{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344151", "communityStandardTitle": [ "NM_003977.4(AIP):c.70G>T (p.Glu24Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49618[alleleid]", "alleleId": 49618, "preferredName": "NM_003977.4(AIP):c.70G>T (p.Glu24Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41196", "RCV": [ "RCV000034095", "RCV001390426" ], "variationId": 41196 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.67250699G>T?assembly=hg19", "id": "chr11:g.67250699G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.67483228G>T?assembly=hg38", "id": "chr11:g.67483228G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267606568", "rs": 267606568 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 67483228, "referenceAllele": "G", "start": 67483227 } ], "hgvs": [ "NC_000011.10:g.67483228G>T", "CM000673.2:g.67483228G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 67250699, "referenceAllele": "G", "start": 67250698 } ], "hgvs": [ "NC_000011.9:g.67250699G>T", "CM000673.1:g.67250699G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 67007275, "referenceAllele": "G", "start": 67007274 } ], "hgvs": [ "NC_000011.8:g.67007275G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 5195, "referenceAllele": "G", "start": 5194 } ], "hgvs": [ "NG_008969.1:g.5195G>T", "LRG_460:g.5195G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001340" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000525341.2:c.47G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825703" }, { "coordinates": [ { "allele": "T", "end": 188, "referenceAllele": "G", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000528641.7:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000434982.3:p.Glu24Ter", "hgvsWellDefined": "ENSP00000434982.3:p.Glu24_His267delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825755" }, { "coordinates": [ { "allele": "T", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000682324.1:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000508017.1:p.Glu24Ter", "hgvsWellDefined": "ENSP00000508017.1:p.Glu24Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827316" }, { "coordinates": [ { "allele": "T", "end": 74, "referenceAllele": "G", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000682659.1:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000507351.1:p.Glu24Ter", "hgvsWellDefined": "ENSP00000507351.1:p.Glu24_His207delinsLeuProAspPheGlnAspGlyThrLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827648" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "G", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000682699.1:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000507935.1:p.Glu24Ter", "hgvsWellDefined": "ENSP00000507935.1:p.Glu24Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827688" }, { "coordinates": [ { "allele": "T", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000683237.1:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000507343.1:p.Glu24Ter", "hgvsWellDefined": "ENSP00000507343.1:p.Glu24_Gly283delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828219" }, { "coordinates": [ { "allele": "T", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000684006.1:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000507269.1:p.Glu24Ter", "hgvsWellDefined": "ENSP00000507269.1:p.Glu24_Gly282delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828968" }, { "coordinates": [ { "allele": "T", "end": 161, "referenceAllele": "G", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000684657.1:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000507961.1:p.Glu24Ter", "hgvsWellDefined": "ENSP00000507961.1:p.Glu24_His270delinsLeuProAspPheGlnAspGlyThrLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829608" }, { "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000279146.8:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000279146.3:p.Glu24Ter", "hgvsWellDefined": "ENSP00000279146.3:p.Glu24_His330delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743525", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000279146.8:c.70G>T" }, "RefSeq": { "hgvs": "NM_003977.4:c.70G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000279146.3:p.Glu24Ter" }, "RefSeq": { "hgvs": "NP_003968.3:p.Glu24Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 188, "referenceAllele": "G", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000279146.7:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000279146.3:p.Glu24Ter", "hgvsWellDefined": "ENSP00000279146.3:p.Glu24_His330delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252866" }, { "coordinates": [ { "allele": "T", "end": 188, "referenceAllele": "G", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000528641.6:c.70G>T" ], "proteinEffect": { "hgvs": "ENSP00000434982.2:p.Glu24Ter", "hgvsWellDefined": "ENSP00000434982.2:p.Glu24Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS354152" }, { "coordinates": [ { "allele": "T", "end": 180, "referenceAllele": "G", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "ENST00000529797.1:n.180G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355150" }, { "@id": "http://reg.genome.network/allele/PA2826875740", "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302960.1:c.70G>T" ], "proteinEffect": { "hgvs": "NP_001289889.1:p.Glu24Ter", "hgvsWellDefined": "NP_001289889.1:p.Glu24_Gly283delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025377" }, { "@id": "http://reg.genome.network/allele/PA344154", "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_003977.3:c.70G>T" ], "proteinEffect": { "hgvs": "NP_003968.3:p.Glu24Ter", "hgvsWellDefined": "NP_003968.3:p.Glu24_His330delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029179" }, { "coordinates": [ { "allele": "T", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "XM_024448761.1:c.70G>T" ], "proteinEffect": { "hgvs": "XP_024304529.1:p.Glu24Ter", "hgvsWellDefined": "XP_024304529.1:p.Glu24_His330delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582329" }, { "@id": "http://reg.genome.network/allele/PA344154", "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_003977.4:c.70G>T" ], "proteinEffect": { "hgvs": "NP_003968.3:p.Glu24Ter", "hgvsWellDefined": "NP_003968.3:p.Glu24_His330delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666271", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000279146.8:c.70G>T" }, "RefSeq": { "hgvs": "NM_003977.4:c.70G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000279146.3:p.Glu24Ter" }, "RefSeq": { "hgvs": "NP_003968.3:p.Glu24Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826875740", "coordinates": [ { "allele": "T", "end": 203, "referenceAllele": "G", "start": 202 } ], "gene": "http://reg.genome.network/gene/GN000358", "geneNCBI_id": 9049, "geneSymbol": "AIP", "hgvs": [ "NM_001302960.2:c.70G>T" ], "proteinEffect": { "hgvs": "NP_001289889.1:p.Glu24Ter", "hgvsWellDefined": "NP_001289889.1:p.Glu24_Gly283delinsLeuProAspPheGlnAspGlyThrLysAlaThrPheHisTyrArgThrLeuHisSerAspAspGluGlyThrValLeuAspAspSerArgAlaArgGlyLysProMetGluLeuIleIleGlyLysLysPheLysLeuProValTrpGluThrIleValCysThrMetArgGluGlyGluIleAlaGlnPheLeuCysAspIleLysHisValValLeuTyrProLeuValAlaLysSerLeuArgAsnIleAlaValGlyLysAspProLeuGluGlyGlnArgHisCysCysGlyValAlaGlnMetArgGluHisSerSerLeuGlyHisAlaAspLeuAspAlaLeuGlnGlnAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683502" } ], "type": "nucleotide" }