MyVariant.info:
GRCh38
chr7:g.5987459dupT
GRCh38
chr7:g.5987458_5987459insT
GRCh37
chr7:g.6027090dupT
GRCh37
chr7:g.6027089_6027090insT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987459dup , CM000669.2:g.5987459dup | GRCh38 |
| NC_000007.13:g.6027090dup , CM000669.1:g.6027090dup | GRCh37 |
| NC_000007.12:g.5993616dup | NCBI36 |
| NG_008466.1:g.26648dup , LRG_161:g.26648dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*702dup | ENSP00000514615.2:n.*702dup | |
| ENST00000699840.2:c.1303dup | ENSP00000514638.2:p.Ser435LysfsTer22 | |
| ENST00000699930.2:c.1198dup | ENSP00000514695.2:p.Ser400LysfsTer22 | |
| ENST00000406569.8:c.1306dup | ENSP00000514464.1:p.Ser436LysfsTer22 | |
| ENST00000644110.2:c.*900dup | ENSP00000496392.2:n.*900dup | |
| ENST00000699752.1:c.1150dup | ENSP00000514561.1:p.Ser384LysfsTer22 | |
| ENST00000699753.1:c.*727dup | ENSP00000514562.1:n.*727dup | |
| ENST00000699754.1:c.1108dup | ENSP00000514563.1:p.Ser370LysfsTer22 | |
| ENST00000699755.1:c.*705dup | ENSP00000514564.1:n.*705dup | |
| ENST00000699756.1:c.*893dup | ENSP00000514565.1:n.*893dup | |
| ENST00000699757.1:c.*563dup | ENSP00000514566.1:n.*563dup | |
| ENST00000699758.1:c.*563dup | ENSP00000514567.1:n.*563dup | |
| ENST00000699759.1:n.2160dup | ||
| ENST00000699760.1:c.988dup | ENSP00000514568.1:p.Ser330LysfsTer22 | |
| ENST00000699761.1:c.901dup | ENSP00000514569.1:p.Ser301LysfsTer22 | |
| ENST00000699762.1:c.733dup | ENSP00000514570.1:p.Ser245LysfsTer22 | |
| ENST00000699763.1:c.*396dup | ENSP00000514571.1:n.*396dup | |
| ENST00000699764.1:c.1306dup | ENSP00000514572.1:p.Ser436LysfsTer22 | |
| ENST00000699765.1:c.*402dup | ENSP00000514573.1:n.*402dup | |
| ENST00000699766.1:c.1306dup | ENSP00000514574.1:p.Ser436LysfsTer22 | |
| ENST00000699767.1:c.1306dup | ENSP00000514575.1:p.Ser436LysfsTer22 | |
| ENST00000699768.1:c.1306dup | ENSP00000514576.1:p.Ser436LysfsTer22 | |
| ENST00000699811.1:c.901dup | ENSP00000514614.1:p.Ser301LysfsTer22 | |
| ENST00000699813.1:n.1419dup | ||
| ENST00000699814.1:c.929dup | ||
| ENST00000699815.1:c.*837dup | ENSP00000514616.1:n.*837dup | |
| ENST00000699816.1:c.*196dup | ENSP00000514617.1:n.*196dup | |
| ENST00000699817.1:c.*900dup | ENSP00000514618.1:n.*900dup | |
| ENST00000699818.1:c.901dup | ENSP00000514619.1:p.Ser301LysfsTer22 | |
| ENST00000699819.1:c.*463dup | ENSP00000514620.1:n.*463dup | |
| ENST00000699820.1:c.1144+2341dup | ENSP00000514621.1:n.1144+2341dup | |
| ENST00000699821.1:c.901dup | ENSP00000514622.1:p.Ser301LysfsTer22 | |
| ENST00000699822.1:c.*758dup | ENSP00000514623.1:n.*758dup | |
| ENST00000699823.1:c.901dup | ENSP00000514624.1:p.Ser301LysfsTer22 | |
| ENST00000699824.1:c.*809dup | ENSP00000514625.1:n.*809dup | |
| ENST00000699825.1:c.745dup | ENSP00000514626.1:p.Ser249LysfsTer22 | |
| ENST00000699826.1:c.*705dup | ENSP00000514627.1:n.*705dup | |
| ENST00000699827.1:c.1138dup | ENSP00000514628.1:p.Ser380LysfsTer22 | |
| ENST00000699828.1:c.*396dup | ENSP00000514629.1:n.*396dup | |
| ENST00000699833.1:n.3078dup | ||
| ENST00000699837.1:c.901dup | ENSP00000514635.1:p.Ser301LysfsTer22 | |
| ENST00000699838.1:c.*1206dup | ENSP00000514636.1:n.*1206dup | |
| ENST00000699839.1:c.1492dup | ENSP00000514637.1:p.Ser498LysfsTer22 | |
| ENST00000699916.1:c.*563dup | ENSP00000514684.1:n.*563dup | |
| ENST00000699917.1:c.*755dup | ENSP00000514685.1:n.*755dup | |
| ENST00000699918.1:c.*807dup | ENSP00000514686.1:n.*807dup | |
| ENST00000699919.1:c.*893dup | ENSP00000514687.1:n.*893dup | |
| ENST00000699920.1:c.*942dup | ENSP00000514688.1:n.*942dup | |
| ENST00000699928.1:c.989-4468dup | ENSP00000514693.1:n.989-4468dup | |
