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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973436_5973438delinsTGGCG , CM000669.2:g.5973436_5973438delinsTGGCG | GRCh38 |
| NC_000007.13:g.6013067_6013069delinsTGGCG , CM000669.1:g.6013067_6013069delinsTGGCG | GRCh37 |
| NC_000007.12:g.5979593_5979595delinsTGGCG | NCBI36 |
| NG_008466.1:g.40669_40671delinsCGCCA , LRG_161:g.40669_40671delinsCGCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1946_*1948delinsCGCCA | ENSP00000514615.2:n.*1946_*1948delinsCGCCA | |
| ENST00000699840.2:c.2547_2549delinsCGCCA | ENSP00000514638.2:p.Met849IlefsTer22 | |
| ENST00000699930.2:c.2442_2444delinsCGCCA | ENSP00000514695.2:p.Met814IlefsTer22 | |
| ENST00000406569.8:c.1910_1912delinsCGCCA | ENSP00000514464.1:n.1910_1912delinsCGCCA | |
| ENST00000644110.2:c.*2144_*2146delinsCGCCA | ENSP00000496392.2:n.*2144_*2146delinsCGCCA | |
| ENST00000699752.1:c.2394_2396delinsCGCCA | ENSP00000514561.1:p.Met798IlefsTer22 | |
| ENST00000699753.1:c.*1971_*1973delinsCGCCA | ENSP00000514562.1:n.*1971_*1973delinsCGCCA | |
| ENST00000699754.1:c.2352_2354delinsCGCCA | ENSP00000514563.1:p.Met784IlefsTer22 | |
| ENST00000699755.1:c.*1949_*1951delinsCGCCA | ENSP00000514564.1:n.*1949_*1951delinsCGCCA | |
| ENST00000699756.1:c.*2137_*2139delinsCGCCA | ENSP00000514565.1:n.*2137_*2139delinsCGCCA | |
| ENST00000699757.1:c.*1807_*1809delinsCGCCA | ENSP00000514566.1:n.*1807_*1809delinsCGCCA | |
| ENST00000699758.1:c.*1807_*1809delinsCGCCA | ENSP00000514567.1:n.*1807_*1809delinsCGCCA | |
| ENST00000699759.1:n.3404_3406delinsCGCCA | ||
| ENST00000699760.1:c.2232_2234delinsCGCCA | ENSP00000514568.1:p.Met744IlefsTer22 | |
| ENST00000699761.1:c.2145_2147delinsCGCCA | ENSP00000514569.1:p.Met715IlefsTer22 | |
| ENST00000699762.1:c.1977_1979delinsCGCCA | ENSP00000514570.1:p.Met659IlefsTer22 | |
| ENST00000699763.1:c.*1640_*1642delinsCGCCA | ENSP00000514571.1:n.*1640_*1642delinsCGCCA | |
| ENST00000699764.1:c.*868_*870delinsCGCCA | ENSP00000514572.1:n.*868_*870delinsCGCCA | |
| ENST00000699765.1:c.*1545_*1547delinsCGCCA | ENSP00000514573.1:n.*1545_*1547delinsCGCCA | |
| ENST00000699766.1:c.2583_2585delinsCGCCA | ENSP00000514574.1:p.Met861IlefsTer22 | |
| ENST00000699767.1:c.*191_*193delinsCGCCA | ENSP00000514575.1:n.*191_*193delinsCGCCA | |
| ENST00000699768.1:c.2406_2408delinsCGCCA | ENSP00000514576.1:p.Met802IlefsTer22 | |
| ENST00000699811.1:c.2145_2147delinsCGCCA | ENSP00000514614.1:p.Met715IlefsTer22 | |
| ENST00000699813.1:n.2663_2665delinsCGCCA | ||
| ENST00000699814.1:c.2173_2175delinsCGCCA | ||
| ENST00000699815.1:c.*2081_*2083delinsCGCCA | ENSP00000514616.1:n.*2081_*2083delinsCGCCA | |
| ENST00000699816.1:c.*1440_*1442delinsCGCCA | ENSP00000514617.1:n.*1440_*1442delinsCGCCA | |
| ENST00000699817.1:c.*2144_*2146delinsCGCCA | ENSP00000514618.1:n.*2144_*2146delinsCGCCA | |
| ENST00000699818.1:c.2145_2147delinsCGCCA | ENSP00000514619.1:p.Met715IlefsTer22 | |
