{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA358733037", "communityStandardTitle": [ "NM_001199397.3(NEK1):c.2235T>A (p.Asn745Lys)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.170398474A>T?assembly=hg19", "id": "chr4:g.170398474A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.169477323A>T?assembly=hg38", "id": "chr4:g.169477323A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/34324114", "rs": 34324114 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 169477323, "referenceAllele": "A", "start": 169477322 } ], "hgvs": [ "NC_000004.12:g.169477323A>T", "CM000666.2:g.169477323A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 170398474, "referenceAllele": "A", "start": 170398473 } ], "hgvs": [ "NC_000004.11:g.170398474A>T", "CM000666.1:g.170398474A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 170635049, "referenceAllele": "A", "start": 170635048 } ], "hgvs": [ "NC_000004.10:g.170635049A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 140305, "referenceAllele": "T", "start": 140304 } ], "hgvs": [ "NG_027982.1:g.140305T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2644, "referenceAllele": "T", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000685111.1:c.2067T>A" ], "proteinEffect": { "hgvs": "ENSP00000508844.1:p.Asn689Lys", "hgvsWellDefined": "ENSP00000508844.1:p.Asn689Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS829888" }, { "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "T", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000685677.1:n.1533T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830199" }, { "coordinates": [ { "allele": "A", "end": 2512, "referenceAllele": "T", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000686697.1:c.1929T>A" ], "proteinEffect": { "hgvs": "ENSP00000508689.1:p.Asn643Lys", "hgvsWellDefined": "ENSP00000508689.1:p.Asn643Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS830702" }, { "coordinates": [ { "allele": "A", "end": 2729, "referenceAllele": "T", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000687054.1:n.2729T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830882" }, { "coordinates": [ { "allele": "A", "end": 3640, "referenceAllele": "T", "start": 3639 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000687528.1:c.*970T>A" ], "proteinEffect": { "hgvs": "ENSP00000510228.1:n.*970T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831131" }, { "coordinates": [ { "allele": "A", "end": 2748, "referenceAllele": "T", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000687643.1:c.2178T>A" ], "proteinEffect": { "hgvs": "ENSP00000509309.1:p.Asn726Lys", "hgvsWellDefined": "ENSP00000509309.1:p.Asn726Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS831193" }, { "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "T", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000688934.1:c.258T>A" ], "proteinEffect": { "hgvs": "ENSP00000510760.1:p.Asn86Lys", "hgvsWellDefined": "ENSP00000510760.1:p.Asn86Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS831901" }, { "coordinates": [ { "allele": "A", "end": 1685, "referenceAllele": "T", "start": 1684 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000690540.1:n.1685T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832752" }, { "coordinates": [ { "allele": "A", "end": 2769, "referenceAllele": "T", "start": 2768 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000507142.6:c.2235T>A" ], "proteinEffect": { "hgvs": "ENSP00000424757.2:p.Asn745Lys", "hgvsWellDefined": "ENSP00000424757.2:p.Asn745Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS758106", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.2235T>A" }, "RefSeq": { "hgvs": "NM_001199397.3:c.2235T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Asn745Lys" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Asn745Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "T", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000638824.1:n.363T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764721" }, { "coordinates": [ { "allele": "A", "end": 2792, "referenceAllele": "T", "start": 2791 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000439128.6:c.2151T>A" ], "proteinEffect": { "hgvs": "ENSP00000408020.2:p.Asn717Lys", "hgvsWellDefined": "ENSP00000408020.2:p.Asn717Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS295273" }, { "coordinates": [ { "allele": "A", "end": 2815, "referenceAllele": "T", "start": 2814 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000507142.5:c.2235T>A" ], "proteinEffect": { "hgvs": "ENSP00000424757.1:p.Asn745Lys", "hgvsWellDefined": "ENSP00000424757.1:p.Asn745Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS338506" }, { "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "T", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000510533.5:c.2019T>A" ], "proteinEffect": { "hgvs": "ENSP00000427653.1:p.Asn673Lys", "hgvsWellDefined": "ENSP00000427653.1:p.Asn673Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS341015" }, { "coordinates": [ { "allele": "A", "end": 2681, "referenceAllele": "T", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000511633.5:c.2103T>A" ], "proteinEffect": { "hgvs": "ENSP00000423332.1:p.Asn701Lys", "hgvsWellDefined": "ENSP00000423332.1:p.Asn701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS341855" }, { "coordinates": [ { "allele": "A", "end": 