Linked Data
ClinVar Variation Id:
1757064
ClinVar RCV Id:
RCV002365155
dbSNP Id:
rs267608159
ExAC:
7:6027156 C / CTTT
gnomAD v2:
7-6027156-C-CTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987531_5987533dup , CM000669.2:g.5987531_5987533dup | GRCh38 |
| NC_000007.13:g.6027162_6027164dup , CM000669.1:g.6027162_6027164dup | GRCh37 |
| NC_000007.12:g.5993688_5993690dup | NCBI36 |
| NG_008466.1:g.26579_26581dup , LRG_161:g.26579_26581dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*633_*635dup | ENSP00000514615.2:n.*633_*635dup | |
| ENST00000699840.2:c.1234_1236dup | ENSP00000514638.2:p.Lys412_Asp413insLys | |
| ENST00000699930.2:c.1129_1131dup | ENSP00000514695.2:p.Lys377_Asp378insLys | |
| ENST00000406569.8:c.1237_1239dup | ENSP00000514464.1:p.Lys413_Asp414insLys | |
| ENST00000644110.2:c.*831_*833dup | ENSP00000496392.2:n.*831_*833dup | |
| ENST00000699752.1:c.1081_1083dup | ENSP00000514561.1:p.Lys361_Asp362insLys | |
| ENST00000699753.1:c.*658_*660dup | ENSP00000514562.1:n.*658_*660dup | |
| ENST00000699754.1:c.1039_1041dup | ENSP00000514563.1:p.Lys347_Asp348insLys | |
| ENST00000699755.1:c.*636_*638dup | ENSP00000514564.1:n.*636_*638dup | |
| ENST00000699756.1:c.*824_*826dup | ENSP00000514565.1:n.*824_*826dup | |
| ENST00000699757.1:c.*494_*496dup | ENSP00000514566.1:n.*494_*496dup | |
| ENST00000699758.1:c.*494_*496dup | ENSP00000514567.1:n.*494_*496dup | |
| ENST00000699759.1:n.2091_2093dup | ||
| ENST00000699760.1:c.919_921dup | ENSP00000514568.1:p.Lys307_Asp308insLys | |
| ENST00000699761.1:c.832_834dup | ENSP00000514569.1:p.Lys278_Asp279insLys | |
| ENST00000699762.1:c.664_666dup | ENSP00000514570.1:p.Lys222_Asp223insLys | |
| ENST00000699763.1:c.*327_*329dup | ENSP00000514571.1:n.*327_*329dup | |
| ENST00000699764.1:c.1237_1239dup | ENSP00000514572.1:p.Lys413_Asp414insLys | |
| ENST00000699765.1:c.*333_*335dup | ENSP00000514573.1:n.*333_*335dup | |
| ENST00000699766.1:c.1237_1239dup | ENSP00000514574.1:p.Lys413_Asp414insLys | |
| ENST00000699767.1:c.1237_1239dup | ENSP00000514575.1:p.Lys413_Asp414insLys | |
| ENST00000699768.1:c.1237_1239dup | ENSP00000514576.1:p.Lys413_Asp414insLys | |
| ENST00000699811.1:c.832_834dup | ENSP00000514614.1:p.Lys278_Asp279insLys | |
| ENST00000699813.1:n.1350_1352dup | ||
| ENST00000699814.1:c.860_862dup | ||
| ENST00000699815.1:c.*768_*770dup | ENSP00000514616.1:n.*768_*770dup | |
| ENST00000699816.1:c.*127_*129dup | ENSP00000514617.1:n.*127_*129dup | |
| ENST00000699817.1:c.*831_*833dup | ENSP00000514618.1:n.*831_*833dup | |
| ENST00000699818.1:c.832_834dup | ENSP00000514619.1:p.Lys278_Asp279insLys | |
| ENST00000699819.1:c.*394_*396dup | ENSP00000514620.1:n.*394_*396dup | |
| ENST00000699820.1:c.1144+2272_1144+2274dup | ENSP00000514621.1:n.1144+2272_1144+2274du... | |
