{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339978", "communityStandardTitle": [ "NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17436[alleleid]", "alleleId": 17436, "preferredName": "NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2397", "RCV": [ "RCV000002498", "RCV000421601", "RCV002512678" ], "variationId": 2397 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-131897806-C-T", "id": "6-131897806-C-T", "variant": "6:131897806 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.131897806C>T?assembly=hg19", "id": "chr6:g.131897806C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.131576666C>T?assembly=hg38", "id": "chr6:g.131576666C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104893944", "rs": 104893944 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-131897806-C-T?dataset=gnomad_r2_1", "id": "6-131897806-C-T", "variant": "6:131897806 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-131576666-C-T?dataset=gnomad_r3", "id": "6-131576666-C-T", "variant": "6:131576666 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-131576666-C-T?dataset=gnomad_r4", "id": "6-131576666-C-T", "variant": "6:131576666 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 131576666, "referenceAllele": "C", "start": 131576665 } ], "hgvs": [ "NC_000006.12:g.131576666C>T", "CM000668.2:g.131576666C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 131897806, "referenceAllele": "C", "start": 131897805 } ], "hgvs": [ "NC_000006.11:g.131897806C>T", "CM000668.1:g.131897806C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 131939499, "referenceAllele": "C", "start": 131939498 } ], "hgvs": [ "NC_000006.10:g.131939499C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 8442, "referenceAllele": "C", "start": 8441 } ], "hgvs": [ "NG_007086.2:g.8442C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000466" }, { "coordinates": [ { "allele": "A", "end": 56558, "referenceAllele": "G", "start": 56557 } ], "hgvs": [ "NG_031860.1:g.56558G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004994" }, { "coordinates": [ { "allele": "A", "end": 56558, "referenceAllele": "G", "start": 56557 } ], "hgvs": [ "NG_031860.2:g.56558G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673851" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000368087.8:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000357066.3:p.Arg21Ter", "hgvsWellDefined": "ENSP00000357066.3:p.Arg21_Lys322delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerLeuAlaIleGlySerIleSerGlyHisAlaArgValHisProAspLeuGlyValIleTrpValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368087.8:c.61C>T" }, "RefSeq": { "hgvs": "NM_000045.4:c.61C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357066.3:p.Arg21Ter" }, "RefSeq": { "hgvs": "NP_000036.2:p.Arg21Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 61, "referenceAllele": "C", "start": 60 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000640973.1:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000492623.1:p.Arg21Ter", "hgvsWellDefined": "ENSP00000492623.1:p.Arg21_Lys236del" }, "referenceSequence": "http://reg.genome.network/refseq/RS765757" }, { "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000672052.1:n.308C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773252" }, { "coordinates": [ { "allele": "T", "end": 150, "endIntronDirection": "-", "endIntronOffset": 2444, "referenceAllele": "C", "start": 150, "startIntronDirection": "-", "startIntronOffset": 2445 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000672233.1:c.77-2445C>T" ], "proteinEffect": { "hgvs": "ENSP00000499826.1:n.77-2445C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773313" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000673234.1:c.80C>T" ], "proteinEffect": { "hgvs": "ENSP00000499885.1:p.Thr27Met", "hgvsWellDefined": "ENSP00000499885.1:p.Thr27Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS773626" }, { "coordinates": [ { "allele": "T", "end": 115, "referenceAllele": "C", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000673427.1:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000500160.1:p.Arg21Ter", "hgvsWellDefined": "ENSP00000500160.1:p.Arg21_Lys237delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773675" }, { "coordinates": [ { "allele": "T", "end": 114, "endIntronDirection": "-", "endIntronOffset": 2444, "referenceAllele": "C", "start": 114, "startIntronDirection": "-", "startIntronOffset": 2445 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000275196.5:n.115-2445C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS252603" }, { "coordinates": [ { "allele": "A", "end": 4251, "endIntronDirection": "-", "endIntronOffset": 2370, "referenceAllele": "G", "start": 4251, "startIntronDirection": "-", "startIntronOffset": 2371 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "ENST00000354577.8:c.4096-2371G>A" ], "proteinEffect": { "hgvs": "ENSP00000346588.4:n.4096-2371G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS263173" }, { "coordinates": [ { "allele": "T", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000356962.2:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000349446.2:p.Arg21Ter", "hgvsWellDefined": "ENSP00000349446.2:p.Arg21_Lys330delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnValThrGlnAsnPheLeuIleLeuGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerLeuAlaIleGlySerIleSerGlyHisAlaArgValHisProAspLeuGlyValIleTrpValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263936" }, { "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "C", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000368087.7:c.61C>T" ], "proteinEffect": { "hgvs": "ENSP00000357066.3:p.Arg21Ter", "hgvsWellDefined": "ENSP00000357066.3:p.Arg21_Lys322delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerLeuAlaIleGlySerIleSerGlyHisAlaArgValHisProAspLeuGlyValIleTrpValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266757" }, { "coordinates": [ { "allele": "T", "end": 146, "endIntronDirection": "-", "endIntronOffset": 2444, "referenceAllele": "C", "start": 146, "startIntronDirection": "-", "startIntronOffset": 2445 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000469293.1:n.147-2445C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312006" }, { "coordinates": [ { "allele": "T", "end": 33, "referenceAllele": "C", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000484820.1:n.33C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323985" }, { "coordinates": [ { "allele": "T", "end": 102, "referenceAllele": "C", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "ENST00000498260.1:n.102C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334306" }, { "@id": "http://reg.genome.network/allele/PA339979", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_000045.3:c.61C>T" ], "proteinEffect": { "hgvs": "NP_000036.2:p.Arg21Ter", "hgvsWellDefined": "NP_000036.2:p.Arg21_Lys322delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerLeuAlaIleGlySerIleSerGlyHisAlaArgValHisProAspLeuGlyValIleTrpValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006110" }, { "@id": "http://reg.genome.network/allele/PA2826330398", "coordinates": [ { "allele": "T", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_001244438.1:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001231367.1:p.Arg21Ter", "hgvsWellDefined": "NP_001231367.1:p.Arg21_Lys330delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnValThrGlnAsnPheLeuIleLeuGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerLeuAlaIleGlySerIleSerGlyHisAlaArgValHisProAspLeuGlyValIleTrpValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018678" }, { "coordinates": [ { "allele": "A", "end": 4267, "endIntronDirection": "-", "endIntronOffset": 2370, "referenceAllele": "G", "start": 4267, "startIntronDirection": "-", "startIntronOffset": 2371 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_001270521.1:c.4078-2371G>A" ], "proteinEffect": { "hgvs": "NP_001257450.1:n.4078-2371G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS020343" }, { "coordinates": [ { "allele": "A", "end": 4285, "endIntronDirection": "-", "endIntronOffset": 2370, "referenceAllele": "G", "start": 4285, "startIntronDirection": "-", "startIntronOffset": 2371 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_015979.3:c.4096-2371G>A" ], "proteinEffect": { "hgvs": "NP_057063.2:n.4096-2371G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS034336" }, { "coordinates": [ { "allele": "T", "end": 