{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9033311", "communityStandardTitle": [ "NM_019112.4(ABCA7):c.2126_2132del (p.Glu709AlafsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227447[alleleid]", "alleleId": 227447, "preferredName": "NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225544", "RCV": [ "RCV000210926", "RCV000762228", "RCV001090097" ], "variationId": 225544 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-1047507-AGGAGCAG-A", "id": "19-1047507-AGGAGCAG-A", "variant": "19:1047507 AGGAGCAG / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1047508_1047514del?assembly=hg19", "id": "chr19:g.1047508_1047514del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1047510_1047516del?assembly=hg38", "id": "chr19:g.1047510_1047516del" }, { "@id": "http://myvariant.info/v1/variant/chr19:g.1047509_1047515del?assembly=hg38", "id": "chr19:g.1047509_1047515del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/547447016", "rs": 547447016 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1047507-AGGAGCAG-A?dataset=gnomad_r2_1", "id": "19-1047507-AGGAGCAG-A", "variant": "19:1047507 AGGAGCAG / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1047508-AGGAGCAG-A?dataset=gnomad_r3", "id": "19-1047508-AGGAGCAG-A", "variant": "19:1047508 AGGAGCAG / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-1047508-AGGAGCAG-A?dataset=gnomad_r4", "id": "19-1047508-AGGAGCAG-A", "variant": "19:1047508 AGGAGCAG / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "", "end": 1047517, "referenceAllele": "AGCAGGG", "start": 1047510 } ], "hgvs": [ "NC_000019.10:g.1047511_1047517del", "CM000681.2:g.1047511_1047517del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 1047516, "referenceAllele": "AGCAGGG", "start": 1047509 } ], "hgvs": [ "NC_000019.9:g.1047510_1047516del", "CM000681.1:g.1047510_1047516del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "", "end": 998516, "referenceAllele": "AGCAGGG", "start": 998509 } ], "hgvs": [ "NC_000019.8:g.998510_998516del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "", "end": 12415, "referenceAllele": "AGCAGGG", "start": 12408 } ], "hgvs": [ "NG_046909.1:g.12409_12415del" ], "referenceSequence": "http://reg.genome.network/refseq/RS616446" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 2359, "referenceAllele": "AGCAGGG", "start": 2352 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "ENST00000263094.11:c.2126_2132del" ], "proteinEffect": { "hgvs": "ENSP00000263094.6:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS742452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000263094.11:c.2126_2132del" }, "RefSeq": { "hgvs": "NM_019112.4:c.2126_2132del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000263094.6:p.Glu709AlafsTer?" }, "RefSeq": { "hgvs": "NP_061985.2:p.Glu709AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 2812, "referenceAllele": "AGCAGGG", "start": 2805 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "ENST00000433129.6:n.2806_2812del" ], "referenceSequence": "http://reg.genome.network/refseq/RS755441" }, { "coordinates": [ { "allele": "", "end": 2363, "referenceAllele": "AGCAGGG", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "ENST00000263094.10:c.2126_2132del" ], "proteinEffect": { "hgvs": "ENSP00000263094.6:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS251188" }, { "coordinates": [ { "allele": "", "end": 2248, "referenceAllele": "AGCAGGG", "start": 2241 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "ENST00000433129.5:c.2126_2132del" ], "proteinEffect": { "hgvs": "ENSP00000414062.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS292397" }, { "coordinates": [ { "allele": "", "end": 1755, "referenceAllele": "AGCAGGG", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "ENST00000435683.6:c.1712_1718del" ], "proteinEffect": { "hgvs": "ENSP00000465322.1:p.Glu571AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS293619" }, { "coordinates": [ { "allele": "", "end": 550, "referenceAllele": "AGCAGGG", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "ENST00000533574.1:n.544_550del" ], "referenceSequence": "http://reg.genome.network/refseq/RS358325" }, { "coordinates": [ { "allele": "", "end": 2363, "referenceAllele": "AGCAGGG", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "NM_019112.3:c.2126_2132del" ], "proteinEffect": { "hgvs": "NP_061985.2:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS036100" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_006722616.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_006722679.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS074645" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_006722617.2:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_006722680.1:p.Glu709AlafsTer?", "hgvsWellDefined": "XP_006722680.1:p.[Glu709_Glu712delinsAlaArgAlaArgSer;Ala714_Gln715delinsThrThr;His717_Val719delinsAlaPro;Thr721Leu;Pro723Gln;Thr724_Ala725insSerSer;Asp726_Phe728delinsTrpProArg;Gln732_Asp740delinsPheCysCysTrpThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS074646" }, { "coordinates": [ { "allele": "", "end": 2211, "referenceAllele": "AGCAGGG", "start": 2204 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527628.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525930.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS094720" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527629.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525931.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS094721" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527630.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525932.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS094722" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527631.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525933.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS094723" }, { "coordinates": [ { "allele": "", "end": 1802, "referenceAllele": "AGCAGGG", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527632.1:c.1670_1676del" ], "proteinEffect": { "hgvs": "XP_011525934.1:p.Glu557AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS094724" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527633.