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:
rs2128747177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5989821_5989824del , CM000669.2:g.5989821_5989824del | GRCh38 |
| NC_000007.13:g.6029452_6029455del , CM000669.1:g.6029452_6029455del | GRCh37 |
| NC_000007.12:g.5995978_5995981del | NCBI36 |
| NG_008466.1:g.24283_24286del , LRG_161:g.24283_24286del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*516_*519del | ENSP00000514615.2:n.*516_*519del | |
| ENST00000699840.2:c.1117_1120del | ENSP00000514638.2:p.Gln373SerfsTer10 | |
| ENST00000699930.2:c.1012_1015del | ENSP00000514695.2:p.Gln338SerfsTer10 | |
| ENST00000406569.8:c.1120_1123del | ENSP00000514464.1:p.Gln374SerfsTer10 | |
| ENST00000644110.2:c.*714_*717del | ENSP00000496392.2:n.*714_*717del | |
| ENST00000699752.1:c.988+2149_988+2152del | ENSP00000514561.1:n.988+2149_988+2152del | |
| ENST00000699753.1:c.*541_*544del | ENSP00000514562.1:n.*541_*544del | |
| ENST00000699754.1:c.922_925del | ENSP00000514563.1:p.Gln308SerfsTer10 | |
| ENST00000699755.1:c.*519_*522del | ENSP00000514564.1:n.*519_*522del | |
| ENST00000699756.1:c.*707_*710del | ENSP00000514565.1:n.*707_*710del | |
| ENST00000699757.1:c.*377_*380del | ENSP00000514566.1:n.*377_*380del | |
| ENST00000699758.1:c.*377_*380del | ENSP00000514567.1:n.*377_*380del | |
| ENST00000699759.1:n.1974_1977del | ||
| ENST00000699760.1:c.802_805del | ENSP00000514568.1:p.Gln268SerfsTer10 | |
| ENST00000699761.1:c.715_718del | ENSP00000514569.1:p.Gln239SerfsTer10 | |
| ENST00000699762.1:c.547_550del | ENSP00000514570.1:p.Gln183SerfsTer10 | |
| ENST00000699763.1:c.*210_*213del | ENSP00000514571.1:n.*210_*213del | |
| ENST00000699764.1:c.1120_1123del | ENSP00000514572.1:p.Gln374SerfsTer10 | |
| ENST00000699765.1:c.*216_*219del | ENSP00000514573.1:n.*216_*219del | |
| ENST00000699766.1:c.1120_1123del | ENSP00000514574.1:p.Gln374SerfsTer10 | |
| ENST00000699767.1:c.1120_1123del | ENSP00000514575.1:p.Gln374SerfsTer10 | |
| ENST00000699768.1:c.1120_1123del | ENSP00000514576.1:p.Gln374SerfsTer10 | |
| ENST00000699811.1:c.715_718del | ENSP00000514614.1:p.Gln239SerfsTer10 | |
| ENST00000699813.1:n.1233_1236del | ||
| ENST00000699814.1:c.743_746del | ||
| ENST00000699815.1:c.*612_*615del | ENSP00000514616.1:n.*612_*615del | |
| ENST00000699816.1:c.715_718del | ENSP00000514617.1:p.Gln239SerfsTer11 | |
| ENST00000699817.1:c.*714_*717del | ENSP00000514618.1:n.*714_*717del | |
| ENST00000699818.1:c.715_718del | ENSP00000514619.1:p.Gln239SerfsTer10 | |
| ENST00000699819.1:c.*277_*280del | ENSP00000514620.1:n.*277_*280del | |
| ENST00000699820.1:c.1120_1123del | ENSP00000514621.1:p.Gln374SerfsTer8 | |
| ENST00000699821.1:c.715_718del | ENSP00000514622.1:p.Gln239SerfsTer10 | |
| ENST00000699822.1:c.*572_*575del | ENSP00000514623.1:n.*572_*575del | |