| ENST00000699929.1:c.*607dup | ENSP00000514694.1:n.*607dup | |
| ENST00000699930.1:c.1198dup | ENSP00000514695.1:p.Ser400LysfsTer22 | |
| ENST00000699931.1:n.2734dup | ||
| ENST00000699951.1:c.*402dup | ENSP00000514706.1:n.*402dup | |
| ENST00000699952.1:c.803+9867dup | ENSP00000514707.1:n.803+9867dup | |
| ENST00000699953.1:c.*413dup | ENSP00000514708.1:n.*413dup | |
| ENST00000699954.1:c.*607dup | ENSP00000514709.1:n.*607dup | |
| ENST00000265849.12:c.1306dup MANE Select | ENSP00000265849.7:p.Ser436LysfsTer22 | |
| ENST00000642292.1:c.901dup | ENSP00000495524.1:p.Ser301LysfsTer22 | |
| ENST00000642456.1:c.901dup | ENSP00000493814.1:p.Ser301LysfsTer22 | |
| ENST00000643595.1:c.*705dup | ENSP00000494497.1:n.*705dup | |
| ENST00000644110.1:c.988dup | ENSP00000496392.1:p.Ser330LysfsTer22 | |
| ENST00000265849.11:c.1306dup | ENSP00000265849.7:p.Ser436LysfsTer22 | |
| ENST00000382321.5:c.804-4468dup | ENSP00000371758.4:n.804-4468dup | |
| ENST00000406569.7:n.1306dup | ||
| ENST00000441476.6:c.988dup | ENSP00000392843.2:p.Ser330LysfsTer22 | |
| ENST00000469652.1:n.63-4554dup | ||
| NM_000535.5:c.1306dup , LRG_161t1:c.1306dup | NP_000526.1:p.Ser436LysfsTer22 | |
| NR_003085.2:n.1388dup | ||
| XM_006715742.2:c.1300dup | XP_006715805.1:p.Ser434LysfsTer22 | |
| XM_006715744.2:c.373dup | XP_006715807.1:p.Ser125LysfsTer22 | |
| XM_011515427.1:c.1351dup | XP_011513729.1:p.Ser451LysfsTer22 | |
| XM_011515428.1:c.1195dup | XP_011513730.1:p.Ser399LysfsTer22 | |
| XM_011515429.1:c.988dup | XP_011513731.1:p.Ser330LysfsTer22 | |
| XM_011515430.1:c.988dup | XP_011513732.1:p.Ser330LysfsTer22 | |
| NM_000535.6:c.1306dup | NP_000526.2:p.Ser436LysfsTer22 | |
| NM_001322003.1:c.901dup | NP_001308932.1:p.Ser301LysfsTer22 | |
| NM_001322004.1:c.901dup | NP_001308933.1:p.Ser301LysfsTer22 | |
| NM_001322005.1:c.901dup | NP_001308934.1:p.Ser301LysfsTer22 | |
| NM_001322006.1:c.1150dup | NP_001308935.1:p.Ser384LysfsTer22 | |
| NM_001322007.1:c.988dup | NP_001308936.1:p.Ser330LysfsTer22 | |
| NM_001322008.1:c.988dup | NP_001308937.1:p.Ser330LysfsTer22 | |
| NM_001322009.1:c.901dup | NP_001308938.1:p.Ser301LysfsTer22 | |
| NM_001322010.1:c.745dup | NP_001308939.1:p.Ser249LysfsTer22 | |
| NM_001322011.1:c.373dup | NP_001308940.1:p.Ser125LysfsTer22 | |
| NM_001322012.1:c.373dup | NP_001308941.1:p.Ser125LysfsTer22 | |
| NM_001322013.1:c.733dup | NP_001308942.1:p.Ser245LysfsTer22 | |
| NM_001322014.1:c.1306dup | NP_001308943.1:p.Ser436LysfsTer22 | |
| NM_001322015.1:c.997dup | NP_001308944.1:p.Ser333LysfsTer22 | |
| NR_136154.1:n.1393dup | ||
| XM_006715744.4:c.373dup | XP_006715807.1:p.Ser125LysfsTer22 | |
| XM_017012342.2:c.373dup | XP_016867831.1:p.Ser125LysfsTer22 | |
| XM_024446800.1:c.745dup | XP_024302568.1:p.Ser249LysfsTer22 | |
| NM_000535.7:c.1306dup MANE Select | NP_000526.2:p.Ser436LysfsTer22 | |
| NM_001322003.2:c.901dup | NP_001308932.1:p.Ser301LysfsTer22 | |
| NM_001322004.2:c.901dup | NP_001308933.1:p.Ser301LysfsTer22 | |
| NM_001322005.2:c.901dup | NP_001308934.1:p.Ser301LysfsTer22 | |
| NM_001322006.2:c.1150dup | NP_001308935.1:p.Ser384LysfsTer22 | |
| NM_001322008.2:c.988dup | NP_001308937.1:p.Ser330LysfsTer22 | |
| NM_001322009.2:c.901dup | NP_001308938.1:p.Ser301LysfsTer22 | |
| NM_001322010.2:c.745dup | NP_001308939.1:p.Ser249LysfsTer22 | |
| NM_001322011.2:c.373dup | NP_001308940.1:p.Ser125LysfsTer22 | |
| NM_001322012.2:c.373dup | NP_001308941.1:p.Ser125LysfsTer22 | |
| NM_001322013.2:c.733dup | NP_001308942.1:p.Ser245LysfsTer22 | |
| NM_001322014.2:c.1306dup | NP_001308943.1:p.Ser436LysfsTer22 | |
| NM_001322015.2:c.997dup | NP_001308944.1:p.Ser333LysfsTer22 | |
| NM_001322007.2:c.988dup | NP_001308936.1:p.Ser330LysfsTer22 |