{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA27527921", "communityStandardTitle": [ "NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=628341[alleleid]", "alleleId": 628341, "preferredName": "NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/661058", "RCV": [ "RCV000818392" ], "variationId": 661058 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.100358083C>G?assembly=hg19", "id": "chr1:g.100358083C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.99892527C>G?assembly=hg38", "id": "chr1:g.99892527C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/774926455", "rs": 774926455 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-99892527-C-G?dataset=gnomad_r4", "id": "1-99892527-C-G", "variant": "1:99892527 C / G" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 99892527, "referenceAllele": "C", "start": 99892526 } ], "hgvs": [ "NC_000001.11:g.99892527C>G", "CM000663.2:g.99892527C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 100358083, "referenceAllele": "C", "start": 100358082 } ], "hgvs": [ "NC_000001.10:g.100358083C>G", "CM000663.1:g.100358083C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 100130671, "referenceAllele": "C", "start": 100130670 } ], "hgvs": [ "NC_000001.9:g.100130671C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 47444, "referenceAllele": "C", "start": 47443 } ], "hgvs": [ "NG_012865.1:g.47444C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3302, "referenceAllele": "C", "start": 3301 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361915.8:c.3179C>G" ], "proteinEffect": { "hgvs": "ENSP00000355106.3:p.Ser1060Ter", "hgvsWellDefined": "ENSP00000355106.3:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749563", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.3179C>G" }, "RefSeq": { "hgvs": "NM_000642.3:c.3179C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Ser1060Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Ser1060Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000637337.1:n.3390C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763793" }, { "coordinates": [ { "allele": "G", "end": 3657, "referenceAllele": "C", "start": 3656 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000294724.8:c.3179C>G" ], "proteinEffect": { "hgvs": "ENSP00000294724.4:p.Ser1060Ter", "hgvsWellDefined": "ENSP00000294724.4:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253994" }, { "coordinates": [ { "allele": "G", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361302.7:c.3131C>G" ], "proteinEffect": { "hgvs": "ENSP00000354971.3:p.Ser1044Ter", "hgvsWellDefined": "ENSP00000354971.3:p.Ser1044_Leu1516delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265423" }, { "coordinates": [ { "allele": "G", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361522.4:c.3128C>G" ], "proteinEffect": { "hgvs": "ENSP00000354635.4:p.Ser1043Ter", "hgvsWellDefined": "ENSP00000354635.4:p.Ser1043_Leu1515delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265519" }, { "coordinates": [ { "allele": "G", "end": 3579, "referenceAllele": "C", "start": 3578 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000361915.7:c.3179C>G" ], "proteinEffect": { "hgvs": "ENSP00000355106.3:p.Ser1060Ter", "hgvsWellDefined": "ENSP00000355106.3:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265709" }, { "coordinates": [ { "allele": "G", "end": 3131, "referenceAllele": "C", "start": 3130 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370161.6:c.3131C>G" ], "proteinEffect": { "hgvs": "ENSP00000359180.2:p.Ser1044Ter", "hgvsWellDefined": "ENSP00000359180.2:p.Ser1044_Leu1516delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267908" }, { "coordinates": [ { "allele": "G", "end": 3377, "referenceAllele": "C", "start": 3376 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370163.7:c.3179C>G" ], "proteinEffect": { "hgvs": "ENSP00000359182.3:p.Ser1060Ter", "hgvsWellDefined": "ENSP00000359182.3:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267910" }, { "coordinates": [ { "allele": "G", "end": 3317, "referenceAllele": "C", "start": 3316 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "ENST00000370165.7:c.3179C>G" ], "proteinEffect": { "hgvs": "ENSP00000359184.3:p.Ser1060Ter", "hgvsWellDefined": "ENSP00000359184.3:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267911" }, { "@id": "http://reg.genome.network/allele/PA2825007055", "coordinates": [ { "allele": "G", "end": 3657, "referenceAllele": "C", "start": 3656 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000028.2:c.3179C>G" ], "proteinEffect": { "hgvs": "NP_000019.2:p.Ser1060Ter", "hgvsWellDefined": "NP_000019.2:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006093" }, { "@id": "http://reg.genome.network/allele/PA2825218619", "coordinates": [ { "allele": "G", "end": 3579, "referenceAllele": "C", "start": 3578 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.2:c.3179C>G" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Ser1060Ter", "hgvsWellDefined": "NP_000633.2:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006693" }, { "@id": "http://reg.genome.network/allele/PA2825224050", "coordinates": [ { "allele": "G", "end": 3377, "referenceAllele": "C", "start": 3376 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000643.2:c.3179C>G" ], "proteinEffect": { "hgvs": "NP_000634.2:p.Ser1060Ter", "hgvsWellDefined": "NP_000634.2:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006694" }, { "@id": "http://reg.genome.network/allele/PA915963244", "coordinates": [ { "allele": "G", "end": 3317, "referenceAllele": "C", "start": 3316 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000644.2:c.3179C>G" ], "proteinEffect": { "hgvs": "NP_000635.2:p.Ser1060Ter", "hgvsWellDefined": "NP_000635.2:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006695" }, { "coordinates": [ { "allele": "G", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000645.2:c.3128C>G" ], "proteinEffect": { "hgvs": "NP_000636.2:p.Ser1043Ter", "hgvsWellDefined": "NP_000636.2:p.Ser1043_Leu1515delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006696" }, { "@id": "http://reg.genome.network/allele/PA2825233729", "coordinates": [ { "allele": "G", "end": 3390, "referenceAllele": "C", "start": 3389 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000646.2:c.3131C>G" ], "proteinEffect": { "hgvs": "NP_000637.2:p.Ser1044Ter", "hgvsWellDefined": "NP_000637.2:p.Ser1044_Leu1516delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006697" }, { "coordinates": [ { "allele": "G", "end": 3272, "referenceAllele": "C", "start": 3271 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.1:c.3179C>G" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Ser1060Ter", "hgvsWellDefined": "XP_005270614.1:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066566" }, { "coordinates": [ { "allele": "G", "end": 3272, "referenceAllele": "C", "start": 3271 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_005270557.2:c.3179C>G" ], "proteinEffect": { "hgvs": "XP_005270614.1:p.Ser1060Ter", "hgvsWellDefined": "XP_005270614.1:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536956" }, { "coordinates": [ { "allele": "G", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "XM_017000501.2:c.1439C>G" ], "proteinEffect": { "hgvs": "XP_016855990.1:p.Ser480Ter", "hgvsWellDefined": "XP_016855990.1:p.Ser480_Leu952delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556866" }, { "@id": "http://reg.genome.network/allele/PA2825218619", "coordinates": [ { "allele": "G", "end": 3302, "referenceAllele": "C", "start": 3301 } ], "gene": "http://reg.genome.network/gene/GN000321", "geneNCBI_id": 178, "geneSymbol": "AGL", "hgvs": [ "NM_000642.3:c.3179C>G" ], "proteinEffect": { "hgvs": "NP_000633.2:p.Ser1060Ter", "hgvsWellDefined": "NP_000633.2:p.Ser1060_Leu1532delinsProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662520", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000361915.8:c.3179C>G" }, "RefSeq": { "hgvs": "NM_000642.3:c.3179C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355106.3:p.Ser1060Ter" }, "RefSeq": { "hgvs": "NP_000633.2:p.Ser1060Ter" } } } } ], "type": "nucleotide" }