| ENST00000699821.1:c.832_834dup | ENSP00000514622.1:p.Lys278_Asp279insLys | |
| ENST00000699822.1:c.*689_*691dup | ENSP00000514623.1:n.*689_*691dup | |
| ENST00000699823.1:c.832_834dup | ENSP00000514624.1:p.Lys278_Asp279insLys | |
| ENST00000699824.1:c.*740_*742dup | ENSP00000514625.1:n.*740_*742dup | |
| ENST00000699825.1:c.676_678dup | ENSP00000514626.1:p.Lys226_Asp227insLys | |
| ENST00000699826.1:c.*636_*638dup | ENSP00000514627.1:n.*636_*638dup | |
| ENST00000699827.1:c.1069_1071dup | ENSP00000514628.1:p.Lys357_Asp358insLys | |
| ENST00000699828.1:c.*327_*329dup | ENSP00000514629.1:n.*327_*329dup | |
| ENST00000699833.1:n.3009_3011dup | ||
| ENST00000699837.1:c.832_834dup | ENSP00000514635.1:p.Lys278_Asp279insLys | |
| ENST00000699838.1:c.*1137_*1139dup | ENSP00000514636.1:n.*1137_*1139dup | |
| ENST00000699839.1:c.1423_1425dup | ENSP00000514637.1:p.Lys475_Asp476insLys | |
| ENST00000699916.1:c.*494_*496dup | ENSP00000514684.1:n.*494_*496dup | |
| ENST00000699917.1:c.*686_*688dup | ENSP00000514685.1:n.*686_*688dup | |
| ENST00000699918.1:c.*738_*740dup | ENSP00000514686.1:n.*738_*740dup | |
| ENST00000699919.1:c.*824_*826dup | ENSP00000514687.1:n.*824_*826dup | |
| ENST00000699920.1:c.*873_*875dup | ENSP00000514688.1:n.*873_*875dup | |
| ENST00000699928.1:c.988+4445_988+4447dup | ENSP00000514693.1:n.988+4445_988+4447dup | |
| ENST00000699929.1:c.*538_*540dup | ENSP00000514694.1:n.*538_*540dup | |
| ENST00000699930.1:c.1129_1131dup | ENSP00000514695.1:p.Lys377_Asp378insLys | |
| ENST00000699931.1:n.2665_2667dup | ||
| ENST00000699951.1:c.*333_*335dup | ENSP00000514706.1:n.*333_*335dup | |
| ENST00000699952.1:c.803+9798_803+9800dup | ENSP00000514707.1:n.803+9798_803+9800dup | |
| ENST00000699953.1:c.*344_*346dup | ENSP00000514708.1:n.*344_*346dup | |
| ENST00000699954.1:c.*538_*540dup | ENSP00000514709.1:n.*538_*540dup | |
| ENST00000265849.12:c.1237_1239dup MANE Select | ENSP00000265849.7:p.Lys413_Asp414insLys | |
| ENST00000642292.1:c.832_834dup | ENSP00000495524.1:p.Lys278_Asp279insLys | |
| ENST00000642456.1:c.832_834dup | ENSP00000493814.1:p.Lys278_Asp279insLys | |
| ENST00000643595.1:c.*636_*638dup | ENSP00000494497.1:n.*636_*638dup | |
| ENST00000644110.1:c.919_921dup | ENSP00000496392.1:p.Lys307_Asp308insLys | |
| ENST00000265849.11:c.1237_1239dup | ENSP00000265849.7:p.Lys413_Asp414insLys | |
| ENST00000382321.5:c.804-4537_804-4535dup | ENSP00000371758.4:n.804-4537_804-4535dup | |
| ENST00000406569.7:n.1237_1239dup | ||
| ENST00000441476.6:c.919_921dup | ENSP00000392843.2:p.Lys307_Asp308insLys | |
| ENST00000469652.1:n.63-4623_63-4621dup | ||
| NM_000535.5:c.1237_1239dup , LRG_161t1:c.1237_1239dup | NP_000526.1:p.Lys413_Asp414insLys | |
| NR_003085.2:n.1319_1321dup | ||
