{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA278633213", "communityStandardTitle": [ "NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426898[alleleid]", "alleleId": 426898, "preferredName": "NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433300", "RCV": [ "RCV000499322", "RCV001591134" ], "variationId": 433300 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.16259698G>A?assembly=hg19", "id": "chr16:g.16259698G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.16165841G>A?assembly=hg38", "id": "chr16:g.16165841G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/72653705", "rs": 72653705 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-16259698-G-A?dataset=gnomad_r2_1", "id": "16-16259698-G-A", "variant": "16:16259698 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-16165841-G-A?dataset=gnomad_r3", "id": "16-16165841-G-A", "variant": "16:16165841 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-16165841-G-A?dataset=gnomad_r4", "id": "16-16165841-G-A", "variant": "16:16165841 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 16165841, "referenceAllele": "G", "start": 16165840 } ], "hgvs": [ "NC_000016.10:g.16165841G>A", "CM000678.2:g.16165841G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 16259698, "referenceAllele": "G", "start": 16259697 } ], "hgvs": [ "NC_000016.9:g.16259698G>A", "CM000678.1:g.16259698G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 16167199, "referenceAllele": "G", "start": 16167198 } ], "hgvs": [ "NC_000016.8:g.16167199G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 62631, "referenceAllele": "C", "start": 62630 } ], "hgvs": [ "NG_007558.2:g.62631C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000648" }, { "coordinates": [ { "allele": "T", "end": 62777, "referenceAllele": "C", "start": 62776 } ], "hgvs": [ "NG_007558.3:g.62777C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS733313" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3148, "referenceAllele": "C", "start": 3147 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.5:c.3088C>T" ], "proteinEffect": { "hgvs": "ENSP00000483331.2:p.Arg1030Ter", "hgvsWellDefined": "ENSP00000483331.2:p.Arg1030_Gly1296delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826576" }, { "coordinates": [ { "allele": "T", "end": 3148, "referenceAllele": "C", "start": 3147 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.12:c.3088C>T" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Arg1030Ter", "hgvsWellDefined": "ENSP00000205557.7:p.Arg1030_Val1503delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740175", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.3088C>T" }, "RefSeq": { "hgvs": "NM_001171.6:c.3088C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Arg1030Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Arg1030Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 103, "referenceAllele": "C", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000640696.1:c.103C>T" ], "proteinEffect": { "hgvs": "ENSP00000492197.1:p.Arg35Ter", "hgvsWellDefined": "ENSP00000492197.1:p.Arg35_Val441delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuProLeuTrpProSerCysHisCysPheSerSerThrLeuGlyPheArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765624" }, { "coordinates": [ { "allele": "T", "end": 3118, "referenceAllele": "C", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000205557.11:c.3088C>T" ], "proteinEffect": { "hgvs": "ENSP00000205557.7:p.Arg1030Ter", "hgvsWellDefined": "ENSP00000205557.7:p.Arg1030_Val1503delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247821" }, { "coordinates": [ { "allele": "T", "end": 2913, "referenceAllele": "C", "start": 2912 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000456970.6:c.2913C>T" ], "proteinEffect": { "hgvs": "ENSP00000405002.2:n.2913C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS303727" }, { "coordinates": [ { "allele": "T", "end": 2950, "referenceAllele": "C", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "ENST00000622290.4:c.*297C>T" ], "proteinEffect": { "hgvs": "ENSP00000483331.1:n.