{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390379655", "communityStandardTitle": [ "NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3004160[alleleid]", "alleleId": 3004160, "preferredName": "NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2843505", "RCV": [ "RCV003648439" ], "variationId": 2843505 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.74756204C>A?assembly=hg19", "id": "chr14:g.74756204C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.74289501C>A?assembly=hg38", "id": "chr14:g.74289501C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2505238680", "rs": 2505238680 } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 74289501, "referenceAllele": "C", "start": 74289500 } ], "hgvs": [ "NC_000014.9:g.74289501C>A", "CM000676.2:g.74289501C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 74756204, "referenceAllele": "C", "start": 74756203 } ], "hgvs": [ "NC_000014.8:g.74756204C>A", "CM000676.1:g.74756204C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 73825957, "referenceAllele": "C", "start": 73825956 } ], "hgvs": [ "NC_000014.7:g.73825957C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 18564, "referenceAllele": "G", "start": 18563 } ], "hgvs": [ "NG_032875.1:g.18564G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005248" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000356924.9:c.1438G>T" ], "proteinEffect": { "hgvs": "ENSP00000349396.4:p.Glu480Ter", "hgvsWellDefined": "ENSP00000349396.4:p.Glu480_Glu606delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748864", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356924.9:c.1438G>T" }, "RefSeq": { "hgvs": "NM_005050.4:c.1438G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349396.4:p.Glu480Ter" }, "RefSeq": { "hgvs": "NP_005041.1:p.Glu480Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1582, "referenceAllele": "G", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000356924.8:c.1438G>T" ], "proteinEffect": { "hgvs": "ENSP00000349396.4:p.Glu480Ter", "hgvsWellDefined": "ENSP00000349396.4:p.Glu480_Glu606delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263923" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000466822.1:n.320G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS310087" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "G", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000474270.1:c.489G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS315818" }, { "coordinates": [ { "allele": "T", "end": 273, "referenceAllele": "G", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000481348.5:c.273G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321285" }, { "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000481935.5:c.*1139G>T" ], "proteinEffect": { "hgvs": "ENSP00000436782.1:n.*1139G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321751" }, { "coordinates": [ { "allele": "T", "end": 453, "referenceAllele": "G", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000484380.2:n.453G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS323646" }, { "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "G", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000496015.5:n.1023G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332593" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000553486.5:c.*1139G>T" ], "proteinEffect": { "hgvs": "ENSP00000450611.1:n.*1139G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS369891" }, { "coordinates": [ { "allele": "T", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000553745.5:c.*1148G>T" ], "proteinEffect": { "hgvs": "ENSP00000451778.1:n.*1148G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS370101" }, { "coordinates": [ { "allele": "T", "end": 273, "referenceAllele": "G", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "ENST00000556517.1:c.273G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS372286" }, { "@id": "http://reg.genome.network/allele/PA2829575203", "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_005050.3:c.1438G>T" ], "proteinEffect": { "hgvs": "NP_005041.1:p.Glu480Ter", "hgvsWellDefined": "NP_005041.1:p.Glu480_Glu606delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030179" }, { "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "G", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_003256.2:n.1462G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS046236" }, { "coordinates": [ { "allele": "T", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267938.3:c.1346G>T" ], "proteinEffect": { "hgvs": "XP_005267995.1:p.Gly449Val", "hgvsWellDefined": "XP_005267995.1:p.Gly449Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS065555" }, { "coordinates": [ { "allele": "T", "end": 1518, "referenceAllele": "G", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267939.2:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005267996.1:p.Glu342Ter", "hgvsWellDefined": "XP_005267996.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065556" }, { "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "G", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267940.2:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005267997.1:p.Glu342Ter", "hgvsWellDefined": "XP_005267997.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065557" }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "G", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267941.3:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005267998.1:p.Glu342Ter", "hgvsWellDefined": "XP_005267998.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065558" }, { "coordinates": [ { "allele": "T", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267942.3:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005267999.1:p.Glu342Ter", "hgvsWellDefined": "XP_005267999.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065559" }, { "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267946.2:c.961G>T" ], "proteinEffect": { "hgvs": "XP_005268003.1:p.Glu321Ter", "hgvsWellDefined": "XP_005268003.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065560" }, { "coordinates": [ { "allele": "T", "end": 1448, "referenceAllele": "G", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267949.2:c.961G>T" ], "proteinEffect": { "hgvs": "XP_005268006.1:p.Glu321Ter", "hgvsWellDefined": "XP_005268006.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065561" }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267953.2:c.649G>T" ], "proteinEffect": { "hgvs": "XP_005268010.1:p.Glu217Ter", "hgvsWellDefined": "XP_005268010.