| XM_006715742.2:c.1231_1233dup | XP_006715805.1:p.Lys411_Asp412insLys | |
| XM_006715744.2:c.304_306dup | XP_006715807.1:p.Lys102_Asp103insLys | |
| XM_011515427.1:c.1282_1284dup | XP_011513729.1:p.Lys428_Asp429insLys | |
| XM_011515428.1:c.1126_1128dup | XP_011513730.1:p.Lys376_Asp377insLys | |
| XM_011515429.1:c.919_921dup | XP_011513731.1:p.Lys307_Asp308insLys | |
| XM_011515430.1:c.919_921dup | XP_011513732.1:p.Lys307_Asp308insLys | |
| NM_000535.6:c.1237_1239dup | NP_000526.2:p.Lys413_Asp414insLys | |
| NM_001322003.1:c.832_834dup | NP_001308932.1:p.Lys278_Asp279insLys | |
| NM_001322004.1:c.832_834dup | NP_001308933.1:p.Lys278_Asp279insLys | |
| NM_001322005.1:c.832_834dup | NP_001308934.1:p.Lys278_Asp279insLys | |
| NM_001322006.1:c.1081_1083dup | NP_001308935.1:p.Lys361_Asp362insLys | |
| NM_001322007.1:c.919_921dup | NP_001308936.1:p.Lys307_Asp308insLys | |
| NM_001322008.1:c.919_921dup | NP_001308937.1:p.Lys307_Asp308insLys | |
| NM_001322009.1:c.832_834dup | NP_001308938.1:p.Lys278_Asp279insLys | |
| NM_001322010.1:c.676_678dup | NP_001308939.1:p.Lys226_Asp227insLys | |
| NM_001322011.1:c.304_306dup | NP_001308940.1:p.Lys102_Asp103insLys | |
| NM_001322012.1:c.304_306dup | NP_001308941.1:p.Lys102_Asp103insLys | |
| NM_001322013.1:c.664_666dup | NP_001308942.1:p.Lys222_Asp223insLys | |
| NM_001322014.1:c.1237_1239dup | NP_001308943.1:p.Lys413_Asp414insLys | |
| NM_001322015.1:c.928_930dup | NP_001308944.1:p.Lys310_Asp311insLys | |
| NR_136154.1:n.1324_1326dup | ||
| XM_006715744.4:c.304_306dup | XP_006715807.1:p.Lys102_Asp103insLys | |
| XM_017012342.2:c.304_306dup | XP_016867831.1:p.Lys102_Asp103insLys | |
| XM_024446800.1:c.676_678dup | XP_024302568.1:p.Lys226_Asp227insLys | |
| NM_000535.7:c.1237_1239dup MANE Select | NP_000526.2:p.Lys413_Asp414insLys | |
| NM_001322003.2:c.832_834dup | NP_001308932.1:p.Lys278_Asp279insLys | |
| NM_001322004.2:c.832_834dup | NP_001308933.1:p.Lys278_Asp279insLys | |
| NM_001322005.2:c.832_834dup | NP_001308934.1:p.Lys278_Asp279insLys | |
| NM_001322006.2:c.1081_1083dup | NP_001308935.1:p.Lys361_Asp362insLys | |
| NM_001322008.2:c.919_921dup | NP_001308937.1:p.Lys307_Asp308insLys | |
| NM_001322009.2:c.832_834dup | NP_001308938.1:p.Lys278_Asp279insLys | |
| NM_001322010.2:c.676_678dup | NP_001308939.1:p.Lys226_Asp227insLys | |
| NM_001322011.2:c.304_306dup | NP_001308940.1:p.Lys102_Asp103insLys | |
| NM_001322012.2:c.304_306dup | NP_001308941.1:p.Lys102_Asp103insLys | |
| NM_001322013.2:c.664_666dup | NP_001308942.1:p.Lys222_Asp223insLys | |
| NM_001322014.2:c.1237_1239dup | NP_001308943.1:p.Lys413_Asp414insLys | |
| NM_001322015.2:c.928_930dup | NP_001308944.1:p.Lys310_Asp311insLys | |
| NM_001322007.2:c.919_921dup | NP_001308936.1:p.Lys307_Asp308insLys |