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-ATTTCTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
17-39724272-A-ATTTCTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724275_39724276insCTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724275_39724276insCTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880528_37880529insCTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880528_37880529insCTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134054_35134055insCTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41136_41137insCTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41136_41137insCTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+265_1479+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+265_1479+266insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+265_2262+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+265_2262+266insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+265_*2097+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+265_*2097+266insCTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+265_413+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+265_3441+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.1:c.2262+265_2262+266insCTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+265_2262+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+265_2262+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.1:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.3:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.1:n.2631+265_2631+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+265_2445+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+265_2445+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450642.1:c.2400+265_2400+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+265_2400+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450643.1:c.2355+265_2355+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+265_2355+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.3:c.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.2:c.2262+265_2262+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+265_2262+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.2:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382782.1:c.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382783.1:c.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+265_2217+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382784.1:c.2424+265_2424+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+265_2424+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382785.1:c.2409+265_2409+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+265_2409+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382786.1:c.2388+265_2388+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+265_2388+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382787.1:c.2382+265_2382+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+265_2382+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382788.1:c.2337+265_2337+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+265_2337+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382789.1:c.2328+265_2328+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+265_2328+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382790.1:c.2304+265_2304+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+265_2304+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382791.1:c.2298+265_2298+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+265_2298+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382792.1:c.2271+265_2271+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+265_2271+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382793.1:c.2265+265_2265+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+265_2265+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382794.1:c.2265+265_2265+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+265_2265+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382795.1:c.2259+265_2259+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+265_2259+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382796.1:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382797.1:c.2209-451_2209-450insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-451_2209-450insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382798.1:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382799.1:c.2127+265_2127+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+265_2127+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382800.1:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382801.1:c.2259+265_2259+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+265_2259+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382802.1:c.2049+265_2049+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+265_2049+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382803.1:c.2265+265_2265+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+265_2265+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382804.1:c.1479+265_1479+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+265_1479+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382805.1:c.2208+615_2208+616insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+615_2208+616insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382806.1:c.1269+265_1269+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+265_1269+266insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.4:c.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+265_2307+266insCTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.2:n.2545+265_2545+266insCTTTTTTTTTTTTTTTTTTTTTTTTT |