141, "referenceAllele": "C", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "XM_011535801.1:c.61C>T" ], "proteinEffect": { "hgvs": "XP_011534103.1:p.Arg21Ter", "hgvsWellDefined": "XP_011534103.1:p.Arg21_Lys237delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102803" }, { "coordinates": [ { "allele": "T", "end": 185, "referenceAllele": "C", "start": 184 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "XM_011535801.2:c.61C>T" ], "proteinEffect": { "hgvs": "XP_011534103.1:p.Arg21Ter", "hgvsWellDefined": "XP_011534103.1:p.Arg21_Lys237delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552190" }, { "@id": "http://reg.genome.network/allele/PA339979", "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_000045.4:c.61C>T" ], "proteinEffect": { "hgvs": "NP_000036.2:p.Arg21Ter", "hgvsWellDefined": "NP_000036.2:p.Arg21_Lys322delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerLeuAlaIleGlySerIleSerGlyHisAlaArgValHisProAspLeuGlyValIleTrpValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674675", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368087.8:c.61C>T" }, "RefSeq": { "hgvs": "NM_000045.4:c.61C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357066.3:p.Arg21Ter" }, "RefSeq": { "hgvs": "NP_000036.2:p.Arg21Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826330398", "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_001244438.2:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001231367.1:p.Arg21Ter", "hgvsWellDefined": "NP_001231367.1:p.Arg21_Lys330delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnValThrGlnAsnPheLeuIleLeuGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerLeuAlaIleGlySerIleSerGlyHisAlaArgValHisProAspLeuGlyValIleTrpValAspAlaHisThrAspIleAsnThrProLeuThrThrThrSerGlyAsnLeuHisGlyGlnProValSerPheLeuLeuLysGluLeuLysGlyLysIleProAspValProGlyPheSerTrpValThrProCysIleSerAlaLysAspIleValTyrIleGlyLeuArgAspValAspProGlyGluHisTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680299" }, { "coordinates": [ { "allele": "A", "end": 4270, "endIntronDirection": "-", "endIntronOffset": 2370, "referenceAllele": "G", "start": 4270, "startIntronDirection": "-", "startIntronOffset": 2371 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_001270521.2:c.4078-2371G>A" ], "proteinEffect": { "hgvs": "NP_001257450.1:n.4078-2371G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681041" }, { "@id": "http://reg.genome.network/allele/PA916047435", "coordinates": [ { "allele": "T", "end": 118, "referenceAllele": "C", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NM_001369020.1:c.61C>T" ], "proteinEffect": { "hgvs": "NP_001355949.1:p.Arg21Ter", "hgvsWellDefined": "NP_001355949.1:p.Arg21_Lys237delinsGlyGlyValGluGluGlyProThrValLeuArgLysAlaGlyLeuLeuGluLysLeuLysGluGlnGluCysAspValLysAspTyrGlyAspLeuProPheAlaAspIleProAsnAspSerProPheGlnIleValLysAsnProArgSerValGlyLysAlaSerGluGlnLeuAlaGlyLysValAlaGluValLysLysAsnGlyArgIleSerLeuValLeuGlyGlyAspHisSerTyrIleLeuLysThrLeuGlyIleLysTyrPheSerMetThrGluValAspArgLeuGlyIleGlyLysValMetGluGluThrLeuSerTyrLeuLeuGlyArgLysLysArgProIleHisLeuSerPheAspValAspGlyLeuAspProSerPheThrProAlaThrGlyThrProValValGlyGlyLeuThrTyrArgGluGlyLeuTyrIleThrGluGluIleTyrLysThrGlyLeuLeuSerGlyLeuAspIleMetGluValAsnProSerLeuGlyLysThrProGluGluValThrArgThrValAsnThrAlaValAlaIleThrLeuAlaCysPheGlyLeuAlaArgGluGlyAsnHisLysProIleAspTyrLeuAsnProProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691511" }, { "coordinates": [ { "allele": "A", "end": 4288, "endIntronDirection": "-", "endIntronOffset": 2370, "referenceAllele": "G", "start": 4288, "startIntronDirection": "-", "startIntronOffset": 2371 } ], "gene": "http://reg.genome.network/gene/GN002372", "geneNCBI_id": 9439, "geneSymbol": "MED23", "hgvs": [ "NM_015979.4:c.4096-2371G>A" ], "proteinEffect": { "hgvs": "NP_057063.2:n.4096-2371G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS697639" }, { "coordinates": [ { "allele": "T", "end": 114, "endIntronDirection": "-", "endIntronOffset": 2444, "referenceAllele": "C", "start": 114, "startIntronDirection": "-", "startIntronOffset": 2445 } ], "gene": "http://reg.genome.network/gene/GN000663", "geneNCBI_id": 383, "geneSymbol": "ARG1", "hgvs": [ "NR_160934.1:n.115-2445C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705240" } ], "type": "nucleotide" }