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-ATTTTTTTTTCTTTTTTTTTTTTTTT
gnomAD v4:
17-39724272-A-ATTTTTTTTTCTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724281_39724282insCTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724281_39724282insCTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880534_37880535insCTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880534_37880535insCTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134060_35134061insCTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41142_41143insCTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41142_41143insCTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+271_1479+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+271_1479+272insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+271_2262+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+271_2262+272insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+271_*2097+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+271_*2097+272insCTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+271_413+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+271_3441+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.1:c.2262+271_2262+272insCTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+271_2262+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+271_2262+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.1:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.3:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.1:n.2631+271_2631+272insCTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+271_2445+272insCTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+271_2445+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450642.1:c.2400+271_2400+272insCTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+271_2400+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450643.1:c.2355+271_2355+272insCTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+271_2355+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.3:c.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.2:c.2262+271_2262+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+271_2262+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.2:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382782.1:c.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382783.1:c.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+271_2217+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382784.1:c.2424+271_2424+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+271_2424+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382785.1:c.2409+271_2409+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+271_2409+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382786.1:c.2388+271_2388+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+271_2388+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382787.1:c.2382+271_2382+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+271_2382+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382788.1:c.2337+271_2337+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+271_2337+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382789.1:c.2328+271_2328+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+271_2328+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382790.1:c.2304+271_2304+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+271_2304+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382791.1:c.2298+271_2298+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+271_2298+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382792.1:c.2271+271_2271+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+271_2271+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382793.1:c.2265+271_2265+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+271_2265+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382794.1:c.2265+271_2265+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+271_2265+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382795.1:c.2259+271_2259+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+271_2259+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382796.1:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382797.1:c.2209-445_2209-444insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-445_2209-444insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382798.1:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382799.1:c.2127+271_2127+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+271_2127+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382800.1:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382801.1:c.2259+271_2259+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+271_2259+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382802.1:c.2049+271_2049+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+271_2049+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382803.1:c.2265+271_2265+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+271_2265+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382804.1:c.1479+271_1479+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+271_1479+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382805.1:c.2208+621_2208+622insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+621_2208+622insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382806.1:c.1269+271_1269+272insCTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+271_1269+272insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.4:c.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+271_2307+272insCTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.2:n.2545+271_2545+272insCTTTTTTTTTTTTTTTTTTTTTTTT |