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525935.1:p.Glu709AlafsTer?", "hgvsWellDefined": "XP_011525935.1:p.[Glu709_Glu712delinsAlaArgAlaArgSer;Ala714_Gln715delinsThrThr;His717_Val719delinsAlaPro;Thr721Leu;Pro723Gln;Thr724_Ala725insSerSer;Asp726_Phe728delinsTrpProArg;Gln732_Asp740delinsPheCysCysTrpThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS094725" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527634.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525936.1:p.Glu709AlafsTer?", "hgvsWellDefined": "XP_011525936.1:p.[Glu709_Glu712delinsAlaArgAlaArgSer;Ala714_Gln715delinsThrThr;His717_Val719delinsAlaPro;Thr721Leu;Pro723Gln;Thr724_Ala725insSerSer;Asp726_Phe728delinsTrpProArg;Gln732_Asp740delinsPheCysCysTrpThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS094726" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527635.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525937.1:p.Glu709AlafsTer?", "hgvsWellDefined": "XP_011525937.1:p.[Glu709_Glu712delinsAlaArgAlaArgSer;Ala714_Gln715delinsThrThr;His717_Val719delinsAlaPro;Thr721Leu;Pro723Gln;Thr724_Ala725insSerSer;Asp726_Phe728delinsTrpProArg;Gln732_Asp740delinsPheCysCysTrpThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS094727" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936148.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131358" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936149.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131359" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936150.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131360" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936151.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131361" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936152.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131362" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936153.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131363" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936154.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131364" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_936155.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS131365" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_011527633.2:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_011525935.1:p.Glu709AlafsTer?", "hgvsWellDefined": "XP_011525935.1:p.[Glu709_Glu712delinsAlaArgAlaArgSer;Ala714_Gln715delinsThrThr;His717_Val719delinsAlaPro;Thr721Leu;Pro723Gln;Thr724_Ala725insSerSer;Asp726_Phe728delinsTrpProArg;Gln732_Asp740delinsPheCysCysTrpThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS548763" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_017026143.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_016881632.1:p.Glu709AlafsTer?", "hgvsWellDefined": "XP_016881632.1:p.[Glu709_Glu712delinsAlaArgAlaArgSer;Ala714_Gln715delinsThrThr;His717_Val719delinsAlaPro;Thr721Leu;Pro723Gln;Thr724_Ala725insSerSer;Asp726_Phe728delinsTrpProArg;Gln732_Asp740delinsPheCysCysTrpThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS576334" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451315.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307083.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584834" }, { "coordinates": [ { "allele": "", "end": 2225, "referenceAllele": "AGCAGGG", "start": 2218 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451316.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307084.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584835" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451317.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307085.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584836" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451318.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307086.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584837" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451319.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307087.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584838" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451320.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307088.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584839" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451321.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307089.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584840" }, { "coordinates": [ { "allele": "", "end": 1802, "referenceAllele": "AGCAGGG", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451322.1:c.1670_1676del" ], "proteinEffect": { "hgvs": "XP_024307090.1:p.Glu557AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584841" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XM_024451323.1:c.2126_2132del" ], "proteinEffect": { "hgvs": "XP_024307091.1:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS584842" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_001753585.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600079" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_001753586.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS600080" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_002958240.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS604366" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_002958241.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS604367" }, { "coordinates": [ { "allele": "", "end": 2350, "referenceAllele": "AGCAGGG", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "XR_002958242.1:n.2344_2350del" ], "referenceSequence": "http://reg.genome.network/refseq/RS604368" }, { "coordinates": [ { "allele": "", "end": 2359, "referenceAllele": "AGCAGGG", "start": 2352 } ], "gene": "http://reg.genome.network/gene/GN000037", "geneNCBI_id": 10347, "geneSymbol": "ABCA7", "hgvs": [ "NM_019112.4:c.2126_2132del" ], "proteinEffect": { "hgvs": "NP_061985.2:p.Glu709AlafsTer?" }, "referenceSequence": "http://reg.genome.network/refseq/RS698145", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000263094.11:c.2126_2132del" }, "RefSeq": { "hgvs": "NM_019112.4:c.2126_2132del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000263094.6:p.Glu709AlafsTer?" }, "RefSeq": { "hgvs": "NP_061985.2:p.Glu709AlafsTer?" } } } } ], "type": "nucleotide" }