_r3", "id": "14-87984487-C-T", "variant": "14:87984487 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-87984487-C-T?dataset=gnomad_r4", "id": "14-87984487-C-T", "variant": "14:87984487 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87984487, "referenceAllele": "C", "start": 87984486 } ], "hgvs": [ "NC_000014.9:g.87984487C>T", "CM000676.2:g.87984487C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 88450831, "referenceAllele": "C", "start": 88450830 } ], "hgvs": [ "NC_000014.8:g.88450831C>T", "CM000676.1:g.88450831C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87520584, "referenceAllele": "C", "start": 87520583 } ], "hgvs": [ "NC_000014.7:g.87520584C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 14077, "referenceAllele": "G", "start": 14076 } ], "hgvs": [ "NG_011853.2:g.14077G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002031" }, { "coordinates": [ { "allele": "A", "end": 14077, "referenceAllele": "G", "start": 14076 } ], "hgvs": [ "NG_011853.3:g.14077G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "G", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.7:c.489G>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Trp163Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Trp163_Arg685delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742114", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.489G>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.489G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Trp163Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Trp163Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.6:c.489G>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Trp163Ter", "hgvsWellDefined": "ENSP00000261304.2:p.Trp163_Arg685delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250712" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393568.8:c.420G>A" ], "proteinEffect": { "hgvs": "ENSP00000377198.4:p.Trp140Ter", "hgvsWellDefined": "ENSP00000377198.4:p.Trp140_Arg662delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275696" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393569.6:c.411G>A" ], "proteinEffect": { "hgvs": "ENSP00000377199.2:p.Trp137Ter", "hgvsWellDefined": "ENSP00000377199.2:p.Trp137_Arg659delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275697" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000474294.6:n.479G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315838" }, { "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000544807.6:c.321G>A" ], "proteinEffect": { "hgvs": "ENSP00000437513.2:p.Trp107Ter", "hgvsWellDefined": "ENSP00000437513.2:p.Trp107_Thr589delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysValAlaGlyArgArgLysLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364761" }, { "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "G", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000554372.5:c.*238G>A" ], "proteinEffect": { "hgvs": "ENSP00000451884.1:n.*238G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS370589" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000554916.5:n.368G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS371008" }, { "coordinates": [ { "allele": "A", "end": 190, "referenceAllele": "G", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000556261.5:n.190G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS372083" }, { "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000556879.5:c.549G>A" ], "proteinEffect": { "hgvs": "ENSP00000452208.1:n.549G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS372568" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "G", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000557316.5:c.489G>A" ], "proteinEffect": { "hgvs": "ENSP00000452314.1:p.Trp163Ter", "hgvsWellDefined": "ENSP00000452314.1:p.Trp163_Glu211delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysValPheGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS372927" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000622264.4:c.479G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS405647" }, { "@id": "http://reg.genome.network/allele/PA274054", "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.3:c.489G>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Trp163Ter", "hgvsWellDefined": "NP_000144.2:p.Trp163_Arg685delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006215" }, { "@id": "http://reg.genome.network/allele/PA2826253798", "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "G", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.1:c.420G>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Trp140Ter", "hgvsWellDefined": "NP_001188330.1:p.Trp140_Arg662delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017332" }, { "@id": "http://reg.genome.network/allele/PA2826254403", "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.1:c.411G>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Trp137Ter", "hgvsWellDefined": "NP_001188331.1:p.Trp137_Arg659delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017333" }, { "coordinates": [ { "allele": "A", "end": 857, "referenceAllele": "G", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.1:c.321G>A" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Trp107Ter", "hgvsWellDefined": "XP_011534920.1:p.Trp107_Arg629delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103603" }, { "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.2:c.321G>A" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Trp107Ter", "hgvsWellDefined": "XP_011534920.1:p.Trp107_Arg629delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552566" }, { "@id": "http://reg.genome.network/allele/PA274054", "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "G", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.4:c.489G>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Trp163Ter", "hgvsWellDefined": "NP_000144.2:p.Trp163_Arg685delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662329", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.489G>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.489G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Trp163Ter" }, "RefSeq": { "hgvs": "NP_000144.2:p.Trp163Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253798", "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.2:c.420G>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Trp140Ter", "hgvsWellDefined": "NP_001188330.1:p.Trp140_Arg662delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714057" }, { "@id": "http://reg.genome.network/allele/PA2826254403", "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.2:c.411G>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Trp137Ter", "hgvsWellDefined": "NP_001188331.1:p.Trp137_Arg659delinsProTyrValAsnLeuGlnLeuThrAlaTyrTyrValValThrTrpIleValGlyAlaLysArgTyrHisAspLeuAspIleAspTyrIleGlyIleTrpAsnGluArgSerTyrAsnAlaAsnTyrIleLysIleLeuArgLysMetLeuAsnTyrGlnGlyLeuGlnArgValLysIleIleAlaSerAspAsnLeuTrpGluSerIleSerAlaSerMetLeuLeuAspAlaGluLeuPheLysValValAspValIleGlyAlaHisTyrProGlyThrHisSerAlaLysAspAlaLysLeuThrGlyLysLysLeuTrpSerSerGluAspPheSerThrLeuAsnSerAspMetGlyAlaGlyCysTrpGlyArgIleLeuAsnGlnAsnTyrIleAsnGlyTyrMetThrSerThrIleAlaTrpAsnLeuValAlaSerTyrTyrGluGlnLeuProTyrGlyArgCysGlyLeuMetThrAlaGlnGluProTrpSerGlyHisTyrValValGluSerProValTrpValSerAlaHisThrThrGlnPheThrGlnProGlyTrpTyrTyrLeuLysThrValGlyHisLeuGluLysGlyGlySerTyrValAlaLeuThrAspGlyLeuGlyAsnLeuThrIleIleIleGluThrMetSerHisLysHisSerLysCysIleArgProPheLeuProTyrPheAsnValSerGlnGlnPheAlaThrPheValLeuLysGlySerPheSerGluIleProGluLeuGlnValTrpTyrThrLysLeuGlyLysThrSerGluArgPheLeuPheLysGlnLeuAspSerLeuTrpLeuLeuAspSerAspGlySerPheThrLeuSerLeuHisGluAspGluLeuPheThrLeuThrThrLeuThrThrGlyArgLysGlySerTyrProLeuProProLysSerGlnProPheProSerThrTyrLysAspAspPheAsnValAspTyrProPhePheSerGluAlaProAsnPheAlaAspGlnThrGlyValPheGluTyrPheThrAsnIleGluAspProGlyGluHisHisPheThrLeuArgGlnValLeuAsnGlnArgProIleThrTrpAlaAlaAspAlaSerAsnThrIleSerIleIleGlyAspTyrAsnTrpThrAsnLeuThrIleLysCysAspValTyrIleGluThrProAspThrGlyGlyValPheIleAlaGlyArgValAsnLysGlyGlyIleLeuIleArgSerAlaArgGlyIlePhePheTrpIlePheAlaAsnGlySerTyrArgValThrGlyAspLeuAlaGlyTrpIleIleTyrAlaLeuGlyArgValGluValThrAlaLysLysTrpTyrThrLeuThrLeuThrIleLysGlyHisPheThrSerGlyMetLeuAsnAspLysSerLeuTrpThrAspIleProValAsnPheProLysAsnGlyTrpAlaAlaIleGlyThrHisSerPheGluPheAlaGlnPheAspAsnPheLeuValGluAlaThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714058" } ], "type": "nucleotide" }