| ENST00000699819.1:c.*1707_*1709delinsCGCCA | ENSP00000514620.1:n.*1707_*1709delinsCGCCA | |
| ENST00000699820.1:c.*488_*490delinsCGCCA | ENSP00000514621.1:n.*488_*490delinsCGCCA | |
| ENST00000699821.1:c.2178_2180delinsCGCCA | ENSP00000514622.1:p.Met726IlefsTer22 | |
| ENST00000699822.1:c.*2002_*2004delinsCGCCA | ENSP00000514623.1:n.*2002_*2004delinsCGCCA | |
| ENST00000699823.1:c.2145_2147delinsCGCCA | ENSP00000514624.1:p.Met715IlefsTer22 | |
| ENST00000699824.1:c.*2053_*2055delinsCGCCA | ENSP00000514625.1:n.*2053_*2055delinsCGCCA | |
| ENST00000699825.1:c.1989_1991delinsCGCCA | ENSP00000514626.1:p.Met663IlefsTer22 | |
| ENST00000699826.1:c.*1949_*1951delinsCGCCA | ENSP00000514627.1:n.*1949_*1951delinsCGCCA | |
| ENST00000699827.1:c.2382_2384delinsCGCCA | ENSP00000514628.1:p.Met794IlefsTer22 | |
| ENST00000699828.1:c.*1640_*1642delinsCGCCA | ENSP00000514629.1:n.*1640_*1642delinsCGCCA | |
| ENST00000699833.1:n.4322_4324delinsCGCCA | ||
| ENST00000699837.1:c.2145_2147delinsCGCCA | ENSP00000514635.1:p.Met715IlefsTer22 | |
| ENST00000699838.1:c.*2450_*2452delinsCGCCA | ENSP00000514636.1:n.*2450_*2452delinsCGCCA | |
| ENST00000699839.1:c.2736_2738delinsCGCCA | ENSP00000514637.1:p.Met912IlefsTer22 | |
| ENST00000699916.1:c.*1807_*1809delinsCGCCA | ENSP00000514684.1:n.*1807_*1809delinsCGCCA | |
| ENST00000699917.1:c.*1999_*2001delinsCGCCA | ENSP00000514685.1:n.*1999_*2001delinsCGCCA | |
| ENST00000699918.1:c.*2051_*2053delinsCGCCA | ENSP00000514686.1:n.*2051_*2053delinsCGCCA | |
| ENST00000699919.1:c.*2137_*2139delinsCGCCA | ENSP00000514687.1:n.*2137_*2139delinsCGCCA | |
| ENST00000699920.1:c.*2186_*2188delinsCGCCA | ENSP00000514688.1:n.*2186_*2188delinsCGCCA | |
| ENST00000699928.1:c.*488_*490delinsCGCCA | ENSP00000514693.1:n.*488_*490delinsCGCCA | |
| ENST00000699951.1:c.*1603_*1605delinsCGCCA | ENSP00000514706.1:n.*1603_*1605delinsCGCCA | |
| ENST00000699952.1:c.*104_*106delinsCGCCA | ENSP00000514707.1:n.*104_*106delinsCGCCA | |
| ENST00000265849.12:c.2550_2552delinsCGCCA MANE Select | ENSP00000265849.7:p.Met850IlefsTer22 | |
| ENST00000642292.1:c.2145_2147delinsCGCCA | ENSP00000495524.1:p.Met715IlefsTer22 | |
| ENST00000642456.1:c.2145_2147delinsCGCCA | ENSP00000493814.1:p.Met715IlefsTer22 | |
| ENST00000643595.1:c.*1949_*1951delinsCGCCA | ENSP00000494497.1:n.*1949_*1951delinsCGCCA | |
| ENST00000644110.1:c.2232_2234delinsCGCCA | ENSP00000496392.1:p.Met744IlefsTer? | |
| ENST00000265849.11:c.2550_2552delinsCGCCA | ENSP00000265849.7:p.Met850IlefsTer22 | |
| ENST00000382321.5:c.1347_1349delinsCGCCA | ENSP00000371758.4:p.Met449IlefsTer? | |
| ENST00000441476.6:c.2232_2234delinsCGCCA | ENSP00000392843.2:p.Met744IlefsTer22 | |
| NM_000535.5:c.2550_2552delinsCGCCA , LRG_161t1:c.2550_2552delinsCGCCA | NP_000526.1:p.Met850IlefsTer22 | |
| NR_003085.2:n.2632_2634delinsCGCCA | ||
| XM_006715742.2:c.2544_2546delinsCGCCA | XP_006715805.1:p.Met848IlefsTer22 | |
