{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9841480", "communityStandardTitle": [ "NM_001365621.2(DLGAP4):c.2779C>A (p.Pro927Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2215263[alleleid]", "alleleId": 2215263, "preferredName": "NM_001365621.2(DLGAP4):c.2779C>A (p.Pro927Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2225813", "RCV": [ "RCV004086965" ], "variationId": 2225813 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-35155234-C-A", "id": "20-35155234-C-A", "variant": "20:35155234 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.35155234C>A?assembly=hg19", "id": "chr20:g.35155234C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.36526831C>A?assembly=hg38", "id": "chr20:g.36526831C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/761824309", "rs": 761824309 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-35155234-C-A?dataset=gnomad_r2_1", "id": "20-35155234-C-A", "variant": "20:35155234 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-36526831-C-A?dataset=gnomad_r3", "id": "20-36526831-C-A", "variant": "20:36526831 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-36526831-C-A?dataset=gnomad_r4", "id": "20-36526831-C-A", "variant": "20:36526831 C / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 36526831, "referenceAllele": "C", "start": 36526830 } ], "hgvs": [ "NC_000020.11:g.36526831C>A", "CM000682.2:g.36526831C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 35155234, "referenceAllele": "C", "start": 35155233 } ], "hgvs": [ "NC_000020.10:g.35155234C>A", "CM000682.1:g.35155234C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 34588648, "referenceAllele": "C", "start": 34588647 } ], "hgvs": [ "NC_000020.9:g.34588648C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000339266.10:c.2779C>A" ], "proteinEffect": { "hgvs": "ENSP00000341633.5:p.Pro927Thr", "hgvsWellDefined": "ENSP00000341633.5:p.Pro927Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS823992", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339266.10:c.2779C>A" }, "RefSeq": { "hgvs": "NM_001365621.2:c.2779C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341633.5:p.Pro927Thr" }, "RefSeq": { "hgvs": "NP_001352550.1:p.Pro927Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 3214, "referenceAllele": "C", "start": 3213 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000339266.9:c.2779C>A" ], "proteinEffect": { "hgvs": "ENSP00000341633.5:p.Pro927Thr", "hgvsWellDefined": "ENSP00000341633.5:p.Pro927Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS260827" }, { "coordinates": [ { "allele": "A", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000340491.8:c.1162C>A" ], "proteinEffect": { "hgvs": "ENSP00000345700.4:p.Pro388Thr", "hgvsWellDefined": "ENSP00000345700.4:p.Pro388Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS261106" }, { "coordinates": [ { "allele": "A", "end": 2978, "referenceAllele": "C", "start": 2977 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000373907.6:c.2779C>A" ], "proteinEffect": { "hgvs": "ENSP00000363014.2:p.Pro927Thr", "hgvsWellDefined": "ENSP00000363014.2:p.Pro927Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS269958" }, { "coordinates": [ { "allele": "A", "end": 3250, "referenceAllele": "C", "start": 3249 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000373913.7:c.2770C>A" ], "proteinEffect": { "hgvs": "ENSP00000363023.3:p.Pro924Thr", "hgvsWellDefined": "ENSP00000363023.3:p.Pro924Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS269963" }, { "coordinates": [ { "allele": "A", "end": 3077, "referenceAllele": "C", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000401952.6:c.2770C>A" ], "proteinEffect": { "hgvs": "ENSP00000384954.2:p.Pro924Thr", "hgvsWellDefined": "ENSP00000384954.2:p.Pro924Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS279367" }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000475894.5:c.658C>A" ], "proteinEffect": { "hgvs": "ENSP00000477723.1:p.Pro220Thr", "hgvsWellDefined": "ENSP00000477723.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS317078" }, { "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000477195.1:n.262C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318067" }, { "coordinates": [ { "allele": "A", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000478910.5:n.2274C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319407" }, { "coordinates": [ { "allele": "A", "end": 1996, "referenceAllele": "C", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000489701.5:c.*33C>A" ], "proteinEffect": { "hgvs": "ENSP00000419311.1:n.*33C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS327706" }, { "coordinates": [ { "allele": "A", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "ENST00000497862.1:n.451C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS333994" }, { "@id": "http://reg.genome.network/allele/PA2825404961", "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001042486.3:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001035951.1:p.Pro220Thr", "hgvsWellDefined": "NP_001035951.