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-ATTTTTTTTTTTTTCTTTTTTTT
gnomAD v4:
17-39724272-A-ATTTTTTTTTTTTTCTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724285_39724286insCTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724285_39724286insCTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880538_37880539insCTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880538_37880539insCTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134064_35134065insCTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41146_41147insCTTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41146_41147insCTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+275_1479+276insCTTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+275_1479+276insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+275_2262+276insCTTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+275_2262+276insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+275_*2097+276insCTTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+275_*2097+276insCTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+275_413+276insCTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+275_3441+276insCTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.1:c.2262+275_2262+276insCTTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+275_2262+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+275_2262+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.1:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.3:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.1:n.2631+275_2631+276insCTTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+275_2445+276insCTTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+275_2445+276insCTTTTTTTTTTTTTTTTTTTTT | |
| XM_024450642.1:c.2400+275_2400+276insCTTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+275_2400+276insCTTTTTTTTTTTTTTTTTTTTT | |
| XM_024450643.1:c.2355+275_2355+276insCTTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+275_2355+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001005862.3:c.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.2:c.2262+275_2262+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+275_2262+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.2:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382782.1:c.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382783.1:c.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+275_2217+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382784.1:c.2424+275_2424+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+275_2424+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382785.1:c.2409+275_2409+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+275_2409+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382786.1:c.2388+275_2388+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+275_2388+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382787.1:c.2382+275_2382+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+275_2382+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382788.1:c.2337+275_2337+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+275_2337+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382789.1:c.2328+275_2328+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+275_2328+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382790.1:c.2304+275_2304+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+275_2304+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382791.1:c.2298+275_2298+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+275_2298+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382792.1:c.2271+275_2271+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+275_2271+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382793.1:c.2265+275_2265+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+275_2265+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382794.1:c.2265+275_2265+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+275_2265+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382795.1:c.2259+275_2259+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+275_2259+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382796.1:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382797.1:c.2209-441_2209-440insCTTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-441_2209-440insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382798.1:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382799.1:c.2127+275_2127+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+275_2127+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382800.1:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382801.1:c.2259+275_2259+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+275_2259+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382802.1:c.2049+275_2049+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+275_2049+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382803.1:c.2265+275_2265+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+275_2265+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382804.1:c.1479+275_1479+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+275_1479+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382805.1:c.2208+625_2208+626insCTTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+625_2208+626insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382806.1:c.1269+275_1269+276insCTTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+275_1269+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.4:c.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+275_2307+276insCTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.2:n.2545+275_2545+276insCTTTTTTTTTTTTTTTTTTTTT |