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_000017.11:g.39724277_39724278insATTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724277_39724278insATTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880530_37880531insATTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880530_37880531insATTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134056_35134057insATTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41138_41139insATTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41138_41139insATTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+267_1479+268insATTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+267_1479+268insATTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+267_2262+268insATTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+267_2262+268insATTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+267_*2097+268insATTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+267_*2097+268insATTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+267_413+268insATTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+267_3441+268insATTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.1:c.2262+267_2262+268insATTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+267_2262+268insATTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+267_2262+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.1:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.3:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.1:n.2631+267_2631+268insATTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+267_2445+268insATTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+267_2445+268insATTTTTTTTTTTTTTTTTTTTT | |
| XM_024450642.1:c.2400+267_2400+268insATTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+267_2400+268insATTTTTTTTTTTTTTTTTTTTT | |
| XM_024450643.1:c.2355+267_2355+268insATTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+267_2355+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001005862.3:c.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.2:c.2262+267_2262+268insATTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+267_2262+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.2:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382782.1:c.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382783.1:c.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+267_2217+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382784.1:c.2424+267_2424+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+267_2424+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382785.1:c.2409+267_2409+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+267_2409+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382786.1:c.2388+267_2388+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+267_2388+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382787.1:c.2382+267_2382+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+267_2382+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382788.1:c.2337+267_2337+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+267_2337+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382789.1:c.2328+267_2328+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+267_2328+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382790.1:c.2304+267_2304+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+267_2304+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382791.1:c.2298+267_2298+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+267_2298+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382792.1:c.2271+267_2271+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+267_2271+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382793.1:c.2265+267_2265+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+267_2265+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382794.1:c.2265+267_2265+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+267_2265+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382795.1:c.2259+267_2259+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+267_2259+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382796.1:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382797.1:c.2209-449_2209-448insATTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-449_2209-448insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382798.1:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382799.1:c.2127+267_2127+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+267_2127+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382800.1:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382801.1:c.2259+267_2259+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+267_2259+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382802.1:c.2049+267_2049+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+267_2049+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382803.1:c.2265+267_2265+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+267_2265+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382804.1:c.1479+267_1479+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+267_1479+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382805.1:c.2208+617_2208+618insATTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+617_2208+618insATTTTTTTTTTTTTTTTTTTTT | |
| NM_001382806.1:c.1269+267_1269+268insATTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+267_1269+268insATTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.4:c.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+267_2307+268insATTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.2:n.2545+267_2545+268insATTTTTTTTTTTTTTTTTTTTT |