{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA645372477", "communityStandardTitle": [ "NM_170707.4(LMNA):c.790_792del (p.Glu264del)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=427646[alleleid]", "alleleId": 427646, "preferredName": "NM_170707.4(LMNA):c.790_792del (p.Glu264del)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/435776", "RCV": [ "RCV000503550", "RCV002527264" ], "variationId": 435776 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156104746_156104748del?assembly=hg19", "id": "chr1:g.156104746_156104748del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156134955_156134957del?assembly=hg38", "id": "chr1:g.156134955_156134957del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553265369", "rs": 1553265369 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "", "end": 156134957, "referenceAllele": "GAG", "start": 156134954 } ], "hgvs": [ "NC_000001.11:g.156134955_156134957del", "CM000663.2:g.156134955_156134957del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "", "end": 156104748, "referenceAllele": "GAG", "start": 156104745 } ], "hgvs": [ "NC_000001.10:g.156104746_156104748del", "CM000663.1:g.156104746_156104748del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "", "end": 154371372, "referenceAllele": "GAG", "start": 154371369 } ], "hgvs": [ "NC_000001.9:g.154371370_154371372del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "", "end": 57385, "referenceAllele": "GAG", "start": 57382 } ], "hgvs": [ "NG_008692.2:g.57383_57385del", "LRG_254:g.57383_57385del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001170" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 543, "referenceAllele": "GAG", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.7:c.232_234del" ], "proteinEffect": { "hgvs": "ENSP00000426535.3:p.Glu78del", "hgvsWellDefined": "ENSP00000426535.3:p.Glu78del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914182" }, { "coordinates": [ { "allele": "", "end": 1006, "referenceAllele": "GAG", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000682650.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000506904.1:p.Glu264del", "hgvsWellDefined": "ENSP00000506904.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS827639" }, { "coordinates": [ { "allele": "", "end": 1007, "referenceAllele": "GAG", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000683032.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000506771.1:p.Glu264del", "hgvsWellDefined": "ENSP00000506771.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS828019" }, { "coordinates": [ { "allele": "", "end": 1007, "referenceAllele": "GAG", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000684195.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000508220.1:p.Glu264del", "hgvsWellDefined": "ENSP00000508220.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS829153" }, { "coordinates": [ { "allele": "", "end": 1075, "referenceAllele": "GAG", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.9:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000355292.6:p.Glu264del", "hgvsWellDefined": "ENSP00000355292.6:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS749441" }, { "coordinates": [ { "allele": "", "end": 1000, "referenceAllele": "GAG", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.9:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Glu264del", "hgvsWellDefined": "ENSP00000357283.4:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS750181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.790_792del" }, "RefSeq": { "hgvs": "NM_170707.4:c.790_792del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Glu264del" }, "RefSeq": { "hgvs": "NP_733821.1:p.Glu264del" } } } }, { "coordinates": [ { "allele": "", "end": 1167, "referenceAllele": "GAG", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.6:n.1165_1167del" ], "referenceSequence": "http://reg.genome.network/refseq/RS757845" }, { "coordinates": [ { "allele": "", "end": 543, "referenceAllele": "GAG", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.6:c.126_128del" ], "proteinEffect": { "hgvs": "ENSP00000426535.2:p.Trp42Ter", "hgvsWellDefined": "ENSP00000426535.2:p.Trp42Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS758023" }, { "coordinates": [ { "allele": "", "end": 1005, "referenceAllele": "GAG", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674518.1:c.*140_*142del" ], "proteinEffect": { "hgvs": "ENSP00000502261.1:n.*140_*142del" }, "referenceSequence": "http://reg.genome.network/refseq/RS774474" }, { "coordinates": [ { "allele": "", "end": 1190, "referenceAllele": "GAG", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674600.1:c.*589_*591del" ], "proteinEffect": { "hgvs": "ENSP00000501666.1:n.*589_*591del" }, "referenceSequence": "http://reg.genome.network/refseq/RS774544" }, { "coordinates": [ { "allele": "", "end": 1167, "referenceAllele": "GAG", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674720.