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_000011.10:g.18285393_18285394insTAGTAAAATTGGTTCGTTAAGGGTCTTGATCGTCTATTCCTGCCGTATTATCTTCAGGGTCTGGTTCGTCATTTCCTGGGTCTAACTGCCCATTTATCCCACTCCTTGCGTGGAAACCACCCTCCAAAA , CM000673.2:g.18285393_18285394insTAGTAAAATTGGTTCGTTAAGGGTCTTGATCGTCTATTCCTGCCGTATTATCTTCAGGGTCTGGTTCGTCATTTCCTGGGTCTAACTGCCCATTTATCCCACTCCTTGCGTGGAAACCACCCTCCAAAA | GRCh38 |
| NC_000011.9:g.18306940_18306941insTAGTAAAATTGGTTCGTTAAGGGTCTTGATCGTCTATTCCTGCCGTATTATCTTCAGGGTCTGGTTCGTCATTTCCTGGGTCTAACTGCCCATTTATCCCACTCCTTGCGTGGAAACCACCCTCCAAAA , CM000673.1:g.18306940_18306941insTAGTAAAATTGGTTCGTTAAGGGTCTTGATCGTCTATTCCTGCCGTATTATCTTCAGGGTCTGGTTCGTCATTTCCTGGGTCTAACTGCCCATTTATCCCACTCCTTGCGTGGAAACCACCCTCCAAAA | GRCh37 |
| NC_000011.8:g.18263516_18263517insTAGTAAAATTGGTTCGTTAAGGGTCTTGATCGTCTATTCCTGCCGTATTATCTTCAGGGTCTGGTTCGTCATTTCCTGGGTCTAACTGCCCATTTATCCCACTCCTTGCGTGGAAACCACCCTCCAAAA | NCBI36 |
| NG_008877.1:g.41781_41782insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA , LRG_586:g.41781_41782insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349215.8:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA MANE Select | ENSP00000265967.5:p.Ala969PhefsTer20 | |
| ENST00000349215.7:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ENSP00000265967.5:p.Ala969PhefsTer20 | |
| ENST00000352460.7:n.1228+1197_1228+1198insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| ENST00000396253.7:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ENSP00000379552.3:p.Ala855PhefsTer20 | |
| ENST00000438420.6:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ENSP00000399590.2:p.Ala855PhefsTer20 | |
| ENST00000537258.1:c.224_225insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ENSP00000437437.1:p.Ala76PhefsTer20 | |
| ENST00000544218.5:c.461_462insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ENSP00000441781.1:p.Ala155PhefsTer20 | |
| ENST00000545561.1:n.964_965insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| NM_007216.3:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | NP_009147.3:p.Ala855PhefsTer20 | |
| NM_181507.1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA , LRG_586t1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | NP_852608.1:p.Ala969PhefsTer20 | |
| NM_181508.1:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | NP_852609.1:p.Ala855PhefsTer20 | |
| XM_011519862.1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518164.1:p.Ala969PhefsTer20 | |
| XM_011519863.1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518165.1:p.Ala969PhefsTer20 | |
| XM_011519864.1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518166.1:p.Ala969PhefsTer20 | |
| XM_011519865.1:c.2792_2793insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518167.1:p.Ala932PhefsTer20 | |
| XM_011519866.1:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518168.1:p.Ala855PhefsTer20 | |
| XM_011519867.1:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518169.1:p.Ala855PhefsTer20 | |
| XM_011519868.1:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518170.1:p.Ala855PhefsTer20 | |
| XM_011519869.1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518171.1:p.Ala969PhefsTer20 | |
| XM_011519868.3:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_011518170.1:p.Ala855PhefsTer20 | |
| XM_017017149.1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_016872638.1:p.Ala969PhefsTer20 | |
| XM_017017150.1:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_016872639.1:p.Ala969PhefsTer20 | |
| XM_017017151.2:c.2792_2793insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_016872640.1:p.Ala932PhefsTer20 | |
| XM_017017152.1:c.2792_2793insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_016872641.1:p.Ala932PhefsTer20 | |
| XM_017017153.2:c.2792_2793insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_016872642.1:p.Ala932PhefsTer20 | |
| XM_017017154.1:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | XP_016872643.1:p.Ala855PhefsTer20 | |
| XR_001747750.1:n.3172_3173insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| XR_001747751.1:n.3172_3173insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| XR_001747752.1:n.2928_2929insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| XR_001747753.1:n.3045_3046insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| XR_001747754.2:n.2569_2570insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| XR_001747755.2:n.2491_2492insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| XR_001747756.2:n.2504_2505insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | ||
| NM_007216.4:c.2561_2562insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA | NP_009147.3:p.Ala855PhefsTer20 | |
| NM_181507.2:c.2903_2904insTTTTGGAGGGTGGTTTCCACGCAAGGAGTGGGATAAATGGGCAGTTAGACCCAGGAAATGACGAACCAGACCCTGAAGATAATACGGCAGGAATAGACGATCAAGACCCTTAACGAACCAATTTTACTA MANE Select | NP_852608.1:p.Ala969PhefsTer20 |