SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs2128721999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5986893_5986894insC , CM000669.2:g.5986893_5986894insC | GRCh38 |
| NC_000007.13:g.6026524_6026525insC , CM000669.1:g.6026524_6026525insC | GRCh37 |
| NC_000007.12:g.5993050_5993051insC | NCBI36 |
| NG_008466.1:g.27213_27214insG , LRG_161:g.27213_27214insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1267_*1268insG | ENSP00000514615.2:n.*1267_*1268insG | |
| ENST00000699840.2:c.1868_1869insG | ENSP00000514638.2:p.Leu624PhefsTer3 | |
| ENST00000699930.2:c.1763_1764insG | ENSP00000514695.2:p.Leu589PhefsTer3 | |
| ENST00000406569.8:c.1678+193_1678+194insG | ENSP00000514464.1:n.1678+193_1678+194insG | |
| ENST00000644110.2:c.*1465_*1466insG | ENSP00000496392.2:n.*1465_*1466insG | |
| ENST00000699752.1:c.1715_1716insG | ENSP00000514561.1:p.Leu573PhefsTer3 | |
| ENST00000699753.1:c.*1292_*1293insG | ENSP00000514562.1:n.*1292_*1293insG | |
| ENST00000699754.1:c.1673_1674insG | ENSP00000514563.1:p.Leu559PhefsTer3 | |
| ENST00000699755.1:c.*1270_*1271insG | ENSP00000514564.1:n.*1270_*1271insG | |
| ENST00000699756.1:c.*1458_*1459insG | ENSP00000514565.1:n.*1458_*1459insG | |
| ENST00000699757.1:c.*1128_*1129insG | ENSP00000514566.1:n.*1128_*1129insG | |
| ENST00000699758.1:c.*1128_*1129insG | ENSP00000514567.1:n.*1128_*1129insG | |
| ENST00000699759.1:n.2725_2726insG | ||
| ENST00000699760.1:c.1553_1554insG | ENSP00000514568.1:p.Leu519PhefsTer3 | |
| ENST00000699761.1:c.1466_1467insG | ENSP00000514569.1:p.Leu490PhefsTer3 | |
| ENST00000699762.1:c.1298_1299insG | ENSP00000514570.1:p.Leu434PhefsTer3 | |
| ENST00000699763.1:c.*961_*962insG | ENSP00000514571.1:n.*961_*962insG | |
| ENST00000699764.1:c.*189_*190insG | ENSP00000514572.1:n.*189_*190insG | |
| ENST00000699765.1:c.*967_*968insG | ENSP00000514573.1:n.*967_*968insG | |
| ENST00000699766.1:c.1871_1872insG | ENSP00000514574.1:p.Leu625PhefsTer3 | |
| ENST00000699767.1:c.1871_1872insG | ENSP00000514575.1:p.Leu625PhefsTer3 | |
| ENST00000699768.1:c.1871_1872insG | ENSP00000514576.1:p.Leu625PhefsTer3 | |
| ENST00000699811.1:c.1466_1467insG | ENSP00000514614.1:p.Leu490PhefsTer3 | |
| ENST00000699813.1:n.1984_1985insG | ||
| ENST00000699814.1:c.1494_1495insG | ||
| ENST00000699815.1:c.*1402_*1403insG | ENSP00000514616.1:n.*1402_*1403insG | |
| ENST00000699816.1:c.*761_*762insG | ENSP00000514617.1:n.*761_*762insG | |
| ENST00000699817.1:c.*1465_*1466insG | ENSP00000514618.1:n.*1465_*1466insG | |
| ENST00000699818.1:c.1466_1467insG | ENSP00000514619.1:p.Leu490PhefsTer3 | |
| ENST00000699819.1:c.*1028_*1029insG | ENSP00000514620.1:n.*1028_*1029insG | |
