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
gnomAD v3:
17-39724272-A-ATTTTTTTGTTTTTTTTTTTTTTTTT
gnomAD v4:
17-39724272-A-ATTTTTTTGTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724279_39724280insGTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724279_39724280insGTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880532_37880533insGTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880532_37880533insGTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134058_35134059insGTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41140_41141insGTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41140_41141insGTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+269_1479+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+269_1479+270insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+269_2262+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+269_2262+270insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+269_*2097+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+269_*2097+270insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+269_413+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+269_3441+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.1:c.2262+269_2262+270insGTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+269_2262+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+269_2262+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.1:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.3:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.1:n.2631+269_2631+270insGTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+269_2445+270insGTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+269_2445+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450642.1:c.2400+269_2400+270insGTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+269_2400+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450643.1:c.2355+269_2355+270insGTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+269_2355+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.3:c.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.2:c.2262+269_2262+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+269_2262+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.2:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382782.1:c.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382783.1:c.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+269_2217+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382784.1:c.2424+269_2424+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+269_2424+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382785.1:c.2409+269_2409+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+269_2409+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382786.1:c.2388+269_2388+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+269_2388+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382787.1:c.2382+269_2382+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+269_2382+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382788.1:c.2337+269_2337+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+269_2337+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382789.1:c.2328+269_2328+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+269_2328+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382790.1:c.2304+269_2304+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+269_2304+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382791.1:c.2298+269_2298+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+269_2298+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382792.1:c.2271+269_2271+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+269_2271+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382793.1:c.2265+269_2265+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+269_2265+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382794.1:c.2265+269_2265+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+269_2265+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382795.1:c.2259+269_2259+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+269_2259+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382796.1:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382797.1:c.2209-447_2209-446insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-447_2209-446insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382798.1:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382799.1:c.2127+269_2127+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+269_2127+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382800.1:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382801.1:c.2259+269_2259+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+269_2259+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382802.1:c.2049+269_2049+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+269_2049+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382803.1:c.2265+269_2265+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+269_2265+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382804.1:c.1479+269_1479+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+269_1479+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382805.1:c.2208+619_2208+620insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+619_2208+620insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382806.1:c.1269+269_1269+270insGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+269_1269+270insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.4:c.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+269_2307+270insGTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.2:n.2545+269_2545+270insGTTTTTTTTTTTTTTTTTTTTTTTT |