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_000005.10:g.1275742_1275894delinsTCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTAC , CM000667.2:g.1275742_1275894delinsTCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTAC | GRCh38 |
| NC_000005.9:g.1275857_1276009delinsTCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTAC , CM000667.1:g.1275857_1276009delinsTCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTAC | GRCh37 |
| NC_000005.8:g.1328857_1329009delinsTCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTAC | NCBI36 |
| NG_009265.1:g.24154_24306delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA , LRG_343:g.24154_24306delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA MANE Select | ENSP00000309572.5:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGT... | |
| ENST00000656021.1:c.*1832+2747_*1832+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ENSP00000499759.1:n.*1832+2747_*1832+2899delinsGTAGGTGGGGATCT... | |
| ENST00000310581.9:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ENSP00000309572.5:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGT... | |
| ENST00000334602.10:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ENSP00000334346.6:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGT... | |
| ENST00000460137.6:c.2250+2747_2250+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ENSP00000425003.1:n.2250+2747_2250+2899delinsGTAGGTGGGGATCTGT... | |
| ENST00000484238.6:n.1099+2747_1099+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ||
| ENST00000508104.2:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ENSP00000426042.2:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGT... | |
| NM_001193376.1:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | NP_001180305.1:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGG... | |
| NM_198253.2:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA , LRG_343t1:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | NP_937983.2:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATT... | |
| XM_011514104.1:c.756+2747_756+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | XP_011512406.1:n.756+2747_756+2899delinsGTAGGTGGGGATCTGTGGGAT... | |
| XM_011514105.1:c.642+2747_642+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | XP_011512407.1:n.642+2747_642+2899delinsGTAGGTGGGGATCTGTGGGAT... | |
| XM_011514106.1:c.642+2747_642+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | XP_011512408.1:n.642+2747_642+2899delinsGTAGGTGGGGATCTGTGGGAT... | |
| NR_149162.1:n.2344+2747_2344+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ||
| NR_149163.1:n.2308+2747_2308+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ||
| NM_001193376.2:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | NP_001180305.1:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGG... | |
| NM_198253.3:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA MANE Select | NP_937983.2:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATT... | |
| NR_149162.2:n.2365+2747_2365+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ||
| NR_149163.2:n.2329+2747_2329+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ||
| NM_001193376.3:c.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | NP_001180305.1:n.2286+2747_2286+2899delinsGTAGGTGGGGATCTGTGGG... | |
| NR_149162.3:n.2365+2747_2365+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA | ||
| NR_149163.3:n.2329+2747_2329+2899delinsGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTGGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGA |