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-ATTTTTTTTTTGTTTTTTTTTTTTTTTT
gnomAD v4:
17-39724272-A-ATTTTTTTTTTGTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724282_39724283insGTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724282_39724283insGTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880535_37880536insGTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880535_37880536insGTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134061_35134062insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41143_41144insGTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41143_41144insGTTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+272_1479+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+272_1479+273insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+272_2262+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+272_2262+273insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+272_*2097+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+272_*2097+273insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+272_413+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+272_3441+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.1:c.2262+272_2262+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+272_2262+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+272_2262+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.1:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.3:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NR_110535.1:n.2631+272_2631+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+272_2445+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+272_2445+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450642.1:c.2400+272_2400+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+272_2400+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024450643.1:c.2355+272_2355+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+272_2355+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.3:c.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289936.2:c.2262+272_2262+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+272_2262+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001289937.2:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382782.1:c.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382783.1:c.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+272_2217+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382784.1:c.2424+272_2424+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+272_2424+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382785.1:c.2409+272_2409+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+272_2409+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382786.1:c.2388+272_2388+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+272_2388+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382787.1:c.2382+272_2382+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+272_2382+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382788.1:c.2337+272_2337+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+272_2337+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382789.1:c.2328+272_2328+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+272_2328+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382790.1:c.2304+272_2304+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+272_2304+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382791.1:c.2298+272_2298+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+272_2298+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382792.1:c.2271+272_2271+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+272_2271+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382793.1:c.2265+272_2265+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+272_2265+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382794.1:c.2265+272_2265+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+272_2265+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382795.1:c.2259+272_2259+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+272_2259+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382796.1:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382797.1:c.2209-444_2209-443insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-444_2209-443insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382798.1:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382799.1:c.2127+272_2127+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+272_2127+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382800.1:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382801.1:c.2259+272_2259+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+272_2259+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382802.1:c.2049+272_2049+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+272_2049+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382803.1:c.2265+272_2265+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+272_2265+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382804.1:c.1479+272_1479+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+272_1479+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382805.1:c.2208+622_2208+623insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+622_2208+623insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001382806.1:c.1269+272_1269+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+272_1269+273insGTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_004448.4:c.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+272_2307+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NR_110535.2:n.2545+272_2545+273insGTTTTTTTTTTTTTTTTTTTTTTTTTT |