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009719" }, { "@id": "http://reg.genome.network/allele/PA2829783606", "coordinates": [ { "allele": "A", "end": 3263, "referenceAllele": "C", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_014902.5:c.2770C>A" ], "proteinEffect": { "hgvs": "NP_055717.2:p.Pro924Thr", "hgvsWellDefined": "NP_055717.2:p.Pro924Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS033571" }, { "@id": "http://reg.genome.network/allele/PA2830408243", "coordinates": [ { "allele": "A", "end": 1948, "referenceAllele": "C", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_183006.3:c.1162C>A" ], "proteinEffect": { "hgvs": "NP_892118.1:p.Pro388Thr", "hgvsWellDefined": "NP_892118.1:p.Pro388Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS044212" }, { "coordinates": [ { "allele": "T", "end": 467, "endIntronDirection": "-", "endIntronOffset": 15798, "referenceAllele": "G", "start": 467, "startIntronDirection": "-", "startIntronOffset": 15799 } ], "gene": "http://reg.genome.network/gene/GN051223", "geneNCBI_id": 101926987, "geneSymbol": "DLGAP4-AS1", "hgvs": [ "NR_109939.1:n.468-15799G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054228" }, { "coordinates": [ { "allele": "A", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_005260332.3:c.697C>A" ], "proteinEffect": { "hgvs": "XP_005260389.1:p.Pro233Thr", "hgvsWellDefined": "XP_005260389.1:p.Pro233Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS062750" }, { "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_005260333.3:c.658C>A" ], "proteinEffect": { "hgvs": "XP_005260390.1:p.Pro220Thr", "hgvsWellDefined": "XP_005260390.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS062751" }, { "coordinates": [ { "allele": "A", "end": 3041, "referenceAllele": "C", "start": 3040 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528688.1:c.2779C>A" ], "proteinEffect": { "hgvs": "XP_011526990.1:p.Pro927Thr", "hgvsWellDefined": "XP_011526990.1:p.Pro927Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS095759" }, { "coordinates": [ { "allele": "A", "end": 3066, "referenceAllele": "C", "start": 3065 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528689.1:c.*21C>A" ], "proteinEffect": { "hgvs": "XP_011526991.1:n.*21C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS095760" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528690.1:c.697C>A" ], "proteinEffect": { "hgvs": "XP_011526992.1:p.Pro233Thr", "hgvsWellDefined": "XP_011526992.1:p.Pro233Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS095761" }, { "coordinates": [ { "allele": "A", "end": 2087, "referenceAllele": "C", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528691.1:c.658C>A" ], "proteinEffect": { "hgvs": "XP_011526993.1:p.Pro220Thr", "hgvsWellDefined": "XP_011526993.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS095762" }, { "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528692.1:c.658C>A" ], "proteinEffect": { "hgvs": "XP_011526994.1:p.Pro220Thr", "hgvsWellDefined": "XP_011526994.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS095763" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528693.1:c.658C>A" ], "proteinEffect": { "hgvs": "XP_011526995.1:p.Pro220Thr", "hgvsWellDefined": "XP_011526995.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS095764" }, { "coordinates": [ { "allele": "A", "end": 3195, "referenceAllele": "C", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XR_430296.2:n.3195C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118656" }, { "@id": "http://reg.genome.network/allele/PA2580222387", "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001365621.1:c.2779C>A" ], "proteinEffect": { "hgvs": "NP_001352550.1:p.Pro927Thr", "hgvsWellDefined": "NP_001352550.1:p.Pro927Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS524170" }, { "coordinates": [ { "allele": "A", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_005260332.5:c.697C>A" ], "proteinEffect": { "hgvs": "XP_005260389.1:p.Pro233Thr", "hgvsWellDefined": "XP_005260389.1:p.Pro233Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS535160" }, { "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_005260333.5:c.658C>A" ], "proteinEffect": { "hgvs": "XP_005260390.1:p.Pro220Thr", "hgvsWellDefined": "XP_005260390.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS535161" }, { "coordinates": [ { "allele": "A", "end": 3056, "referenceAllele": "C", "start": 3055 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528689.2:c.*21C>A" ], "proteinEffect": { "hgvs": "XP_011526991.1:n.*21C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS549207" }, { "coordinates": [ { "allele": "A", "end": 2068, "referenceAllele": "C", "start": 2067 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528691.3:c.658C>A" ], "proteinEffect": { "hgvs": "XP_011526993.1:p.Pro220Thr", "hgvsWellDefined": "XP_011526993.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS549208" }, { "coordinates": [ { "allele": "A", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_011528692.3:c.658C>A" ], "proteinEffect": { "hgvs": "XP_011526994.1:p.Pro220Thr", "hgvsWellDefined": "XP_011526994.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS549209" }, { "coordinates": [ { "allele": "A", "end": 1961, "referenceAllele": "C", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_017027725.2:c.1153C>A" ], "proteinEffect": { "hgvs": "XP_016883214.1:p.Pro385Thr", "hgvsWellDefined": "XP_016883214.1:p.Pro385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS577625" }, { "coordinates": [ { "allele": "A", "end": 1184, "referenceAllele": "C", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_017027726.2:c.658C>A" ], "proteinEffect": { "hgvs": "XP_016883215.1:p.Pro220Thr", "hgvsWellDefined": "XP_016883215.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS577626" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_017027727.2:c.658C>A" ], "proteinEffect": { "hgvs": "XP_016883216.1:p.Pro220Thr", "hgvsWellDefined": "XP_016883216.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS577627" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_024451855.1:c.697C>A" ], "proteinEffect": { "hgvs": "XP_024307623.1:p.Pro233Thr", "hgvsWellDefined": "XP_024307623.1:p.Pro233Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS585362" }, { "coordinates": [ { "allele": "A", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XM_024451856.1:c.658C>A" ], "proteinEffect": { "hgvs": "XP_024307624.1:p.Pro220Thr", "hgvsWellDefined": "XP_024307624.