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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724238_39724379delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT , CM000679.2:g.39724238_39724379delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | GRCh38 |
| NC_000017.10:g.37880491_37880632delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT , CM000679.1:g.37880491_37880632delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | GRCh37 |
| NC_000017.9:g.35134017_35134158delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NCBI36 |
| NG_007503.1:g.41099_41240delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT , LRG_724:g.41099_41240delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT MANE Select | ENSP00000269571.4:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGA... | |
| ENST00000269571.9:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ENSP00000269571.4:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGA... | |
| ENST00000406381.6:c.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ENSP00000385185.2:n.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGA... | |
| ENST00000445658.6:c.1479+228_1480-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ENSP00000404047.2:n.1479+228_1480-347delinsGCTCCTGAGTAGCTGGGA... | |
| ENST00000541774.5:c.2262+228_2263-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ENSP00000446466.1:n.2262+228_2263-347delinsGCTCCTGAGTAGCTGGGA... | |
| ENST00000578373.5:c.*2097+228_*2098-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ENSP00000463427.1:n.*2097+228_*2098-347delinsGCTCCTGAGTAGCTGG... | |
| ENST00000580074.1:c.413+228_414-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ||
| ENST00000583038.5:n.3441+228_3442-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ||
| ENST00000584450.5:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ENSP00000463714.1:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGA... | |
| ENST00000584601.5:c.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ENSP00000462438.1:n.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGA... | |
| NM_001005862.2:c.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT , LRG_724t1:c.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001005862.1:n.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001289936.1:c.2262+228_2263-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT , LRG_724t4:c.2262+228_2263-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001276865.1:n.2262+228_2263-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001289937.1:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001276866.1:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_004448.3:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT , LRG_724t2:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_004439.2:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAA... | |
| NR_110535.1:n.2631+228_2632-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | ||
| XM_024450641.1:c.2445+228_2446-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | XP_024306409.1:n.2445+228_2446-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| XM_024450642.1:c.2400+228_2401-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | XP_024306410.1:n.2400+228_2401-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| XM_024450643.1:c.2355+228_2356-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | XP_024306411.1:n.2355+228_2356-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001005862.3:c.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001005862.1:n.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001289936.2:c.2262+228_2263-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001276865.1:n.2262+228_2263-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001289937.2:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001276866.1:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382782.1:c.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369711.1:n.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382783.1:c.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369712.1:n.2217+228_2218-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382784.1:c.2424+228_2425-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369713.1:n.2424+228_2425-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382785.1:c.2409+228_2410-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369714.1:n.2409+228_2410-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382786.1:c.2388+228_2389-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369715.1:n.2388+228_2389-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382787.1:c.2382+228_2383-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369716.1:n.2382+228_2383-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382788.1:c.2337+228_2338-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369717.1:n.2337+228_2338-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382789.1:c.2328+228_2329-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369718.1:n.2328+228_2329-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382790.1:c.2304+228_2305-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369719.1:n.2304+228_2305-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382791.1:c.2298+228_2299-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369720.1:n.2298+228_2299-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382792.1:c.2271+228_2272-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369721.1:n.2271+228_2272-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382793.1:c.2265+228_2266-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369722.1:n.2265+228_2266-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382794.1:c.2265+228_2266-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369723.1:n.2265+228_2266-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382795.1:c.2259+228_2260-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369724.1:n.2259+228_2260-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382796.1:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369725.1:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382797.1:c.2209-488_2209-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369726.1:n.2209-488_2209-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382798.1:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369727.1:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382799.1:c.2127+228_2128-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369728.1:n.2127+228_2128-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382800.1:c.2307+228_2307+369delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369729.1:n.2307+228_2307+369delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382801.1:c.2259+228_2260-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369730.1:n.2259+228_2260-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382802.1:c.2049+228_2050-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369731.1:n.2049+228_2050-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382803.1:c.2265+228_2266-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369732.1:n.2265+228_2266-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382804.1:c.1479+228_1480-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369733.1:n.1479+228_1480-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382805.1:c.2208+578_2208+719delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369734.1:n.2208+578_2208+719delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_001382806.1:c.1269+228_1270-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT | NP_001369735.1:n.1269+228_1270-347delinsGCTCCTGAGTAGCTGGGATTA... | |
| NM_004448.4:c.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT MANE Select | NP_004439.2:n.2307+228_2308-347delinsGCTCCTGAGTAGCTGGGATTACAA... | |
| NR_110535.2:n.2545+228_2546-347delinsGCTCCTGAGTAGCTGGGATTACAAGCGCCCGCTAATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTAGAGTGAAATGGTGCGGTCTCAGCTCAGCCTCCCAGGTTAAAGCGATTCTTCTCCCTCAGT |