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000502798.1:p.Glu264del", "hgvsWellDefined": "ENSP00000502798.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS774644" }, { "coordinates": [ { "allele": "", "end": 485, "referenceAllele": "GAG", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675431.1:n.483_485del" ], "referenceSequence": "http://reg.genome.network/refseq/RS775256" }, { "coordinates": [ { "allele": "", "end": 911, "referenceAllele": "GAG", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675455.1:c.*590_*592del" ], "proteinEffect": { "hgvs": "ENSP00000501795.1:n.*590_*592del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775275" }, { "coordinates": [ { "allele": "", "end": 1167, "referenceAllele": "GAG", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675667.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000501803.1:p.Glu264del", "hgvsWellDefined": "ENSP00000501803.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775456" }, { "coordinates": [ { "allele": "", "end": 853, "referenceAllele": "GAG", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675874.1:c.*261_*263del" ], "proteinEffect": { "hgvs": "ENSP00000501851.1:n.*261_*263del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775638" }, { "coordinates": [ { "allele": "", "end": 1000, "referenceAllele": "GAG", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675881.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000501670.1:p.Glu264del", "hgvsWellDefined": "ENSP00000501670.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775644" }, { "coordinates": [ { "allele": "", "end": 1011, "referenceAllele": "GAG", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675939.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000502256.1:p.Glu264del", "hgvsWellDefined": "ENSP00000502256.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775693" }, { "coordinates": [ { "allele": "", "end": 1167, "referenceAllele": "GAG", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675989.1:n.1165_1167del" ], "referenceSequence": "http://reg.genome.network/refseq/RS775733" }, { "coordinates": [ { "allele": "", "end": 1010, "referenceAllele": "GAG", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676208.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000502468.1:p.Glu264del", "hgvsWellDefined": "ENSP00000502468.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS775924" }, { "coordinates": [ { "allele": "", "end": 1167, "referenceAllele": "GAG", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676283.1:n.1165_1167del" ], "referenceSequence": "http://reg.genome.network/refseq/RS775987" }, { "coordinates": [ { "allele": "", "end": 1633, "referenceAllele": "GAG", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676385.2:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000502091.1:p.Glu264del", "hgvsWellDefined": "ENSP00000502091.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS776075" }, { "coordinates": [ { "allele": "", "end": 1010, "referenceAllele": "GAG", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676434.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000501648.1:p.Glu264del", "hgvsWellDefined": "ENSP00000501648.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS776116" }, { "coordinates": [ { "allele": "", "end": 1000, "referenceAllele": "GAG", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000677389.1:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000503633.1:p.Glu264del", "hgvsWellDefined": "ENSP00000503633.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS777051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.790_792del" }, "RefSeq": { "hgvs": "NM_005572.4:c.790_792del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Glu264del" }, "RefSeq": { "hgvs": "NP_005563.1:p.Glu264del" } } } }, { "coordinates": [ { "allele": "", "end": 1041, "referenceAllele": "GAG", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000347559.6:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000292304.3:p.Glu264del", "hgvsWellDefined": "ENSP00000292304.3:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247316" }, { "coordinates": [ { "allele": "", "end": 1041, "referenceAllele": "GAG", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.8:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000355292.5:p.Glu264del", "hgvsWellDefined": "ENSP00000355292.5:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247226" }, { "coordinates": [ { "allele": "", "end": 651, "referenceAllele": "GAG", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368297.5:c.547_549del" ], "proteinEffect": { "hgvs": "ENSP00000357280.1:p.Glu183del", "hgvsWellDefined": "ENSP00000357280.1:p.Glu183del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247394" }, { "coordinates": [ { "allele": "", "end": 