| ENST00000699820.1:c.1144+2906_1144+2907insG | ENSP00000514621.1:n.1144+2906_1144+2907insG | |
| ENST00000699821.1:c.1466_1467insG | ENSP00000514622.1:p.Leu490PhefsTer3 | |
| ENST00000699822.1:c.*1323_*1324insG | ENSP00000514623.1:n.*1323_*1324insG | |
| ENST00000699823.1:c.1466_1467insG | ENSP00000514624.1:p.Leu490PhefsTer3 | |
| ENST00000699824.1:c.*1374_*1375insG | ENSP00000514625.1:n.*1374_*1375insG | |
| ENST00000699825.1:c.1310_1311insG | ENSP00000514626.1:p.Leu438PhefsTer3 | |
| ENST00000699826.1:c.*1270_*1271insG | ENSP00000514627.1:n.*1270_*1271insG | |
| ENST00000699827.1:c.1703_1704insG | ENSP00000514628.1:p.Leu569PhefsTer3 | |
| ENST00000699828.1:c.*961_*962insG | ENSP00000514629.1:n.*961_*962insG | |
| ENST00000699833.1:n.3643_3644insG | ||
| ENST00000699837.1:c.1466_1467insG | ENSP00000514635.1:p.Leu490PhefsTer3 | |
| ENST00000699838.1:c.*1771_*1772insG | ENSP00000514636.1:n.*1771_*1772insG | |
| ENST00000699839.1:c.2057_2058insG | ENSP00000514637.1:p.Leu687PhefsTer3 | |
| ENST00000699916.1:c.*1128_*1129insG | ENSP00000514684.1:n.*1128_*1129insG | |
| ENST00000699917.1:c.*1320_*1321insG | ENSP00000514685.1:n.*1320_*1321insG | |
| ENST00000699918.1:c.*1372_*1373insG | ENSP00000514686.1:n.*1372_*1373insG | |
| ENST00000699919.1:c.*1458_*1459insG | ENSP00000514687.1:n.*1458_*1459insG | |
| ENST00000699920.1:c.*1507_*1508insG | ENSP00000514688.1:n.*1507_*1508insG | |
| ENST00000699928.1:c.989-3903_989-3902insG | ENSP00000514693.1:n.989-3903_989-3902insG | |
| ENST00000699951.1:c.*967_*968insG | ENSP00000514706.1:n.*967_*968insG | |
| ENST00000699952.1:c.803+10432_803+10433insG | ENSP00000514707.1:n.803+10432_803+10433insG | |
| ENST00000265849.12:c.1871_1872insG MANE Select | ENSP00000265849.7:p.Leu625PhefsTer3 | |
| ENST00000642292.1:c.1466_1467insG | ENSP00000495524.1:p.Leu490PhefsTer3 | |
| ENST00000642456.1:c.1466_1467insG | ENSP00000493814.1:p.Leu490PhefsTer3 | |
| ENST00000643595.1:c.*1270_*1271insG | ENSP00000494497.1:n.*1270_*1271insG | |
| ENST00000644110.1:c.1553_1554insG | ENSP00000496392.1:p.Leu519PhefsTer3 | |
| ENST00000265849.11:c.1871_1872insG | ENSP00000265849.7:p.Leu625PhefsTer3 | |
| ENST00000382321.5:c.804-3903_804-3902insG | ENSP00000371758.4:n.804-3903_804-3902insG | |
| ENST00000406569.7:n.1678+193_1678+194insG | ||
| ENST00000441476.6:c.1553_1554insG | ENSP00000392843.2:p.Leu519PhefsTer3 | |
| ENST00000469652.1:n.63-3989_63-3988insG | ||
| NM_000535.5:c.1871_1872insG , LRG_161t1:c.1871_1872insG | NP_000526.1:p.Leu625PhefsTer3 | |
| NR_003085.2:n.1953_1954insG | ||
| XM_006715742.2:c.1865_1866insG | XP_006715805.1:p.Leu623PhefsTer3 | |
