Linked Data
ClinVar Variation Id:
200963
dbSNP Id:
rs794728612
MyVariant Identifiers:
chr1:g.156107547_156107548delinsTC (hg19)
chr1:g.156137756_156137757delinsTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137756_156137757delinsTC , CM000663.2:g.156137756_156137757delinsTC | GRCh38 |
| NC_000001.10:g.156107547_156107548delinsTC , CM000663.1:g.156107547_156107548delinsTC | GRCh37 |
| NC_000001.9:g.154374171_154374172delinsTC | NCBI36 |
| NG_008692.2:g.60184_60185delinsTC , LRG_254:g.60184_60185delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1140+13_1140+14delinsTC | ENSP00000426535.3:n.1140+13_1140+14delinsTC | |
| ENST00000498722.3:n.943_944delinsTC | ||
| ENST00000682650.1:c.1608+524_1608+525delinsTC | ENSP00000506904.1:n.1608+524_1608+525delinsTC | |
| ENST00000683032.1:c.1698+13_1698+14delinsTC | ENSP00000506771.1:n.1698+13_1698+14delinsTC | |
| ENST00000683773.1:n.43+13_43+14delinsTC | ||
| ENST00000684195.1:c.*59_*60delinsTC | ENSP00000508220.1:n.*59_*60delinsTC | |
| ENST00000361308.9:c.1698+13_1698+14delinsTC | ENSP00000355292.6:n.1698+13_1698+14delinsTC | |
| ENST00000368300.9:c.1698+13_1698+14delinsTC MANE Select | ENSP00000357283.4:n.1698+13_1698+14delinsTC | |
| ENST00000496738.6:n.2170_2171delinsTC | ||
| ENST00000674518.1:c.*1048+13_*1048+14delinsTC | ENSP00000502261.1:n.*1048+13_*1048+14delinsTC | |
| ENST00000674600.1:c.*1497+13_*1497+14delinsTC | ENSP00000501666.1:n.*1497+13_*1497+14delinsTC | |
| ENST00000674720.1:c.*273_*274delinsTC | ENSP00000502798.1:n.*273_*274delinsTC | |
| ENST00000675431.1:n.1404_1405delinsTC | ||
| ENST00000675455.1:c.*1498+13_*1498+14delinsTC | ENSP00000501795.1:n.*1498+13_*1498+14delinsTC | |
| ENST00000675667.1:c.1698+13_1698+14delinsTC | ENSP00000501803.1:n.1698+13_1698+14delinsTC | |
| ENST00000675874.1:c.*1169+13_*1169+14delinsTC | ENSP00000501851.1:n.*1169+13_*1169+14delinsTC | |
| ENST00000675881.1:c.*709+13_*709+14delinsTC | ENSP00000501670.1:n.*709+13_*709+14delinsTC | |
| ENST00000675939.1:c.1698+13_1698+14delinsTC | ENSP00000502256.1:n.1698+13_1698+14delinsTC | |
| ENST00000675989.1:n.2570_2571delinsTC | ||
| ENST00000676208.1:c.*801+13_*801+14delinsTC | ENSP00000502468.1:n.*801+13_*801+14delinsTC | |
| ENST00000676283.1:n.2507_2508delinsTC | ||
| ENST00000676385.2:c.1608+524_1608+525delinsTC | ENSP00000502091.1:n.1608+524_1608+525delinsTC | |
| ENST00000676434.1:c.*722_*723delinsTC | ENSP00000501648.1:n.*722_*723delinsTC | |
| ENST00000677389.1:c.1711_1712delinsTC MANE Plus Clinical | ENSP00000503633.1:p.Arg571Ser | |
| ENST00000347559.6:c.1608+524_1608+525delinsTC | ENSP00000292304.3:n.1608+524_1608+525delinsTC | |
| ENST00000361308.8:c.1456_1457delinsTC | ENSP00000355292.5:p.Arg486Ser | |
| ENST00000368297.5:c.1468_1469delinsTC | ENSP00000357280.1:p.Arg490Ser | |
| ENST00000368299.7:c.1698+13_1698+14delinsTC | ENSP00000357282.3:n.1698+13_1698+14delinsTC | |
| ENST00000368300.8:c.1698+13_1698+14delinsTC | ENSP00000357283.4:n.1698+13_1698+14delinsTC | |
| ENST00000368301.6:c.1711_1712delinsTC | ENSP00000357284.2:p.Arg571Ser | |
| ENST00000448611.6:c.1362+13_1362+14delinsTC | ENSP00000395597.2:n.1362+13_1362+14delinsTC | |
| ENST00000473598.6:c.1401+13_1401+14delinsTC | ENSP00000421821.1:n.1401+13_1401+14delinsTC | |
| ENST00000496738.5:n.1180_1181delinsTC | ||
| ENST00000498722.2:n.943_944delinsTC | ||
| ENST00000506981.1:n.282+13_282+14delinsTC | ||
| ENST00000508500.1:c.486+524_486+525delinsTC | ENSP00000424977.1:n.486+524_486+525delinsTC | |
| NM_001257374.2:c.1362+13_1362+14delinsTC | NP_001244303.1:n.1362+13_1362+14delinsTC | |
| NM_001282624.1:c.1468_1469delinsTC | NP_001269553.1:p.Arg490Ser | |
| NM_001282625.1:c.1711_1712delinsTC | NP_001269554.1:p.Arg571Ser | |
| NM_001282626.1:c.1698+13_1698+14delinsTC | NP_001269555.1:n.1698+13_1698+14delinsTC | |
| NM_005572.3:c.1711_1712delinsTC , LRG_254t1:c.1711_1712delinsTC | NP_005563.1:p.Arg571Ser | |
| NM_170707.3:c.1698+13_1698+14delinsTC | NP_733821.1:n.1698+13_1698+14delinsTC | |
| NM_170708.3:c.1608+524_1608+525delinsTC | NP_733822.1:n.1608+524_1608+525delinsTC | |
| XM_011509533.1:c.1362+13_1362+14delinsTC | XP_011507835.1:n.1362+13_1362+14delinsTC | |
| XM_011509534.1:c.1074+13_1074+14delinsTC | XP_011507836.1:n.1074+13_1074+14delinsTC | |
| XR_921781.1:n.1987+13_1987+14delinsTC | ||
| XM_011509534.2:c.1074+13_1074+14delinsTC | XP_011507836.1:n.1074+13_1074+14delinsTC | |
| XR_921781.2:n.1985+13_1985+14delinsTC | ||
| NM_170707.4:c.1698+13_1698+14delinsTC MANE Select | NP_733821.1:n.1698+13_1698+14delinsTC | |
| NM_001257374.3:c.1362+13_1362+14delinsTC | NP_001244303.1:n.1362+13_1362+14delinsTC | |
| NM_001282626.2:c.1698+13_1698+14delinsTC | NP_001269555.1:n.1698+13_1698+14delinsTC | |
| NM_001282624.2:c.1468_1469delinsTC | NP_001269553.1:p.Arg490Ser | |
| NM_001282625.2:c.1711_1712delinsTC | NP_001269554.1:p.Arg571Ser | |
| NM_005572.4:c.1711_1712delinsTC MANE Plus Clinical | NP_005563.1:p.Arg571Ser | |
| NM_170708.4:c.1608+524_1608+525delinsTC | NP_733822.1:n.1608+524_1608+525delinsTC |