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS585363" }, { "coordinates": [ { "allele": "A", "end": 3162, "referenceAllele": "C", "start": 3161 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XR_001754205.2:n.3162C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600479" }, { "coordinates": [ { "allele": "A", "end": 3008, "referenceAllele": "C", "start": 3007 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "XR_001754206.2:n.3008C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600480" }, { "@id": "http://reg.genome.network/allele/PA2825404961", "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001042486.4:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001035951.1:p.Pro220Thr", "hgvsWellDefined": "NP_001035951.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676036" }, { "@id": "http://reg.genome.network/allele/PA2829783606", "coordinates": [ { "allele": "A", "end": 3247, "referenceAllele": "C", "start": 3246 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_014902.6:c.2770C>A" ], "proteinEffect": { "hgvs": "NP_055717.2:p.Pro924Thr", "hgvsWellDefined": "NP_055717.2:p.Pro924Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS697379" }, { "@id": "http://reg.genome.network/allele/PA2830408243", "coordinates": [ { "allele": "A", "end": 1936, "referenceAllele": "C", "start": 1935 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_183006.4:c.1162C>A" ], "proteinEffect": { "hgvs": "NP_892118.1:p.Pro388Thr", "hgvsWellDefined": "NP_892118.1:p.Pro388Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS701156" }, { "@id": "http://reg.genome.network/allele/PA2580222387", "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "C", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001365621.2:c.2779C>A" ], "proteinEffect": { "hgvs": "NP_001352550.1:p.Pro927Thr", "hgvsWellDefined": "NP_001352550.1:p.Pro927Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS720936", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339266.10:c.2779C>A" }, "RefSeq": { "hgvs": "NM_001365621.2:c.2779C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000341633.5:p.Pro927Thr" }, "RefSeq": { "hgvs": "NP_001352550.1:p.Pro927Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2829173132", "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388257.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375186.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375186.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725959" }, { "@id": "http://reg.genome.network/allele/PA2829173206", "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388260.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375189.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375189.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725962" }, { "@id": "http://reg.genome.network/allele/PA2829173252", "coordinates": [ { "allele": "A", "end": 1277, "referenceAllele": "C", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388262.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375191.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375191.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725964" }, { "@id": "http://reg.genome.network/allele/PA2829173326", "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "C", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388265.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375194.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375194.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725967" }, { "@id": "http://reg.genome.network/allele/PA2829173400", "coordinates": [ { "allele": "A", "end": 1847, "referenceAllele": "C", "start": 1846 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388268.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375197.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375197.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725970" }, { "@id": "http://reg.genome.network/allele/PA2829173474", "coordinates": [ { "allele": "A", "end": 2016, "referenceAllele": "C", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388271.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375200.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375200.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725973" }, { "@id": "http://reg.genome.network/allele/PA2829173544", "coordinates": [ { "allele": "A", "end": 2039, "referenceAllele": "C", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388274.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375203.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375203.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725976" }, { "@id": "http://reg.genome.network/allele/PA2829173561", "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388275.1:c.658C>A" ], "proteinEffect": { "hgvs": "NP_001375204.1:p.Pro220Thr", "hgvsWellDefined": "NP_001375204.1:p.Pro220Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725977" }, { "@id": "http://reg.genome.network/allele/PA2829173597", "coordinates": [ { "allele": "A", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388277.1:c.697C>A" ], "proteinEffect": { "hgvs": "NP_001375206.1:p.Pro233Thr", "hgvsWellDefined": "NP_001375206.1:p.Pro233Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725979" }, { "@id": "http://reg.genome.network/allele/PA2829173623", "coordinates": [ { "allele": "A", "end": 1927, "referenceAllele": "C", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN024476", "geneNCBI_id": 22839, "geneSymbol": "DLGAP4", "hgvs": [ "NM_001388278.1:c.1153C>A" ], "proteinEffect": { "hgvs": "NP_001375207.1:p.Pro385Thr", "hgvsWellDefined": "NP_001375207.1:p.Pro385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS725980" } ], "type": "nucleotide" }