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:
rs2059618103
gnomAD v3:
17-39724272-A-ATTTTTTTTTTTTTTGTTTTTT
gnomAD v4:
17-39724272-A-ATTTTTTTTTTTTTTGTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724286_39724287insGTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724286_39724287insGTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000017.10:g.37880539_37880540insGTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880539_37880540insGTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000017.9:g.35134065_35134066insGTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007503.1:g.41147_41148insGTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41147_41148insGTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000269571.4:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000269571.9:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | ENSP00000269571.4:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000406381.6:c.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | ENSP00000385185.2:n.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000445658.6:c.1479+276_1479+277insGTTTTTTTTTTTTTTTTTTTT | ENSP00000404047.2:n.1479+276_1479+277insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000541774.5:c.2262+276_2262+277insGTTTTTTTTTTTTTTTTTTTT | ENSP00000446466.1:n.2262+276_2262+277insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000578373.5:c.*2097+276_*2097+277insGTTTTTTTTTTTTTTTTTTTT | ENSP00000463427.1:n.*2097+276_*2097+277insGTTTTTTTTTTTTTTTTTT... | |
| ENST00000580074.1:c.413+276_413+277insGTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000583038.5:n.3441+276_3441+277insGTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000584450.5:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | ENSP00000463714.1:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000584601.5:c.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | ENSP00000462438.1:n.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001005862.2:c.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.1:c.2262+276_2262+277insGTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+276_2262+277insGTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+276_2262+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.1:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.3:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | NP_004439.2:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.1:n.2631+276_2631+277insGTTTTTTTTTTTTTTTTTTTT | ||
| XM_024450641.1:c.2445+276_2445+277insGTTTTTTTTTTTTTTTTTTTT | XP_024306409.1:n.2445+276_2445+277insGTTTTTTTTTTTTTTTTTTTT | |
| XM_024450642.1:c.2400+276_2400+277insGTTTTTTTTTTTTTTTTTTTT | XP_024306410.1:n.2400+276_2400+277insGTTTTTTTTTTTTTTTTTTTT | |
| XM_024450643.1:c.2355+276_2355+277insGTTTTTTTTTTTTTTTTTTTT | XP_024306411.1:n.2355+276_2355+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001005862.3:c.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | NP_001005862.1:n.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001289936.2:c.2262+276_2262+277insGTTTTTTTTTTTTTTTTTTTT | NP_001276865.1:n.2262+276_2262+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001289937.2:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | NP_001276866.1:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382782.1:c.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369711.1:n.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382783.1:c.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369712.1:n.2217+276_2217+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382784.1:c.2424+276_2424+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369713.1:n.2424+276_2424+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382785.1:c.2409+276_2409+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369714.1:n.2409+276_2409+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382786.1:c.2388+276_2388+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369715.1:n.2388+276_2388+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382787.1:c.2382+276_2382+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369716.1:n.2382+276_2382+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382788.1:c.2337+276_2337+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369717.1:n.2337+276_2337+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382789.1:c.2328+276_2328+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369718.1:n.2328+276_2328+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382790.1:c.2304+276_2304+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369719.1:n.2304+276_2304+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382791.1:c.2298+276_2298+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369720.1:n.2298+276_2298+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382792.1:c.2271+276_2271+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369721.1:n.2271+276_2271+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382793.1:c.2265+276_2265+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369722.1:n.2265+276_2265+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382794.1:c.2265+276_2265+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369723.1:n.2265+276_2265+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382795.1:c.2259+276_2259+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369724.1:n.2259+276_2259+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382796.1:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369725.1:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382797.1:c.2209-440_2209-439insGTTTTTTTTTTTTTTTTTTTT | NP_001369726.1:n.2209-440_2209-439insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382798.1:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369727.1:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382799.1:c.2127+276_2127+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369728.1:n.2127+276_2127+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382800.1:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369729.1:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382801.1:c.2259+276_2259+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369730.1:n.2259+276_2259+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382802.1:c.2049+276_2049+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369731.1:n.2049+276_2049+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382803.1:c.2265+276_2265+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369732.1:n.2265+276_2265+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382804.1:c.1479+276_1479+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369733.1:n.1479+276_1479+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382805.1:c.2208+626_2208+627insGTTTTTTTTTTTTTTTTTTTT | NP_001369734.1:n.2208+626_2208+627insGTTTTTTTTTTTTTTTTTTTT | |
| NM_001382806.1:c.1269+276_1269+277insGTTTTTTTTTTTTTTTTTTTT | NP_001369735.1:n.1269+276_1269+277insGTTTTTTTTTTTTTTTTTTTT | |
| NM_004448.4:c.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004439.2:n.2307+276_2307+277insGTTTTTTTTTTTTTTTTTTTT | |
| NR_110535.2:n.2545+276_2545+277insGTTTTTTTTTTTTTTTTTTTT |