989, "referenceAllele": "GAG", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368299.7:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000357282.3:p.Glu264del", "hgvsWellDefined": "ENSP00000357282.3:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247280" }, { "coordinates": [ { "allele": "", "end": 1004, "referenceAllele": "GAG", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.8:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Glu264del", "hgvsWellDefined": "ENSP00000357283.4:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247209" }, { "coordinates": [ { "allele": "", "end": 1433, "referenceAllele": "GAG", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368301.6:c.790_792del" ], "proteinEffect": { "hgvs": "ENSP00000357284.2:p.Glu264del", "hgvsWellDefined": "ENSP00000357284.2:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS246645" }, { "coordinates": [ { "allele": "", "end": 500, "referenceAllele": "GAG", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000448611.6:c.454_456del" ], "proteinEffect": { "hgvs": "ENSP00000395597.2:p.Glu152del", "hgvsWellDefined": "ENSP00000395597.2:p.Glu152del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247357" }, { "coordinates": [ { "allele": "", "end": 615, "referenceAllele": "GAG", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000473598.6:c.493_495del" ], "proteinEffect": { "hgvs": "ENSP00000421821.1:p.Glu165del", "hgvsWellDefined": "ENSP00000421821.1:p.Glu165del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247207" }, { "coordinates": [ { "allele": "", "end": 137, "referenceAllele": "GAG", "start": 134 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.5:n.135_137del" ], "referenceSequence": "http://reg.genome.network/refseq/RS333133" }, { "coordinates": [ { "allele": "", "end": 543, "referenceAllele": "GAG", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.5:c.541_543del" ], "proteinEffect": { "hgvs": "ENSP00000426535.1:p.Glu181del", "hgvsWellDefined": "ENSP00000426535.1:p.Glu181Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247175" }, { "coordinates": [ { "allele": "", "end": 700, "referenceAllele": "GAG", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000515459.5:c.*464_*466del" ], "proteinEffect": { "hgvs": "ENSP00000424518.1:n.*464_*466del" }, "referenceSequence": "http://reg.genome.network/refseq/RS344685" }, { "coordinates": [ { "allele": "", "end": 153, "referenceAllele": "GAG", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000515824.1:n.151_153del" ], "referenceSequence": "http://reg.genome.network/refseq/RS344959" }, { "@id": "http://reg.genome.network/allele/PA2826443111", "coordinates": [ { "allele": "", "end": 543, "referenceAllele": "GAG", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.2:c.454_456del" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Glu152del", "hgvsWellDefined": "NP_001244303.1:p.Glu152del" }, "referenceSequence": "http://reg.genome.network/refseq/RS019616" }, { "@id": "http://reg.genome.network/allele/PA2826657593", "coordinates": [ { "allele": "", "end": 723, "referenceAllele": "GAG", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.1:c.547_549del" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Glu183del", "hgvsWellDefined": "NP_001269553.1:p.Glu183del" }, "referenceSequence": "http://reg.genome.network/refseq/RS022104" }, { "@id": "http://reg.genome.network/allele/PA2826658854", "coordinates": [ { "allele": "", "end": 1465, "referenceAllele": "GAG", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.1:c.790_792del" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Glu264del", "hgvsWellDefined": "NP_001269554.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS022105" }, { "@id": "http://reg.genome.network/allele/PA2826660115", "coordinates": [ { "allele": "", "end": 1041, "referenceAllele": "GAG", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.1:c.790_792del" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Glu264del", "hgvsWellDefined": "NP_001269555.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS022106" }, { "@id": "http://reg.genome.network/allele/PA2829603336", "coordinates": [ { "allele": "", "end": 1041, "referenceAllele": "GAG", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.3:c.790_792del", "LRG_254t1:c.790_792del" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Glu264del", "hgvsWellDefined": "NP_005563.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS030662" }, { "@id": "http://reg.genome.network/allele/PA2830326951", "coordinates": [ { "allele": "", "end": 1041, "referenceAllele": "GAG", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.3:c.790_792del" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Glu264del", "hgvsWellDefined": "NP_733821.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS042563" }, { "@id": "http://reg.genome.network/allele/PA645457708", "coordinates": [ { "allele": "", "end": 1041, "referenceAllele": "GAG", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.3:c.790_792del" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Glu264del", "hgvsWellDefined": "NP_733822.