{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404314371", "communityStandardTitle": [ "NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2930340[alleleid]", "alleleId": 2930340, "preferredName": "NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2773062", "RCV": [ "RCV003499499" ], "variationId": 2773062 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13002318C>T?assembly=hg19", "id": "chr19:g.13002318C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12891504C>T?assembly=hg38", "id": "chr19:g.12891504C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2512563894", "rs": 2512563894 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12891504, 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"ENSP00000468125.1:p.Gln37_His86delinsSerGlnLeuAlaLysCysLysAspLeuTrpSerHisArgValSerAlaAlaProValGlnLeuSerValCysArgArgTrpThrLeuSerGlnAsnProArgAlaAlaArgAlaGlyTrpGlnGlyArgGlyGlnGlyGlnArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392192" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "C", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590530.5:c.109C>T" ], "proteinEffect": { "hgvs": "ENSP00000468452.1:p.Gln37Ter", "hgvsWellDefined": "ENSP00000468452.1:p.Gln37_Lys204delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluGluSerGlySerValAlaGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnIleLeuProProArgLeuLysArgPheSerCysLeuHisProSerSerSerTrpAspTyrArgIleTrpLeuCysTrpGlyPheValCysGlyLeuTrpAlaProGlyProArgAlaGlyAlaGlyGlyGlnTrpLeuGlnValGlyAspGluCysProValLeuProArgHisAlaProTyrLeuCysLeuTrpGlnArgGlyThrAlaAlaGluValProAlaProAlaGlyGlnGlyGlyAlaProGlyLeuLeuArgAlaHisArgAlaGlnGlnArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392249" }, { "coordinates": [ { "allele": "T", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590627.5:n.166C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392321" }, { "coordinates": [ { "allele": "T", "end": 145, "referenceAllele": "C", "start": 144 } ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006221" }, { "@id": "http://reg.genome.network/allele/PA2741940420", "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.3:c.109C>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Gln37Ter", "hgvsWellDefined": 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"XP_006722784.1:p.Gln37_Arg442delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074704" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.1:c.109C>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Gln37Ter", "hgvsWellDefined": "XP_011526201.1:p.Gln37_Ser446delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094980" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.1:c.109C>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Gln37Ter", "hgvsWellDefined": "XP_011526202.1:p.Gln37_Trp443delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094981" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.2:c.109C>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Gln37Ter", "hgvsWellDefined": "XP_011526201.1:p.Gln37_Ser446delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548874" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.2:c.109C>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Gln37Ter", "hgvsWellDefined": "XP_011526202.1:p.Gln37_Trp443delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548875" }, { "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_017026580.1:c.109C>T" ], "proteinEffect": { "hgvs": "XP_016882069.1:p.Gln37Ter", "hgvsWellDefined": "XP_016882069.1:p.Gln37_Arg442delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576706" }, { "@id": "http://reg.genome.network/allele/PA2825069653", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.4:c.109C>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Gln37Ter", "hgvsWellDefined": "NP_000150.1:p.Gln37_Lys438delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662332", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.109C>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.109C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Gln37Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Gln37Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741940420", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.4:c.109C>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Gln37Ter", "hgvsWellDefined": "NP_039663.1:p.Gln37_Leu428delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697153" }, { "@id": "http://reg.genome.network/allele/PA2741940420", "coordinates": [ { "allele": "T", "end": 186, "referenceAllele": "C", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.5:c.109C>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Gln37Ter", "hgvsWellDefined": "NP_039663.1:p.Gln37_Leu428delinsSerGlnLeuAlaLysSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727927" } ], "type": "nucleotide" }