2522, "referenceAllele": "T", "start": 2521 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000512193.5:c.1944T>A" ], "proteinEffect": { "hgvs": "ENSP00000424938.1:p.Asn648Lys", "hgvsWellDefined": "ENSP00000424938.1:p.Asn648Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS342283" }, { "@id": "http://reg.genome.network/allele/PA645437165", "coordinates": [ { "allele": "A", "end": 2813, "referenceAllele": "T", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.1:c.2235T>A" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Asn745Lys", "hgvsWellDefined": "NP_001186326.1:p.Asn745Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS017100" }, { "@id": "http://reg.genome.network/allele/PA2826242302", "coordinates": [ { "allele": "A", "end": 2681, "referenceAllele": "T", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.1:c.2103T>A" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Asn701Lys", "hgvsWellDefined": "NP_001186327.1:p.Asn701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS017101" }, { "@id": "http://reg.genome.network/allele/PA2826242709", "coordinates": [ { "allele": "A", "end": 2522, "referenceAllele": "T", "start": 2521 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.1:c.1944T>A" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Asn648Lys", "hgvsWellDefined": "NP_001186328.1:p.Asn648Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS017102" }, { "@id": "http://reg.genome.network/allele/PA2826243129", "coordinates": [ { "allele": "A", "end": 2675, "referenceAllele": "T", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.1:c.2019T>A" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Asn673Lys", "hgvsWellDefined": "NP_001186329.1:p.Asn673Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS017103" }, { "@id": "http://reg.genome.network/allele/PA2829727279", "coordinates": [ { "allele": "A", "end": 2807, "referenceAllele": "T", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.2:c.2151T>A" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Asn717Lys", "hgvsWellDefined": "NP_036356.1:p.Asn717Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS032409" }, { "coordinates": [ { "allele": "A", "end": 2815, "referenceAllele": "T", "start": 2814 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_006714228.1:c.2235T>A" ], "proteinEffect": { "hgvs": "XP_006714291.1:p.Asn745Lys", "hgvsWellDefined": "XP_006714291.1:p.Asn745Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS070554" }, { "coordinates": [ { "allele": "A", "end": 2731, "referenceAllele": "T", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532003.1:c.2151T>A" ], "proteinEffect": { "hgvs": "XP_011530305.1:p.Asn717Lys", "hgvsWellDefined": "XP_011530305.1:p.Asn717Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099032" }, { "coordinates": [ { "allele": "A", "end": 2599, "referenceAllele": "T", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532004.1:c.2019T>A" ], "proteinEffect": { "hgvs": "XP_011530306.1:p.Asn673Lys", "hgvsWellDefined": "XP_011530306.1:p.Asn673Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099033" }, { "coordinates": [ { "allele": "A", "end": 2717, "referenceAllele": "T", "start": 2716 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008249.1:c.1614T>A" ], "proteinEffect": { "hgvs": "XP_016863738.1:p.Asn538Lys", "hgvsWellDefined": "XP_016863738.1:p.Asn538Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562791" }, { "coordinates": [ { "allele": "A", "end": 2633, "referenceAllele": "T", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008251.1:c.1530T>A" ], "proteinEffect": { "hgvs": "XP_016863740.1:p.Asn510Lys", "hgvsWellDefined": "XP_016863740.1:p.Asn510Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562792" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "T", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008252.2:c.1530T>A" ], "proteinEffect": { "hgvs": "XP_016863741.1:p.Asn510Lys", "hgvsWellDefined": "XP_016863741.1:p.Asn510Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562793" }, { "coordinates": [ { "allele": "A", "end": 2663, "referenceAllele": "T", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008253.1:c.1083T>A" ], "proteinEffect": { "hgvs": "XP_016863742.1:p.Asn361Lys", "hgvsWellDefined": "XP_016863742.1:p.Asn361Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562794" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "T", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008254.1:c.879T>A" ], "proteinEffect": { "hgvs": "XP_016863743.1:p.Asn293Lys", "hgvsWellDefined": "XP_016863743.1:p.Asn293Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562795" }, { "coordinates": [ { "allele": "A", "end": 2760, "referenceAllele": "T", "start": 2759 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_024454065.1:c.1614T>A" ], "proteinEffect": { "hgvs": "XP_024309833.1:p.Asn538Lys", "hgvsWellDefined": "XP_024309833.1:p.Asn538Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS587435" }, { "coordinates": [ { "allele": "A", "end": 2719, "endIntronDirection": "+", "endIntronOffset": 2080, "referenceAllele": "T", "start": 2719, "startIntronDirection": "+", "startIntronOffset": 2079 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741233.1:n.2719+2080T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591266" }, { "coordinates": [ { "allele": "A", "end": 