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:
rs2059620651
gnomAD v3:
17-39724272-A-ATTTTTTTTTTTTTTTTGTTTTTTT
gnomAD v4:
17-39724272-A-ATTTTTTTTTTTTTTTTGTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724289_39724290insTTTTTTTTTTTTTTTTTTTTTTTG , CM000679.2:g.39724289_39724290insTTTTTTTTTTTTTTTTTTTTTTTG | GRCh38 |
| NC_000017.10:g.37880542_37880543insTTTTTTTTTTTTTTTTTTTTTTTG , CM000679.1:g.37880542_37880543insTTTTTTTTTTTTTTTTTTTTTTTG | GRCh37 |
| NC_000017.9:g.35134068_35134069insTTTTTTTTTTTTTTTTTTTTTTTG | NCBI36 |
| NG_007503.1:g.41150_41151insTTTTTTTTTTTTTTTTTTTTTTTG , LRG_724:g.41150_41151insTTTTTTTTTTTTTTTTTTTTTTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG MANE Select | ENSP00000269571.4:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | ENSP00000269571.4:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG | ENSP00000385185.2:n.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+279_1479+280insTTTTTTTTTTTTTTTTTTTTTTTG | ENSP00000404047.2:n.1479+279_1479+280insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+279_2262+280insTTTTTTTTTTTTTTTTTTTTTTTG | ENSP00000446466.1:n.2262+279_2262+280insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+279_*2097+280insTTTTTTTTTTTTTTTTTTTTTTTG | ENSP00000463427.1:n.*2097+279_*2097+280insTTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+279_413+280insTTTTTTTTTTTTTTTTTTTTTTTG | ||
| ENST00000583038.5:n.3441+279_3441+280insTTTTTTTTTTTTTTTTTTTTTTTG | ||
| ENST00000584450.5:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | ENSP00000463714.1:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG | ENSP00000462438.1:n.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG , LRG_724t1:c.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001005862.1:n.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001289936.1:c.2262+279_2262+280insTTTTTTTTTTTTTTTTTTTTTTTG , LRG_724t4:c.2262+279_2262+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001276865.1:n.2262+279_2262+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001289937.1:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001276866.1:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_004448.3:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG , LRG_724t2:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_004439.2:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | |
| NR_110535.1:n.2631+279_2631+280insTTTTTTTTTTTTTTTTTTTTTTTG | ||
| XM_024450641.1:c.2445+279_2445+280insTTTTTTTTTTTTTTTTTTTTTTTG | XP_024306409.1:n.2445+279_2445+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| XM_024450642.1:c.2400+279_2400+280insTTTTTTTTTTTTTTTTTTTTTTTG | XP_024306410.1:n.2400+279_2400+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| XM_024450643.1:c.2355+279_2355+280insTTTTTTTTTTTTTTTTTTTTTTTG | XP_024306411.1:n.2355+279_2355+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001005862.3:c.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001005862.1:n.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001289936.2:c.2262+279_2262+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001276865.1:n.2262+279_2262+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001289937.2:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001276866.1:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382782.1:c.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369711.1:n.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382783.1:c.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369712.1:n.2217+279_2217+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382784.1:c.2424+279_2424+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369713.1:n.2424+279_2424+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382785.1:c.2409+279_2409+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369714.1:n.2409+279_2409+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382786.1:c.2388+279_2388+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369715.1:n.2388+279_2388+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382787.1:c.2382+279_2382+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369716.1:n.2382+279_2382+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382788.1:c.2337+279_2337+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369717.1:n.2337+279_2337+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382789.1:c.2328+279_2328+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369718.1:n.2328+279_2328+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382790.1:c.2304+279_2304+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369719.1:n.2304+279_2304+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382791.1:c.2298+279_2298+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369720.1:n.2298+279_2298+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382792.1:c.2271+279_2271+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369721.1:n.2271+279_2271+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382793.1:c.2265+279_2265+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369722.1:n.2265+279_2265+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382794.1:c.2265+279_2265+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369723.1:n.2265+279_2265+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382795.1:c.2259+279_2259+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369724.1:n.2259+279_2259+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382796.1:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369725.1:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382797.1:c.2209-437_2209-436insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369726.1:n.2209-437_2209-436insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382798.1:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369727.1:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382799.1:c.2127+279_2127+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369728.1:n.2127+279_2127+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382800.1:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369729.1:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382801.1:c.2259+279_2259+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369730.1:n.2259+279_2259+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382802.1:c.2049+279_2049+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369731.1:n.2049+279_2049+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382803.1:c.2265+279_2265+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369732.1:n.2265+279_2265+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382804.1:c.1479+279_1479+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369733.1:n.1479+279_1479+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382805.1:c.2208+629_2208+630insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369734.1:n.2208+629_2208+630insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_001382806.1:c.1269+279_1269+280insTTTTTTTTTTTTTTTTTTTTTTTG | NP_001369735.1:n.1269+279_1269+280insTTTTTTTTTTTTTTTTTTTTTTTG... | |
| NM_004448.4:c.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG MANE Select | NP_004439.2:n.2307+279_2307+280insTTTTTTTTTTTTTTTTTTTTTTTG | |
| NR_110535.2:n.2545+279_2545+280insTTTTTTTTTTTTTTTTTTTTTTTG |