*297C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405655" }, { "@id": "http://reg.genome.network/allele/PA645510869", "coordinates": [ { "allele": "T", "end": 3125, "referenceAllele": "C", "start": 3124 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.5:c.3088C>T" ], "proteinEffect": { "hgvs": "NP_001162.4:p.Arg1030Ter", "hgvsWellDefined": "NP_001162.4:p.Arg1030_Val1503delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015270" }, { "coordinates": [ { "allele": "T", "end": 3285, "referenceAllele": "C", "start": 3284 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.1:c.3055C>T" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Arg1019Ter", "hgvsWellDefined": "XP_011520781.1:p.Arg1019_Val1492delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089630" }, { "coordinates": [ { "allele": "T", "end": 3073, "referenceAllele": "C", "start": 3072 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522480.1:c.2746C>T" ], "proteinEffect": { "hgvs": "XP_011520782.1:p.Arg916Ter", "hgvsWellDefined": "XP_011520782.1:p.Arg916_Val1389delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089631" }, { "coordinates": [ { "allele": "T", "end": 3258, "referenceAllele": "C", "start": 3257 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.1:c.2746C>T" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Arg916Ter", "hgvsWellDefined": "XP_011520783.1:p.Arg916_Val1389delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS520461" }, { "coordinates": [ { "allele": "T", "end": 2950, "referenceAllele": "C", "start": 2949 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NR_147784.1:n.2950C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530836" }, { "coordinates": [ { "allele": "T", "end": 3236, "referenceAllele": "C", "start": 3235 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522479.2:c.3055C>T" ], "proteinEffect": { "hgvs": "XP_011520781.1:p.Arg1019Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546607" }, { "coordinates": [ { "allele": "T", "end": 3271, "referenceAllele": "C", "start": 3270 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_011522481.3:c.2746C>T" ], "proteinEffect": { "hgvs": "XP_011520783.1:p.Arg916Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546608" }, { "coordinates": [ { "allele": "T", "end": 3101, "referenceAllele": "C", "start": 3100 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023212.1:c.2920C>T" ], "proteinEffect": { "hgvs": "XP_016878701.1:p.Arg974Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574012" }, { "coordinates": [ { "allele": "T", "end": 3270, "referenceAllele": "C", "start": 3269 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_017023214.1:c.3088C>T" ], "proteinEffect": { "hgvs": "XP_016878703.1:p.Arg1030Ter", "hgvsWellDefined": "XP_016878703.1:p.Arg1030_Cys1166delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnValAlaCysGlyGlnCysGlyAlaProGlyGluTrpProGlyValCysSerCysHisValCysCysAlaGluGlnSerProProGlnCysTrpProArgGlyLeuLeuCysLeuCysCysProProGlyThrProHisIleProLysLeuGlyLeuArgAspArgGlnArgGlnArgLeuSerAspProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574013" }, { "coordinates": [ { "allele": "T", "end": 3307, "referenceAllele": "C", "start": 3306 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XM_024450261.1:c.3124C>T" ], "proteinEffect": { "hgvs": "XP_024306029.1:p.Arg1042Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS583801" }, { "coordinates": [ { "allele": "T", "end": 3269, "referenceAllele": "C", "start": 3268 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.2:n.3269C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610311" }, { "coordinates": [ { "allele": "T", "end": 3269, "referenceAllele": "C", "start": 3268 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.3:n.3269C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610312" }, { "coordinates": [ { "allele": "T", "end": 3269, "referenceAllele": "C", "start": 3268 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.3269C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "@id": "http://reg.genome.network/allele/PA2826010751", "coordinates": [ { "allele": "T", "end": 3148, "referenceAllele": "C", "start": 3147 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.3088C>T" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Arg1030Ter", "hgvsWellDefined": "NP_001162.5:p.Arg1030_Val1503delinsSerProIleSerPhePheGluArgThrProIleGlyHisLeuLeuAsnArgPheSerLysGluThrAspThrValAspValAspIleProAspLysLeuArgSerLeuLeuMetTyrAlaPheGlyLeuLeuGluValSerLeuValValAlaValAlaThrProLeuAlaThrValAlaIleLeuProLeuPheLeuLeuTyrAlaGlyPheGlnSerLeuTyrValValSerSerCysGlnLeuArgArgLeuGluSerAlaSerTyrSerSerValCysSerHisMetAlaGluThrPheGlnGlySerThrValValArgAlaPheArgThrGlnAlaProPheValAlaGlnAsnAsnAlaArgValAspGluSerGlnArgIleSerPheProArgLeuValAlaAspArgTrpLeuAlaAlaAsnValGluLeuLeuGlyAsnGlyLeuValPheAlaAlaAlaThrCysAlaValLeuSerLysAlaHisLeuSerAlaGlyLeuValGlyPheSerValSerAlaAlaLeuGlnValThrGlnThrLeuGlnTrpValValArgAsnTrpThrAspLeuGluAsnSerIleValSerValGluArgMetGlnAspTyrAlaTrpThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.3088C>T" }, "RefSeq": { "hgvs": "NM_001171.6:c.3088C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Arg1030Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Arg1030Ter" } } } } ], "type": "nucleotide" }