| XM_006715744.2:c.938_939insG | XP_006715807.1:p.Leu314PhefsTer3 | |
| XM_011515427.1:c.1916_1917insG | XP_011513729.1:p.Leu640PhefsTer3 | |
| XM_011515428.1:c.1760_1761insG | XP_011513730.1:p.Leu588PhefsTer3 | |
| XM_011515429.1:c.1553_1554insG | XP_011513731.1:p.Leu519PhefsTer3 | |
| XM_011515430.1:c.1553_1554insG | XP_011513732.1:p.Leu519PhefsTer3 | |
| NM_000535.6:c.1871_1872insG | NP_000526.2:p.Leu625PhefsTer3 | |
| NM_001322003.1:c.1466_1467insG | NP_001308932.1:p.Leu490PhefsTer3 | |
| NM_001322004.1:c.1466_1467insG | NP_001308933.1:p.Leu490PhefsTer3 | |
| NM_001322005.1:c.1466_1467insG | NP_001308934.1:p.Leu490PhefsTer3 | |
| NM_001322006.1:c.1715_1716insG | NP_001308935.1:p.Leu573PhefsTer3 | |
| NM_001322007.1:c.1553_1554insG | NP_001308936.1:p.Leu519PhefsTer3 | |
| NM_001322008.1:c.1553_1554insG | NP_001308937.1:p.Leu519PhefsTer3 | |
| NM_001322009.1:c.1466_1467insG | NP_001308938.1:p.Leu490PhefsTer3 | |
| NM_001322010.1:c.1310_1311insG | NP_001308939.1:p.Leu438PhefsTer3 | |
| NM_001322011.1:c.938_939insG | NP_001308940.1:p.Leu314PhefsTer3 | |
| NM_001322012.1:c.938_939insG | NP_001308941.1:p.Leu314PhefsTer3 | |
| NM_001322013.1:c.1298_1299insG | NP_001308942.1:p.Leu434PhefsTer3 | |
| NM_001322014.1:c.1871_1872insG | NP_001308943.1:p.Leu625PhefsTer3 | |
| NM_001322015.1:c.1562_1563insG | NP_001308944.1:p.Leu522PhefsTer3 | |
| NR_136154.1:n.1958_1959insG | ||
| XM_006715744.4:c.938_939insG | XP_006715807.1:p.Leu314PhefsTer3 | |
| XM_017012342.2:c.938_939insG | XP_016867831.1:p.Leu314PhefsTer3 | |
| XM_024446800.1:c.1310_1311insG | XP_024302568.1:p.Leu438PhefsTer3 | |
| NM_000535.7:c.1871_1872insG MANE Select | NP_000526.2:p.Leu625PhefsTer3 | |
| NM_001322003.2:c.1466_1467insG | NP_001308932.1:p.Leu490PhefsTer3 | |
| NM_001322004.2:c.1466_1467insG | NP_001308933.1:p.Leu490PhefsTer3 | |
| NM_001322005.2:c.1466_1467insG | NP_001308934.1:p.Leu490PhefsTer3 | |
| NM_001322006.2:c.1715_1716insG | NP_001308935.1:p.Leu573PhefsTer3 | |
| NM_001322008.2:c.1553_1554insG | NP_001308937.1:p.Leu519PhefsTer3 | |
| NM_001322009.2:c.1466_1467insG | NP_001308938.1:p.Leu490PhefsTer3 | |
| NM_001322010.2:c.1310_1311insG | NP_001308939.1:p.Leu438PhefsTer3 | |
| NM_001322011.2:c.938_939insG | NP_001308940.1:p.Leu314PhefsTer3 | |
| NM_001322012.2:c.938_939insG | NP_001308941.1:p.Leu314PhefsTer3 | |
| NM_001322013.2:c.1298_1299insG | NP_001308942.1:p.Leu434PhefsTer3 | |
| NM_001322014.2:c.1871_1872insG | NP_001308943.1:p.Leu625PhefsTer3 | |
| NM_001322015.2:c.1562_1563insG | NP_001308944.1:p.Leu522PhefsTer3 | |
| NM_001322007.2:c.1553_1554insG | NP_001308936.1:p.Leu519PhefsTer3 |