Linked Data
ClinVar Variation Id:
411059
dbSNP Id:
rs1060503137
gnomAD v2:
7-6026530-CAT-C
gnomAD v4:
7-5986899-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5986901_5986902del , CM000669.2:g.5986901_5986902del | GRCh38 |
| NC_000007.13:g.6026532_6026533del , CM000669.1:g.6026532_6026533del | GRCh37 |
| NC_000007.12:g.5993058_5993059del | NCBI36 |
| NG_008466.1:g.27206_27207del , LRG_161:g.27206_27207del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1260_*1261del | ENSP00000514615.2:n.*1260_*1261del | |
| ENST00000699840.2:c.1861_1862del | ENSP00000514638.2:p.Met621GlufsTer5 | |
| ENST00000699930.2:c.1756_1757del | ENSP00000514695.2:p.Met586GlufsTer5 | |
| ENST00000406569.8:c.1678+186_1678+187del | ENSP00000514464.1:n.1678+186_1678+187del | |
| ENST00000644110.2:c.*1458_*1459del | ENSP00000496392.2:n.*1458_*1459del | |
| ENST00000699752.1:c.1708_1709del | ENSP00000514561.1:p.Met570GlufsTer5 | |
| ENST00000699753.1:c.*1285_*1286del | ENSP00000514562.1:n.*1285_*1286del | |
| ENST00000699754.1:c.1666_1667del | ENSP00000514563.1:p.Met556GlufsTer5 | |
| ENST00000699755.1:c.*1263_*1264del | ENSP00000514564.1:n.*1263_*1264del | |
| ENST00000699756.1:c.*1451_*1452del | ENSP00000514565.1:n.*1451_*1452del | |
| ENST00000699757.1:c.*1121_*1122del | ENSP00000514566.1:n.*1121_*1122del | |
| ENST00000699758.1:c.*1121_*1122del | ENSP00000514567.1:n.*1121_*1122del | |
| ENST00000699759.1:n.2718_2719del | ||
| ENST00000699760.1:c.1546_1547del | ENSP00000514568.1:p.Met516GlufsTer5 | |
| ENST00000699761.1:c.1459_1460del | ENSP00000514569.1:p.Met487GlufsTer5 | |
| ENST00000699762.1:c.1291_1292del | ENSP00000514570.1:p.Met431GlufsTer5 | |
| ENST00000699763.1:c.*954_*955del | ENSP00000514571.1:n.*954_*955del | |
| ENST00000699764.1:c.*182_*183del | ENSP00000514572.1:n.*182_*183del | |
| ENST00000699765.1:c.*960_*961del | ENSP00000514573.1:n.*960_*961del | |
| ENST00000699766.1:c.1864_1865del | ENSP00000514574.1:p.Met622GlufsTer5 | |
| ENST00000699767.1:c.1864_1865del | ENSP00000514575.1:p.Met622GlufsTer5 | |
| ENST00000699768.1:c.1864_1865del | ENSP00000514576.1:p.Met622GlufsTer5 | |
| ENST00000699811.1:c.1459_1460del | ENSP00000514614.1:p.Met487GlufsTer5 | |
| ENST00000699813.1:n.1977_1978del | ||
| ENST00000699814.1:c.1487_1488del | ||
| ENST00000699815.1:c.*1395_*1396del | ENSP00000514616.1:n.*1395_*1396del | |
| ENST00000699816.1:c.*754_*755del | ENSP00000514617.1:n.*754_*755del | |
| ENST00000699817.1:c.*1458_*1459del | ENSP00000514618.1:n.*1458_*1459del | |
| ENST00000699818.1:c.1459_1460del | ENSP00000514619.1:p.Met487GlufsTer5 | |
