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.1275783_1275935delinsCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT , CM000667.2:g.1275783_1275935delinsCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT | GRCh38 |
| NC_000005.9:g.1275898_1276050delinsCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT , CM000667.1:g.1275898_1276050delinsCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT | GRCh37 |
| NC_000005.8:g.1328898_1329050delinsCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT | NCBI36 |
| NG_009265.1:g.24113_24265delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG , LRG_343:g.24113_24265delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG MANE Select | ENSP00000309572.5:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATC... | |
| ENST00000656021.1:c.*1832+2706_*1832+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ENSP00000499759.1:n.*1832+2706_*1832+2858delinsAGGGTAGGTGGAGA... | |
| ENST00000310581.9:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ENSP00000309572.5:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATC... | |
| ENST00000334602.10:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ENSP00000334346.6:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATC... | |
| ENST00000460137.6:c.2250+2706_2250+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ENSP00000425003.1:n.2250+2706_2250+2858delinsAGGGTAGGTGGAGATC... | |
| ENST00000484238.6:n.1099+2706_1099+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ||
| ENST00000508104.2:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ENSP00000426042.2:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATC... | |
| NM_001193376.1:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | NP_001180305.1:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGT... | |
| NM_198253.2:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG , LRG_343t1:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | NP_937983.2:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGG... | |
| XM_011514104.1:c.756+2706_756+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | XP_011512406.1:n.756+2706_756+2858delinsAGGGTAGGTGGAGATCTGTGG... | |
| XM_011514105.1:c.642+2706_642+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | XP_011512407.1:n.642+2706_642+2858delinsAGGGTAGGTGGAGATCTGTGG... | |
| XM_011514106.1:c.642+2706_642+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | XP_011512408.1:n.642+2706_642+2858delinsAGGGTAGGTGGAGATCTGTGG... | |
| NR_149162.1:n.2344+2706_2344+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ||
| NR_149163.1:n.2308+2706_2308+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ||
| NM_001193376.2:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | NP_001180305.1:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGT... | |
| NM_198253.3:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG MANE Select | NP_937983.2:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGG... | |
| NR_149162.2:n.2365+2706_2365+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ||
| NR_149163.2:n.2329+2706_2329+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ||
| NM_001193376.3:c.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | NP_001180305.1:n.2286+2706_2286+2858delinsAGGGTAGGTGGAGATCTGT... | |
| NR_149162.3:n.2365+2706_2365+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG | ||
| NR_149163.3:n.2329+2706_2329+2858delinsAGGGTAGGTGGAGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGGATTGGTTTTCATGTGTGGGGTAGGTGGGGATCTGTGGAGTTGGTTTTCATGTGTG |