| ENST00000699823.1:c.715_718del | ENSP00000514624.1:p.Gln239SerfsTer10 | |
| ENST00000699824.1:c.*623_*626del | ENSP00000514625.1:n.*623_*626del | |
| ENST00000699825.1:c.583+2149_583+2152del | ENSP00000514626.1:n.583+2149_583+2152del | |
| ENST00000699826.1:c.*519_*522del | ENSP00000514627.1:n.*519_*522del | |
| ENST00000699827.1:c.952_955del | ENSP00000514628.1:p.Gln318SerfsTer10 | |
| ENST00000699828.1:c.*210_*213del | ENSP00000514629.1:n.*210_*213del | |
| ENST00000699829.1:c.*621_*624del | ENSP00000514630.1:n.*621_*624del | |
| ENST00000699830.1:c.*519_*522del | ENSP00000514631.1:n.*519_*522del | |
| ENST00000699833.1:n.2892_2895del | ||
| ENST00000699837.1:c.715_718del | ENSP00000514635.1:p.Gln239SerfsTer10 | |
| ENST00000699838.1:c.*1020_*1023del | ENSP00000514636.1:n.*1020_*1023del | |
| ENST00000699839.1:c.1306_1309del | ENSP00000514637.1:p.Gln436SerfsTer10 | |
| ENST00000699840.1:c.1117_1120del | ENSP00000514638.1:p.Gln373SerfsTer10 | |
| ENST00000699916.1:c.*377_*380del | ENSP00000514684.1:n.*377_*380del | |
| ENST00000699917.1:c.*569_*572del | ENSP00000514685.1:n.*569_*572del | |
| ENST00000699918.1:c.*621_*624del | ENSP00000514686.1:n.*621_*624del | |
| ENST00000699919.1:c.*707_*710del | ENSP00000514687.1:n.*707_*710del | |
| ENST00000699920.1:c.*756_*759del | ENSP00000514688.1:n.*756_*759del | |
| ENST00000699928.1:c.988+2149_988+2152del | ENSP00000514693.1:n.988+2149_988+2152del | |
| ENST00000699929.1:c.*421_*424del | ENSP00000514694.1:n.*421_*424del | |
| ENST00000699930.1:c.1012_1015del | ENSP00000514695.1:p.Gln338SerfsTer10 | |
| ENST00000699931.1:n.2548_2551del | ||
| ENST00000699932.1:c.*338_*341del | ENSP00000514696.1:n.*338_*341del | |
| ENST00000699933.1:n.1100_1103del | ||
| ENST00000699951.1:c.*216_*219del | ENSP00000514706.1:n.*216_*219del | |
| ENST00000699952.1:c.803+7502_803+7505del | ENSP00000514707.1:n.803+7502_803+7505del | |
| ENST00000699953.1:c.*227_*230del | ENSP00000514708.1:n.*227_*230del | |
| ENST00000699954.1:c.*421_*424del | ENSP00000514709.1:n.*421_*424del | |
| ENST00000265849.12:c.1120_1123del MANE Select | ENSP00000265849.7:p.Gln374SerfsTer10 | |
| ENST00000642292.1:c.715_718del | ENSP00000495524.1:p.Gln239SerfsTer10 | |
| ENST00000642456.1:c.715_718del | ENSP00000493814.1:p.Gln239SerfsTer10 | |
| ENST00000643595.1:c.*519_*522del | ENSP00000494497.1:n.*519_*522del | |
| ENST00000644110.1:c.802_805del | ENSP00000496392.1:p.Gln268SerfsTer10 | |
| ENST00000265849.11:c.1120_1123del | ENSP00000265849.7:p.Gln374SerfsTer10 | |
| ENST00000382321.5:c.804-6833_804-6830del | ENSP00000371758.4:n.804-6833_804-6830del | |
| ENST00000406569.7:n.1120_1123del | ||
| ENST00000441476.6:c.802_805del | ENSP00000392843.2:p.Gln268SerfsTer10 | |
| ENST00000469652.1:n.63-6919_63-6916del | ||