| ENST00000699819.1:c.*1021_*1022del | ENSP00000514620.1:n.*1021_*1022del | |
| ENST00000699820.1:c.1144+2899_1144+2900del | ENSP00000514621.1:n.1144+2899_1144+2900de... | |
| ENST00000699821.1:c.1459_1460del | ENSP00000514622.1:p.Met487GlufsTer5 | |
| ENST00000699822.1:c.*1316_*1317del | ENSP00000514623.1:n.*1316_*1317del | |
| ENST00000699823.1:c.1459_1460del | ENSP00000514624.1:p.Met487GlufsTer5 | |
| ENST00000699824.1:c.*1367_*1368del | ENSP00000514625.1:n.*1367_*1368del | |
| ENST00000699825.1:c.1303_1304del | ENSP00000514626.1:p.Met435GlufsTer5 | |
| ENST00000699826.1:c.*1263_*1264del | ENSP00000514627.1:n.*1263_*1264del | |
| ENST00000699827.1:c.1696_1697del | ENSP00000514628.1:p.Met566GlufsTer5 | |
| ENST00000699828.1:c.*954_*955del | ENSP00000514629.1:n.*954_*955del | |
| ENST00000699833.1:n.3636_3637del | ||
| ENST00000699837.1:c.1459_1460del | ENSP00000514635.1:p.Met487GlufsTer5 | |
| ENST00000699838.1:c.*1764_*1765del | ENSP00000514636.1:n.*1764_*1765del | |
| ENST00000699839.1:c.2050_2051del | ENSP00000514637.1:p.Met684GlufsTer5 | |
| ENST00000699916.1:c.*1121_*1122del | ENSP00000514684.1:n.*1121_*1122del | |
| ENST00000699917.1:c.*1313_*1314del | ENSP00000514685.1:n.*1313_*1314del | |
| ENST00000699918.1:c.*1365_*1366del | ENSP00000514686.1:n.*1365_*1366del | |
| ENST00000699919.1:c.*1451_*1452del | ENSP00000514687.1:n.*1451_*1452del | |
| ENST00000699920.1:c.*1500_*1501del | ENSP00000514688.1:n.*1500_*1501del | |
| ENST00000699928.1:c.989-3910_989-3909del | ENSP00000514693.1:n.989-3910_989-3909del | |
| ENST00000699951.1:c.*960_*961del | ENSP00000514706.1:n.*960_*961del | |
| ENST00000699952.1:c.803+10425_803+10426del | ENSP00000514707.1:n.803+10425_803+10426de... | |
| ENST00000265849.12:c.1864_1865del MANE Select | ENSP00000265849.7:p.Met622GlufsTer5 | |
| ENST00000642292.1:c.1459_1460del | ENSP00000495524.1:p.Met487GlufsTer5 | |
| ENST00000642456.1:c.1459_1460del | ENSP00000493814.1:p.Met487GlufsTer5 | |
| ENST00000643595.1:c.*1263_*1264del | ENSP00000494497.1:n.*1263_*1264del | |
| ENST00000644110.1:c.1546_1547del | ENSP00000496392.1:p.Met516GlufsTer5 | |
| ENST00000265849.11:c.1864_1865del | ENSP00000265849.7:p.Met622GlufsTer5 | |
| ENST00000382321.5:c.804-3910_804-3909del | ENSP00000371758.4:n.804-3910_804-3909del | |
| ENST00000406569.7:n.1678+186_1678+187del | ||
| ENST00000441476.6:c.1546_1547del | ENSP00000392843.2:p.Met516GlufsTer5 | |
| ENST00000469652.1:n.63-3996_63-3995del | ||
| NM_000535.5:c.1864_1865del , LRG_161t1:c.1864_1865del | NP_000526.1:p.Met622GlufsTer5 | |
| NR_003085.2:n.1946_1947del | ||
| XM_006715742.2:c.1858_1859del | XP_006715805.1:p.Met620GlufsTer5 | |