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065562" }, { "coordinates": [ { "allele": "T", "end": 1402, "referenceAllele": "G", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_006720223.1:c.1177G>T" ], "proteinEffect": { "hgvs": "XP_006720286.1:p.Glu393Ter", "hgvsWellDefined": "XP_006720286.1:p.Glu393_Glu519delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073555" }, { "coordinates": [ { "allele": "T", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_011537041.1:c.1165G>T" ], "proteinEffect": { "hgvs": "XP_011535343.1:p.Glu389Ter", "hgvsWellDefined": "XP_011535343.1:p.Glu389_Glu515delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104011" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_011537042.1:c.961G>T" ], "proteinEffect": { "hgvs": "XP_011535344.1:p.Glu321Ter", "hgvsWellDefined": "XP_011535344.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104012" }, { "coordinates": [ { "allele": "T", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_011537043.1:c.649G>T" ], "proteinEffect": { "hgvs": "XP_011535345.1:p.Glu217Ter", "hgvsWellDefined": "XP_011535345.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS104013" }, { "coordinates": [ { "allele": "T", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_245710.2:n.1431G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS117024" }, { "coordinates": [ { "allele": "T", "end": 1523, "referenceAllele": "G", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_943500.1:n.1523G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS137523" }, { "@id": "http://reg.genome.network/allele/PA2827730032", "coordinates": [ { "allele": "T", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353591.1:c.1312G>T" ], "proteinEffect": { "hgvs": "NP_001340520.1:p.Glu438Ter", "hgvsWellDefined": "NP_001340520.1:p.Glu438_Glu564delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521789" }, { "@id": "http://reg.genome.network/allele/PA2827730252", "coordinates": [ { "allele": "T", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353592.1:c.1312G>T" ], "proteinEffect": { "hgvs": "NP_001340521.1:p.Glu438Ter", "hgvsWellDefined": "NP_001340521.1:p.Glu438_Ala550delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521790" }, { "@id": "http://reg.genome.network/allele/PA2827730449", "coordinates": [ { "allele": "T", "end": 1471, "referenceAllele": "G", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353593.1:c.1177G>T" ], "proteinEffect": { "hgvs": "NP_001340522.1:p.Glu393Ter", "hgvsWellDefined": "NP_001340522.1:p.Glu393_Glu519delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521791" }, { "@id": "http://reg.genome.network/allele/PA2827730633", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "G", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353594.1:c.1126G>T" ], "proteinEffect": { "hgvs": "NP_001340523.1:p.Glu376Ter", "hgvsWellDefined": "NP_001340523.1:p.Glu376_Ala488delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521792" }, { "@id": "http://reg.genome.network/allele/PA2827730815", "coordinates": [ { "allele": "T", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353595.1:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001340524.1:p.Glu342Ter", "hgvsWellDefined": "NP_001340524.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521793" }, { "@id": "http://reg.genome.network/allele/PA2827730997", "coordinates": [ { "allele": "T", "end": 1457, "referenceAllele": "G", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353596.1:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001340525.1:p.Glu342Ter", "hgvsWellDefined": "NP_001340525.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521794" }, { "@id": "http://reg.genome.network/allele/PA2827731152", "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "G", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353597.1:c.973G>T" ], "proteinEffect": { "hgvs": "NP_001340526.1:p.Glu325Ter", "hgvsWellDefined": "NP_001340526.1:p.Glu325_Glu451delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521795" }, { "@id": "http://reg.genome.network/allele/PA2827731326", "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353598.1:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340527.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340527.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521796" }, { "@id": "http://reg.genome.network/allele/PA2827731499", "coordinates": [ { "allele": "T", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353599.1:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340528.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340528.1:p.Glu321_Ala433delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521797" }, { "@id": "http://reg.genome.network/allele/PA2827731669", "coordinates": [ { "allele": "T", "end": 1462, "referenceAllele": "G", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353600.1:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340529.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340529.1:p.Glu321_Ala433delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521798" }, { "@id": "http://reg.genome.network/allele/PA2827731839", "coordinates": [ { "allele": "T", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353601.1:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340530.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340530.1:p.Glu321_Ala433delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521799" }, { "@id": "http://reg.genome.network/allele/PA2827731966", "coordinates": [ { "allele": "T", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353602.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340531.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340531.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521800" }, { "@id": "http://reg.genome.network/allele/PA2827732097", "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "G", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353603.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340532.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340532.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521801" }, { "@id": "http://reg.genome.network/allele/PA2827732229", "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353604.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340533.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340533.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521802" }, { "@id": "http://reg.genome.network/allele/PA2827732359", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353605.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340534.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340534.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521803" }, { "@id": "http://reg.genome.network/allele/PA2827732490", "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "G", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353606.