3511, "referenceAllele": "T", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741234.2:n.3511T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591267" }, { "@id": "http://reg.genome.network/allele/PA645437165", "coordinates": [ { "allele": "A", "end": 2769, "referenceAllele": "T", "start": 2768 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.3:c.2235T>A" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Asn745Lys", "hgvsWellDefined": "NP_001186326.1:p.Asn745Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS679559", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.2235T>A" }, "RefSeq": { "hgvs": "NM_001199397.3:c.2235T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Asn745Lys" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Asn745Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2826242302", "coordinates": [ { "allele": "A", "end": 2637, "referenceAllele": "T", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.2:c.2103T>A" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Asn701Lys", "hgvsWellDefined": "NP_001186327.1:p.Asn701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS679560" }, { "@id": "http://reg.genome.network/allele/PA2826242709", "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "T", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.2:c.1944T>A" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Asn648Lys", "hgvsWellDefined": "NP_001186328.1:p.Asn648Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS679561" }, { "@id": "http://reg.genome.network/allele/PA2826243129", "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "T", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.2:c.2019T>A" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Asn673Lys", "hgvsWellDefined": "NP_001186329.1:p.Asn673Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS679562" }, { "@id": "http://reg.genome.network/allele/PA2573072952", "coordinates": [ { "allele": "A", "end": 2847, "referenceAllele": "T", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374418.1:c.2235T>A" ], "proteinEffect": { "hgvs": "NP_001361347.1:p.Asn745Lys", "hgvsWellDefined": "NP_001361347.1:p.Asn745Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693261" }, { "@id": "http://reg.genome.network/allele/PA2828511574", "coordinates": [ { "allele": "A", "end": 2685, "referenceAllele": "T", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374419.1:c.2151T>A" ], "proteinEffect": { "hgvs": "NP_001361348.1:p.Asn717Lys", "hgvsWellDefined": "NP_001361348.1:p.Asn717Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693262" }, { "@id": "http://reg.genome.network/allele/PA2828512007", "coordinates": [ { "allele": "A", "end": 2634, "referenceAllele": "T", "start": 2633 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374420.1:c.2100T>A" ], "proteinEffect": { "hgvs": "NP_001361349.1:p.Asn700Lys", "hgvsWellDefined": "NP_001361349.1:p.Asn700Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693263" }, { "@id": "http://reg.genome.network/allele/PA2828512416", "coordinates": [ { "allele": "A", "end": 2463, "referenceAllele": "T", "start": 2462 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374421.1:c.1929T>A" ], "proteinEffect": { "hgvs": "NP_001361350.1:p.Asn643Lys", "hgvsWellDefined": "NP_001361350.1:p.Asn643Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693264" }, { "@id": "http://reg.genome.network/allele/PA2829727279", "coordinates": [ { "allele": "A", "end": 2763, "referenceAllele": "T", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.3:c.2151T>A" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Asn717Lys", "hgvsWellDefined": "NP_036356.1:p.Asn717Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS697023" }, { "coordinates": [ { "allele": "A", "end": 2697, "referenceAllele": "T", "start": 2696 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NR_164630.1:n.2697T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705747" }, { "@id": "http://reg.genome.network/allele/PA2826242302", "coordinates": [ { "allele": "A", "end": 2637, "referenceAllele": "T", "start": 2636 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.3:c.2103T>A" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Asn701Lys", "hgvsWellDefined": "NP_001186327.1:p.Asn701Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713980" }, { "@id": "http://reg.genome.network/allele/PA2826242709", "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "T", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.3:c.1944T>A" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Asn648Lys", "hgvsWellDefined": "NP_001186328.1:p.Asn648Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713981" }, { "@id": "http://reg.genome.network/allele/PA2826243129", "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "T", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.3:c.2019T>A" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Asn673Lys", "hgvsWellDefined": "NP_001186329.1:p.Asn673Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713982" }, { "@id": "http://reg.genome.network/allele/PA2829727279", "coordinates": [ { "allele": "A", "end": 2763, "referenceAllele": "T", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.4:c.2151T>A" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Asn717Lys", "hgvsWellDefined": "NP_036356.1:p.Asn717Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727853" } ], "type": "nucleotide" }