| XM_006715744.2:c.931_932del | XP_006715807.1:p.Met311GlufsTer5 | |
| XM_011515427.1:c.1909_1910del | XP_011513729.1:p.Met637GlufsTer5 | |
| XM_011515428.1:c.1753_1754del | XP_011513730.1:p.Met585GlufsTer5 | |
| XM_011515429.1:c.1546_1547del | XP_011513731.1:p.Met516GlufsTer5 | |
| XM_011515430.1:c.1546_1547del | XP_011513732.1:p.Met516GlufsTer5 | |
| NM_000535.6:c.1864_1865del | NP_000526.2:p.Met622GlufsTer5 | |
| NM_001322003.1:c.1459_1460del | NP_001308932.1:p.Met487GlufsTer5 | |
| NM_001322004.1:c.1459_1460del | NP_001308933.1:p.Met487GlufsTer5 | |
| NM_001322005.1:c.1459_1460del | NP_001308934.1:p.Met487GlufsTer5 | |
| NM_001322006.1:c.1708_1709del | NP_001308935.1:p.Met570GlufsTer5 | |
| NM_001322007.1:c.1546_1547del | NP_001308936.1:p.Met516GlufsTer5 | |
| NM_001322008.1:c.1546_1547del | NP_001308937.1:p.Met516GlufsTer5 | |
| NM_001322009.1:c.1459_1460del | NP_001308938.1:p.Met487GlufsTer5 | |
| NM_001322010.1:c.1303_1304del | NP_001308939.1:p.Met435GlufsTer5 | |
| NM_001322011.1:c.931_932del | NP_001308940.1:p.Met311GlufsTer5 | |
| NM_001322012.1:c.931_932del | NP_001308941.1:p.Met311GlufsTer5 | |
| NM_001322013.1:c.1291_1292del | NP_001308942.1:p.Met431GlufsTer5 | |
| NM_001322014.1:c.1864_1865del | NP_001308943.1:p.Met622GlufsTer5 | |
| NM_001322015.1:c.1555_1556del | NP_001308944.1:p.Met519GlufsTer5 | |
| NR_136154.1:n.1951_1952del | ||
| XM_006715744.4:c.931_932del | XP_006715807.1:p.Met311GlufsTer5 | |
| XM_017012342.2:c.931_932del | XP_016867831.1:p.Met311GlufsTer5 | |
| XM_024446800.1:c.1303_1304del | XP_024302568.1:p.Met435GlufsTer5 | |
| NM_000535.7:c.1864_1865del MANE Select | NP_000526.2:p.Met622GlufsTer5 | |
| NM_001322003.2:c.1459_1460del | NP_001308932.1:p.Met487GlufsTer5 | |
| NM_001322004.2:c.1459_1460del | NP_001308933.1:p.Met487GlufsTer5 | |
| NM_001322005.2:c.1459_1460del | NP_001308934.1:p.Met487GlufsTer5 | |
| NM_001322006.2:c.1708_1709del | NP_001308935.1:p.Met570GlufsTer5 | |
| NM_001322008.2:c.1546_1547del | NP_001308937.1:p.Met516GlufsTer5 | |
| NM_001322009.2:c.1459_1460del | NP_001308938.1:p.Met487GlufsTer5 | |
| NM_001322010.2:c.1303_1304del | NP_001308939.1:p.Met435GlufsTer5 | |
| NM_001322011.2:c.931_932del | NP_001308940.1:p.Met311GlufsTer5 | |
| NM_001322012.2:c.931_932del | NP_001308941.1:p.Met311GlufsTer5 | |
| NM_001322013.2:c.1291_1292del | NP_001308942.1:p.Met431GlufsTer5 | |
| NM_001322014.2:c.1864_1865del | NP_001308943.1:p.Met622GlufsTer5 | |
| NM_001322015.2:c.1555_1556del | NP_001308944.1:p.Met519GlufsTer5 | |
| NM_001322007.2:c.1546_1547del | NP_001308936.1:p.Met516GlufsTer5 |