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340535.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340535.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521804" }, { "@id": "http://reg.genome.network/allele/PA2827732619", "coordinates": [ { "allele": "T", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353607.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340536.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340536.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521805" }, { "@id": "http://reg.genome.network/allele/PA2827732746", "coordinates": [ { "allele": "T", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353608.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340537.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340537.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521806" }, { "@id": "http://reg.genome.network/allele/PA2827732875", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353609.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340538.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340538.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521807" }, { "@id": "http://reg.genome.network/allele/PA2827732983", "coordinates": [ { "allele": "T", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353610.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340539.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340539.1:p.Glu217_Pro309delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuValSerGlyGluArgAspProGlnAspProSerProProGlySerThrSerTyrSerProThrTrpTrpGlnGlyGlnArgAlaTrpThrSerArgTrpThrGlyThrGlyMetMetPheCysProArgGlyArgCysAsnGlySerProLeuProAspSerSerThrCysSerArgSerThrGlnCysLeuMetLysProProValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521808" }, { "@id": "http://reg.genome.network/allele/PA2829917188", "coordinates": [ { "allele": "T", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020324.2:c.961G>T" ], "proteinEffect": { "hgvs": "NP_064720.1:p.Glu321Ter", "hgvsWellDefined": "NP_064720.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525965" }, { "@id": "http://reg.genome.network/allele/PA2741969571", "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "G", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020325.2:c.1438G>T" ], "proteinEffect": { "hgvs": "NP_064730.1:p.Glu480Ter", "hgvsWellDefined": "NP_064730.1:p.Glu480_Ala592delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525966" }, { "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "G", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148466.1:n.1398G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531184" }, { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "G", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148467.1:n.1179G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531185" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148468.1:n.1156G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531186" }, { "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "G", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148469.1:n.1403G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531187" }, { "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148470.1:n.1365G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531188" }, { "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "G", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148471.1:n.1403G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531189" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "G", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148472.1:n.1452G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531190" }, { "coordinates": [ { "allele": "T", "end": 1379, "referenceAllele": "G", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148473.1:n.1379G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531191" }, { "coordinates": [ { "allele": "T", "end": 1498, "referenceAllele": "G", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148474.1:n.1498G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531192" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267940.3:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005267997.1:p.Glu342Ter", "hgvsWellDefined": "XP_005267997.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536485" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "G", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_005267942.4:c.1024G>T" ], "proteinEffect": { "hgvs": "XP_005267999.1:p.Glu342Ter", "hgvsWellDefined": "XP_005267999.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536486" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "G", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_011537041.2:c.1165G>T" ], "proteinEffect": { "hgvs": "XP_011535343.1:p.Glu389Ter", "hgvsWellDefined": "XP_011535343.1:p.Glu389_Glu515delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552729" }, { "coordinates": [ { "allele": "T", "end": 1513, "referenceAllele": "G", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021531.2:c.1438G>T" ], "proteinEffect": { "hgvs": "XP_016877020.1:p.Glu480Ter", "hgvsWellDefined": "XP_016877020.1:p.Glu480_Pro572delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuValSerGlyGluArgAspProGlnAspProSerProProGlySerThrSerTyrSerProThrTrpTrpGlnGlyGlnArgAlaTrpThrSerArgTrpThrGlyThrGlyMetMetPheCysProArgGlyArgCysAsnGlySerProLeuProAspSerSerThrCysSerArgSerThrGlnCysLeuMetLysProProValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572707" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "G", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021534.1:c.826G>T" ], "proteinEffect": { "hgvs": "XP_016877023.1:p.Glu276Ter", "hgvsWellDefined": "XP_016877023.1:p.Glu276_Glu402delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572708" }, { "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021539.1:c.649G>T" ], "proteinEffect": { "hgvs": "XP_016877028.1:p.Glu217Ter", "hgvsWellDefined": "XP_016877028.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572709" }, { "coordinates": [ { "allele": "T", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021540.2:c.649G>T" ], "proteinEffect": { "hgvs": "XP_016877029.1:p.Glu217Ter", "hgvsWellDefined": "XP_016877029.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572710" }, { "coordinates": [ { "allele": "T", "end": 1271, "referenceAllele": "G", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021541.2:c.649G>T" ], "proteinEffect": { "hgvs": "XP_016877030.1:p.Glu217Ter", "hgvsWellDefined": "XP_016877030.