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
dbSNP Id:
rs2059615489
gnomAD v3:
17-39724272-A-ATTGTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
17-39724272-A-ATTGTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724274_39724275insGTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724274_39724275insGTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880527_37880528insGTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880527_37880528insGTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134053_35134054insGTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41135_41136insGTTTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41135_41136insGTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+264_1479+265insGTTTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+264_1479+265insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+264_2262+265insGTTTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+264_2262+265insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+264_*2097+265insGTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+264_*2097+265insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+264_413+265insGTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+264_3441+265insGTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.1:c.2262+264_2262+265insGTTTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+264_2262+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+264_2262+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.1:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.3:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.1:n.2631+264_2631+265insGTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+264_2445+265insGTTTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+264_2445+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| XM_024450642.1:c.2400+264_2400+265insGTTTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+264_2400+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| XM_024450643.1:c.2355+264_2355+265insGTTTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+264_2355+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001005862.3:c.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.2:c.2262+264_2262+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+264_2262+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.2:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382782.1:c.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382783.1:c.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+264_2217+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382784.1:c.2424+264_2424+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+264_2424+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382785.1:c.2409+264_2409+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+264_2409+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382786.1:c.2388+264_2388+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+264_2388+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382787.1:c.2382+264_2382+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+264_2382+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382788.1:c.2337+264_2337+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+264_2337+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382789.1:c.2328+264_2328+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+264_2328+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382790.1:c.2304+264_2304+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+264_2304+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382791.1:c.2298+264_2298+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+264_2298+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382792.1:c.2271+264_2271+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+264_2271+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382793.1:c.2265+264_2265+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+264_2265+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382794.1:c.2265+264_2265+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+264_2265+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382795.1:c.2259+264_2259+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+264_2259+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382796.1:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382797.1:c.2209-452_2209-451insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-452_2209-451insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382798.1:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382799.1:c.2127+264_2127+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+264_2127+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382800.1:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382801.1:c.2259+264_2259+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+264_2259+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382802.1:c.2049+264_2049+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+264_2049+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382803.1:c.2265+264_2265+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+264_2265+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382804.1:c.1479+264_1479+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+264_1479+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382805.1:c.2208+614_2208+615insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+614_2208+615insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001382806.1:c.1269+264_1269+265insGTTTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+264_1269+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.4:c.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+264_2307+265insGTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.2:n.2545+264_2545+265insGTTTTTTTTTTTTTTTTTTTTTT |