| XM_006715744.2:c.1617_1619delinsCGCCA | XP_006715807.1:p.Met539IlefsTer22 | |
| XM_011515427.1:c.2595_2597delinsCGCCA | XP_011513729.1:p.Met865IlefsTer22 | |
| XM_011515428.1:c.2439_2441delinsCGCCA | XP_011513730.1:p.Met813IlefsTer22 | |
| XM_011515429.1:c.2232_2234delinsCGCCA | XP_011513731.1:p.Met744IlefsTer22 | |
| XM_011515430.1:c.2232_2234delinsCGCCA | XP_011513732.1:p.Met744IlefsTer22 | |
| NM_000535.6:c.2550_2552delinsCGCCA | NP_000526.2:p.Met850IlefsTer22 | |
| NM_001322003.1:c.2145_2147delinsCGCCA | NP_001308932.1:p.Met715IlefsTer22 | |
| NM_001322004.1:c.2145_2147delinsCGCCA | NP_001308933.1:p.Met715IlefsTer22 | |
| NM_001322005.1:c.2145_2147delinsCGCCA | NP_001308934.1:p.Met715IlefsTer22 | |
| NM_001322006.1:c.2394_2396delinsCGCCA | NP_001308935.1:p.Met798IlefsTer22 | |
| NM_001322007.1:c.2232_2234delinsCGCCA | NP_001308936.1:p.Met744IlefsTer22 | |
| NM_001322008.1:c.2232_2234delinsCGCCA | NP_001308937.1:p.Met744IlefsTer22 | |
| NM_001322009.1:c.2178_2180delinsCGCCA | NP_001308938.1:p.Met726IlefsTer22 | |
| NM_001322010.1:c.1989_1991delinsCGCCA | NP_001308939.1:p.Met663IlefsTer22 | |
| NM_001322011.1:c.1617_1619delinsCGCCA | NP_001308940.1:p.Met539IlefsTer22 | |
| NM_001322012.1:c.1617_1619delinsCGCCA | NP_001308941.1:p.Met539IlefsTer22 | |
| NM_001322013.1:c.1977_1979delinsCGCCA | NP_001308942.1:p.Met659IlefsTer22 | |
| NM_001322014.1:c.2583_2585delinsCGCCA | NP_001308943.1:p.Met861IlefsTer22 | |
| NM_001322015.1:c.2241_2243delinsCGCCA | NP_001308944.1:p.Met747IlefsTer22 | |
| NR_136154.1:n.2594_2596delinsCGCCA | ||
| XM_006715744.4:c.1617_1619delinsCGCCA | XP_006715807.1:p.Met539IlefsTer22 | |
| XM_017012342.2:c.1617_1619delinsCGCCA | XP_016867831.1:p.Met539IlefsTer22 | |
| XM_024446800.1:c.1989_1991delinsCGCCA | XP_024302568.1:p.Met663IlefsTer22 | |
| NM_000535.7:c.2550_2552delinsCGCCA MANE Select | NP_000526.2:p.Met850IlefsTer22 | |
| NM_001322003.2:c.2145_2147delinsCGCCA | NP_001308932.1:p.Met715IlefsTer22 | |
| NM_001322004.2:c.2145_2147delinsCGCCA | NP_001308933.1:p.Met715IlefsTer22 | |
| NM_001322005.2:c.2145_2147delinsCGCCA | NP_001308934.1:p.Met715IlefsTer22 | |
| NM_001322006.2:c.2394_2396delinsCGCCA | NP_001308935.1:p.Met798IlefsTer22 | |
| NM_001322008.2:c.2232_2234delinsCGCCA | NP_001308937.1:p.Met744IlefsTer22 | |
| NM_001322009.2:c.2178_2180delinsCGCCA | NP_001308938.1:p.Met726IlefsTer22 | |
| NM_001322010.2:c.1989_1991delinsCGCCA | NP_001308939.1:p.Met663IlefsTer22 | |
| NM_001322011.2:c.1617_1619delinsCGCCA | NP_001308940.1:p.Met539IlefsTer22 | |
| NM_001322012.2:c.1617_1619delinsCGCCA | NP_001308941.1:p.Met539IlefsTer22 | |
| NM_001322013.2:c.1977_1979delinsCGCCA | NP_001308942.1:p.Met659IlefsTer22 | |
| NM_001322014.2:c.2583_2585delinsCGCCA | NP_001308943.1:p.Met861IlefsTer22 | |
| NM_001322015.2:c.2241_2243delinsCGCCA | NP_001308944.1:p.Met747IlefsTer22 | |
| NM_001322007.2:c.2232_2234delinsCGCCA | NP_001308936.1:p.Met744IlefsTer22 |