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS042564" }, { "coordinates": [ { "allele": "", "end": 538, "referenceAllele": "GAG", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509533.1:c.454_456del" ], "proteinEffect": { "hgvs": "XP_011507835.1:p.Glu152del", "hgvsWellDefined": "XP_011507835.1:p.Glu152del" }, "referenceSequence": "http://reg.genome.network/refseq/RS076800" }, { "coordinates": [ { "allele": "", "end": 436, "referenceAllele": "GAG", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.1:c.126_128del" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Trp42Ter", "hgvsWellDefined": "XP_011507836.1:p.Trp42_Met456delinsArgArgLeuIleLeuProSerTrpThrMetProGlySerLeuLeuArgGlyThrAlaThrTrpTrpGlyLeuProThrArgSerCysSerSerArgAlaSerAlaSerThrAlaSerLeuProSerSerAlaSerSerArgSerArgAlaLeuGlySerSerProAsnProProThrProLeuGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076801" }, { "coordinates": [ { "allele": "", "end": 1041, "referenceAllele": "GAG", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.1:n.1039_1041del" ], "referenceSequence": "http://reg.genome.network/refseq/RS118967" }, { "coordinates": [ { "allele": "", "end": 538, "referenceAllele": "GAG", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.2:c.126_128del" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Trp42Ter", "hgvsWellDefined": "XP_011507836.1:p.Trp42_Met456delinsArgArgLeuIleLeuProSerTrpThrMetProGlySerLeuLeuArgGlyThrAlaThrTrpTrpGlyLeuProThrArgSerCysSerSerArgAlaSerAlaSerThrAlaSerLeuProSerSerAlaSerSerArgSerArgAlaLeuGlySerSerProAsnProProThrProLeuGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541310" }, { "coordinates": [ { "allele": "", "end": 1039, "referenceAllele": "GAG", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.2:n.1037_1039del" ], "referenceSequence": "http://reg.genome.network/refseq/RS606864" }, { "@id": "http://reg.genome.network/allele/PA2830326951", "coordinates": [ { "allele": "", "end": 1000, "referenceAllele": "GAG", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.4:c.790_792del" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Glu264del", "hgvsWellDefined": "NP_733821.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS672588", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.790_792del" }, "RefSeq": { "hgvs": "NM_170707.4:c.790_792del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Glu264del" }, "RefSeq": { "hgvs": "NP_733821.1:p.Glu264del" } } } }, { "@id": "http://reg.genome.network/allele/PA2826443111", "coordinates": [ { "allele": "", "end": 490, "referenceAllele": "GAG", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.3:c.454_456del" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Glu152del", "hgvsWellDefined": "NP_001244303.1:p.Glu152del" }, "referenceSequence": "http://reg.genome.network/refseq/RS680726" }, { "@id": "http://reg.genome.network/allele/PA2826660115", "coordinates": [ { "allele": "", "end": 1000, "referenceAllele": "GAG", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.2:c.790_792del" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Glu264del", "hgvsWellDefined": "NP_001269555.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS681840" }, { "@id": "http://reg.genome.network/allele/PA2826657593", "coordinates": [ { "allele": "", "end": 670, "referenceAllele": "GAG", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.2:c.547_549del" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Glu183del", "hgvsWellDefined": "NP_001269553.1:p.Glu183del" }, "referenceSequence": "http://reg.genome.network/refseq/RS715878" }, { "@id": "http://reg.genome.network/allele/PA2826658854", "coordinates": [ { "allele": "", "end": 1438, "referenceAllele": "GAG", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.2:c.790_792del" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Glu264del", "hgvsWellDefined": "NP_001269554.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS715879" }, { "@id": "http://reg.genome.network/allele/PA2829603336", "coordinates": [ { "allele": "", "end": 1000, "referenceAllele": "GAG", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.4:c.790_792del" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Glu264del", "hgvsWellDefined": "NP_005563.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS727649", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.790_792del" }, "RefSeq": { "hgvs": "NM_005572.4:c.790_792del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Glu264del" }, "RefSeq": { "hgvs": "NP_005563.1:p.Glu264del" } } } }, { "@id": "http://reg.genome.network/allele/PA645457708", "coordinates": [ { "allele": "", "end": 1000, "referenceAllele": "GAG", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.4:c.790_792del" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Glu264del", "hgvsWellDefined": "NP_733822.1:p.Glu264del" }, "referenceSequence": "http://reg.genome.network/refseq/RS729502" } ], "type": "nucleotide" }