| NM_000535.5:c.1120_1123del , LRG_161t1:c.1120_1123del | NP_000526.1:p.Gln374SerfsTer10 | |
| NR_003085.2:n.1202_1205del | ||
| XM_006715742.2:c.1114_1117del | XP_006715805.1:p.Gln372SerfsTer10 | |
| XM_006715744.2:c.187_190del | XP_006715807.1:p.Gln63SerfsTer10 | |
| XM_011515427.1:c.1165_1168del | XP_011513729.1:p.Gln389SerfsTer10 | |
| XM_011515428.1:c.1033+2149_1033+2152del | XP_011513730.1:n.1033+2149_1033+2152del | |
| XM_011515429.1:c.802_805del | XP_011513731.1:p.Gln268SerfsTer10 | |
| XM_011515430.1:c.802_805del | XP_011513732.1:p.Gln268SerfsTer10 | |
| NM_000535.6:c.1120_1123del | NP_000526.2:p.Gln374SerfsTer10 | |
| NM_001322003.1:c.715_718del | NP_001308932.1:p.Gln239SerfsTer10 | |
| NM_001322004.1:c.715_718del | NP_001308933.1:p.Gln239SerfsTer10 | |
| NM_001322005.1:c.715_718del | NP_001308934.1:p.Gln239SerfsTer10 | |
| NM_001322006.1:c.988+2149_988+2152del | NP_001308935.1:n.988+2149_988+2152del | |
| NM_001322007.1:c.802_805del | NP_001308936.1:p.Gln268SerfsTer10 | |
| NM_001322008.1:c.802_805del | NP_001308937.1:p.Gln268SerfsTer10 | |
| NM_001322009.1:c.715_718del | NP_001308938.1:p.Gln239SerfsTer10 | |
| NM_001322010.1:c.583+2149_583+2152del | NP_001308939.1:n.583+2149_583+2152del | |
| NM_001322011.1:c.187_190del | NP_001308940.1:p.Gln63SerfsTer10 | |
| NM_001322012.1:c.187_190del | NP_001308941.1:p.Gln63SerfsTer10 | |
| NM_001322013.1:c.547_550del | NP_001308942.1:p.Gln183SerfsTer10 | |
| NM_001322014.1:c.1120_1123del | NP_001308943.1:p.Gln374SerfsTer10 | |
| NM_001322015.1:c.811_814del | NP_001308944.1:p.Gln271SerfsTer10 | |
| NR_136154.1:n.1207_1210del | ||
| XM_006715744.4:c.187_190del | XP_006715807.1:p.Gln63SerfsTer10 | |
| XM_017012342.2:c.187_190del | XP_016867831.1:p.Gln63SerfsTer10 | |
| XM_024446800.1:c.583+2149_583+2152del | XP_024302568.1:n.583+2149_583+2152del | |
| NM_000535.7:c.1120_1123del MANE Select | NP_000526.2:p.Gln374SerfsTer10 | |
| NM_001322003.2:c.715_718del | NP_001308932.1:p.Gln239SerfsTer10 | |
| NM_001322004.2:c.715_718del | NP_001308933.1:p.Gln239SerfsTer10 | |
| NM_001322005.2:c.715_718del | NP_001308934.1:p.Gln239SerfsTer10 | |
| NM_001322006.2:c.988+2149_988+2152del | NP_001308935.1:n.988+2149_988+2152del | |
| NM_001322008.2:c.802_805del | NP_001308937.1:p.Gln268SerfsTer10 | |
| NM_001322009.2:c.715_718del | NP_001308938.1:p.Gln239SerfsTer10 | |
| NM_001322010.2:c.583+2149_583+2152del | NP_001308939.1:n.583+2149_583+2152del | |
| NM_001322011.2:c.187_190del | NP_001308940.1:p.Gln63SerfsTer10 | |
| NM_001322012.2:c.187_190del | NP_001308941.1:p.Gln63SerfsTer10 | |
| NM_001322013.2:c.547_550del | NP_001308942.1:p.Gln183SerfsTer10 | |
| NM_001322014.2:c.1120_1123del | NP_001308943.1:p.Gln374SerfsTer10 | |
| NM_001322015.2:c.811_814del | NP_001308944.1:p.Gln271SerfsTer10 | |
| NM_001322007.2:c.802_805del | NP_001308936.1:p.Gln268SerfsTer10 |