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572711" }, { "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "G", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_017021542.1:c.649G>T" ], "proteinEffect": { "hgvs": "XP_016877031.1:p.Glu217Ter", "hgvsWellDefined": "XP_016877031.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572712" }, { "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449675.1:c.1051G>T" ], "proteinEffect": { "hgvs": "XP_024305443.1:p.Glu351Ter", "hgvsWellDefined": "XP_024305443.1:p.Glu351_Glu477delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583222" }, { "coordinates": [ { "allele": "T", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449676.1:c.961G>T" ], "proteinEffect": { "hgvs": "XP_024305444.1:p.Glu321Ter", "hgvsWellDefined": "XP_024305444.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583223" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449677.1:c.961G>T" ], "proteinEffect": { "hgvs": "XP_024305445.1:p.Glu321Ter", "hgvsWellDefined": "XP_024305445.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583224" }, { "coordinates": [ { "allele": "T", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449678.1:c.649G>T" ], "proteinEffect": { "hgvs": "XP_024305446.1:p.Glu217Ter", "hgvsWellDefined": "XP_024305446.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583225" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XM_024449679.1:c.649G>T" ], "proteinEffect": { "hgvs": "XP_024305447.1:p.Glu217Ter", "hgvsWellDefined": "XP_024305447.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583226" }, { "coordinates": [ { "allele": "T", "end": 1513, "referenceAllele": "G", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750476.2:n.1513G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597748" }, { "coordinates": [ { "allele": "T", "end": 1421, "referenceAllele": "G", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750478.2:n.1421G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597749" }, { "coordinates": [ { "allele": "T", "end": 1421, "referenceAllele": "G", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750480.2:n.1421G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597750" }, { "coordinates": [ { "allele": "T", "end": 1575, "referenceAllele": "G", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750481.2:n.1575G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597751" }, { "coordinates": [ { "allele": "T", "end": 1448, "referenceAllele": "G", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750482.1:n.1448G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597752" }, { "coordinates": [ { "allele": "T", "end": 1301, "referenceAllele": "G", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_001750484.1:n.1301G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597753" }, { "coordinates": [ { "allele": "T", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_002957565.1:n.1407G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603699" }, { "coordinates": [ { "allele": "T", "end": 1421, "referenceAllele": "G", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_245710.4:n.1421G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606193" }, { "coordinates": [ { "allele": "T", "end": 1513, "referenceAllele": "G", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "XR_943500.3:n.1513G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS613432" }, { "@id": "http://reg.genome.network/allele/PA2829575203", "coordinates": [ { "allele": "T", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_005050.4:c.1438G>T" ], "proteinEffect": { "hgvs": "NP_005041.1:p.Glu480Ter", "hgvsWellDefined": "NP_005041.1:p.Glu480_Glu606delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS666788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356924.9:c.1438G>T" }, "RefSeq": { "hgvs": "NM_005050.4:c.1438G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349396.4:p.Glu480Ter" }, "RefSeq": { "hgvs": "NP_005041.1:p.Glu480Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827730032", "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353591.2:c.1312G>T" ], "proteinEffect": { "hgvs": "NP_001340520.1:p.Glu438Ter", "hgvsWellDefined": "NP_001340520.1:p.Glu438_Glu564delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689797" }, { "@id": "http://reg.genome.network/allele/PA2827730252", "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353592.2:c.1312G>T" ], "proteinEffect": { "hgvs": "NP_001340521.1:p.Glu438Ter", "hgvsWellDefined": "NP_001340521.1:p.Glu438_Ala550delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689798" }, { "@id": "http://reg.genome.network/allele/PA2827730449", "coordinates": [ { "allele": "T", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353593.2:c.1177G>T" ], "proteinEffect": { "hgvs": "NP_001340522.1:p.Glu393Ter", "hgvsWellDefined": "NP_001340522.1:p.Glu393_Glu519delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689799" }, { "@id": "http://reg.genome.network/allele/PA2827730633", "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353594.2:c.1126G>T" ], "proteinEffect": { "hgvs": "NP_001340523.1:p.Glu376Ter", "hgvsWellDefined": "NP_001340523.1:p.Glu376_Ala488delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689800" }, { "@id": "http://reg.genome.network/allele/PA2827730815", "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "G", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353595.2:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001340524.1:p.Glu342Ter", "hgvsWellDefined": "NP_001340524.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689801" }, { "@id": "http://reg.genome.network/allele/PA2827730997", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "G", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353596.2:c.1024G>T" ], "proteinEffect": { "hgvs": "NP_001340525.1:p.Glu342Ter", "hgvsWellDefined": "NP_001340525.1:p.Glu342_Glu468delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689802" }, { "@id": "http://reg.genome.network/allele/PA2827731152", "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "G", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353597.2:c.973G>T" ], "proteinEffect": { "hgvs": "NP_001340526.1:p.Glu325Ter", "hgvsWellDefined": "NP_001340526.1:p.Glu325_Glu451delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689803" }, { "@id": "http://reg.genome.network/allele/PA2827731326", "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353598.2:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340527.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340527.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689804" }, { "@id": "http://reg.genome.network/allele/PA2827731499", "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "G", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353599.2:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340528.