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_000023.11:g.154363046_154363047insAACCTCGCCATCATCGGCCAAGCTCTGGGCCCCGACGGTTCCGTAAACGTCACCATTACCGAAGACGAAGCCGATGCCTGGCTGAGCGGCATTAACGACCTGCGACTTTACCTCTCCGCCATCGACGCGGA , CM000685.2:g.154363046_154363047insAACCTCGCCATCATCGGCCAAGCTCTGGGCCCCGACGGTTCCGTAAACGTCACCATTACCGAAGACGAAGCCGATGCCTGGCTGAGCGGCATTAACGACCTGCGACTTTACCTCTCCGCCATCGACGCGGA | GRCh38 |
| NC_000023.10:g.153591414_153591415insAACCTCGCCATCATCGGCCAAGCTCTGGGCCCCGACGGTTCCGTAAACGTCACCATTACCGAAGACGAAGCCGATGCCTGGCTGAGCGGCATTAACGACCTGCGACTTTACCTCTCCGCCATCGACGCGGA , CM000685.1:g.153591414_153591415insAACCTCGCCATCATCGGCCAAGCTCTGGGCCCCGACGGTTCCGTAAACGTCACCATTACCGAAGACGAAGCCGATGCCTGGCTGAGCGGCATTAACGACCTGCGACTTTACCTCTCCGCCATCGACGCGGA | GRCh37 |
| NC_000023.9:g.153244608_153244609insAACCTCGCCATCATCGGCCAAGCTCTGGGCCCCGACGGTTCCGTAAACGTCACCATTACCGAAGACGAAGCCGATGCCTGGCTGAGCGGCATTAACGACCTGCGACTTTACCTCTCCGCCATCGACGCGGA | NCBI36 |
| NG_011506.1:g.16592_16593insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | |
| NG_011506.2:g.16592_16593insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000353467.4:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000369850.10:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT MANE Select | ENSP00000358866.3:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000369856.8:c.2200-263_2200-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000358872.4:n.2200-263_2200-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000422373.6:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000416926.2:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000610817.5:c.2338-263_2338-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000480593.2:n.2338-263_2338-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000673639.2:c.279+2389_279+2390insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ||
| ENST00000676696.1:c.2560-263_2560-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000503392.1:n.2560-263_2560-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000344736.8:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000358863.3:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000360319.8:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000353467.4:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000369850.7:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000358866.3:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000369856.7:c.2200-263_2200-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000358872.4:n.2200-263_2200-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000420627.5:c.2237-263_2237-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000408921.1:n.2237-263_2237-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000422373.5:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000416926.1:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGG... | |
| ENST00000610817.4:c.2200-263_2200-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | ENSP00000480593.1:n.2200-263_2200-262insTCCGCGTCGATGGCGGAGAGG... | |
| NM_001110556.1:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | NP_001104026.1:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAA... | |
| NM_001456.3:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | NP_001447.2:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGT... | |
| XM_011531127.1:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | XP_011529429.1:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAA... | |
| XM_011531128.1:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | XP_011529430.1:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAA... | |
| XM_011531129.1:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | XP_011529431.1:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAA... | |
| XM_011531130.1:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | XP_011529432.1:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAA... | |
| XM_011531131.1:c.2080-263_2080-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | XP_011529433.1:n.2080-263_2080-262insTCCGCGTCGATGGCGGAGAGGTAA... | |
| NM_001110556.2:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT MANE Select | NP_001104026.1:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAA... | |
| NM_001456.4:c.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGTCGCAGGTCGTTAATGCCGCTCAGCCAGGCATCGGCTTCGTCTTCGGTAATGGTGACGTTTACGGAACCGTCGGGGCCCAGAGCTTGGCCGATGATGGCGAGGTT | NP_001447.2:n.2281-263_2281-262insTCCGCGTCGATGGCGGAGAGGTAAAGT... |