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340528.1:p.Glu321_Ala433delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689805" }, { "@id": "http://reg.genome.network/allele/PA2827731669", "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353600.2:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340529.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340529.1:p.Glu321_Ala433delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689806" }, { "@id": "http://reg.genome.network/allele/PA2827731839", "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353601.2:c.961G>T" ], "proteinEffect": { "hgvs": "NP_001340530.1:p.Glu321Ter", "hgvsWellDefined": "NP_001340530.1:p.Glu321_Ala433delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689807" }, { "@id": "http://reg.genome.network/allele/PA2827731966", "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "G", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353602.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340531.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340531.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689808" }, { "@id": "http://reg.genome.network/allele/PA2827732097", "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353603.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340532.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340532.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689809" }, { "@id": "http://reg.genome.network/allele/PA2827732229", "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353604.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340533.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340533.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689810" }, { "@id": "http://reg.genome.network/allele/PA2827732359", "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353605.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340534.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340534.1:p.Glu217_Glu343delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689811" }, { "@id": "http://reg.genome.network/allele/PA2827732490", "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353606.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340535.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340535.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689812" }, { "@id": "http://reg.genome.network/allele/PA2827732619", "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "G", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353607.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340536.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340536.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689813" }, { "@id": "http://reg.genome.network/allele/PA2827732746", "coordinates": [ { "allele": "T", "end": 1220, "referenceAllele": "G", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353608.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340537.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340537.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689814" }, { "@id": "http://reg.genome.network/allele/PA2827732875", "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353609.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340538.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340538.1:p.Glu217_Ala329delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689815" }, { "@id": "http://reg.genome.network/allele/PA2827732983", "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "G", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_001353610.2:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001340539.1:p.Glu217Ter", "hgvsWellDefined": "NP_001340539.1:p.Glu217_Pro309delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuValSerGlyGluArgAspProGlnAspProSerProProGlySerThrSerTyrSerProThrTrpTrpGlnGlyGlnArgAlaTrpThrSerArgTrpThrGlyThrGlyMetMetPheCysProArgGlyArgCysAsnGlySerProLeuProAspSerSerThrCysSerArgSerThrGlnCysLeuMetLysProProValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689816" }, { "@id": "http://reg.genome.network/allele/PA2829917188", "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "G", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020324.3:c.961G>T" ], "proteinEffect": { "hgvs": "NP_064720.1:p.Glu321Ter", "hgvsWellDefined": "NP_064720.1:p.Glu321_Glu447delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698215" }, { "@id": "http://reg.genome.network/allele/PA2741969571", "coordinates": [ { "allele": "T", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NM_020325.3:c.1438G>T" ], "proteinEffect": { "hgvs": "NP_064730.1:p.Glu480Ter", "hgvsWellDefined": "NP_064730.1:p.Glu480_Ala592delinsValTyrProAspSerGlySerAlaAspAspGluArgIleLeuArgPheLeuGluLeuAlaGlyLeuSerAsnLeuValAlaArgThrGluGlyLeuAspGlnGlnValAspTrpAsnTrpTyrAspValLeuSerProGlyGluMetGlnArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698216" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_003256.3:n.1332G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701830" }, { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148466.2:n.1268G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704762" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148467.2:n.1049G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704763" }, { "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "G", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148468.2:n.1026G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704764" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148469.2:n.1273G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704765" }, { "coordinates": [ { "allele": "T", "end": 1235, "referenceAllele": "G", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148470.2:n.1235G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704766" }, { "coordinates": [ { "allele": "T", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148471.2:n.1273G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704767" }, { "coordinates": [ { "allele": "T", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148472.2:n.1322G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704768" }, { "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148473.2:n.1249G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704769" }, { "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "G", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN000068", "geneNCBI_id": 5826, "geneSymbol": "ABCD4", "hgvs": [ "NR_148474.2:n.1368G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704770" } ], "type": "nucleotide" }