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.15260930_15260949delinsGCAGCAGCCGCCTGCAGGAC , CM000679.2:g.15260930_15260949delinsGCAGCAGCCGCCTGCAGGAC | GRCh38 |
| NC_000017.10:g.15164247_15164266delinsGCAGCAGCCGCCTGCAGGAC , CM000679.1:g.15164247_15164266delinsGCAGCAGCCGCCTGCAGGAC | GRCh37 |
| NC_000017.9:g.15104972_15104991delinsGCAGCAGCCGCCTGCAGGAC | NCBI36 |
| NG_007949.1:g.9379_9398delinsGTCCTGCAGGCGGCTGCTGC , LRG_263:g.9379_9398delinsGTCCTGCAGGCGGCTGCTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312280.9:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC MANE Select | ENSP00000308937.3:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000395936.7:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000379268.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000395938.7:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000379269.3:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000426385.4:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000409824.3:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000471150.3:n.156-188_156-169delinsGTCCTGCAGGCGGCTGCTGC | ||
| ENST00000494511.7:c.-27+4205_-27+4224delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000462782.2:n.-27+4205_-27+4224delinsGTCCTGCAGGCGGCTGCT... | |
| ENST00000580584.3:c.-126-1756_-126-1737delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000464468.3:n.-126-1756_-126-1737delinsGTCCTGCAGGCGGCTG... | |
| ENST00000612492.5:c.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000484631.1:n.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000643451.2:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000494628.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000646419.2:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000494871.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000674651.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000501727.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000674673.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000501804.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000674707.1:c.-27+1480_-27+1499delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000502250.1:n.-27+1480_-27+1499delinsGTCCTGCAGGCGGCTGCT... | |
| ENST00000674868.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000502835.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000675350.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000501557.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000675808.1:c.-222_-203delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000502310.1:n.-222_-203delinsGTCCTGCAGGCGGCTGCTGC | |
| ENST00000675819.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000502018.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000675854.1:c.-127+1480_-127+1499delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000502324.1:n.-127+1480_-127+1499delinsGTCCTGCAGGCGGCTG... | |
| ENST00000675950.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000501546.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000676161.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000501766.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000676221.1:c.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000502601.1:n.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000312280.7:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000308937.3:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000395936.5:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000379268.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000395938.6:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000379269.2:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000426385.3:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000409824.3:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000471150.2:n.156-188_156-169delinsGTCCTGCAGGCGGCTGCTGC | ||
| ENST00000494511.5:c.-2+4205_-2+4224delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000462782.1:n.-2+4205_-2+4224delinsGTCCTGCAGGCGGCTGCTGC... | |
| ENST00000580584.1:c.-101-1756_-101-1737delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000464468.1:n.-101-1756_-101-1737delinsGTCCTGCAGGCGGCTG... | |
| ENST00000612492.4:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | ENSP00000484631.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC... | |
| NM_000304.3:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | NP_000295.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_001281455.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | NP_001268384.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_001281456.1:c.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC | NP_001268385.1:n.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_153321.2:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | NP_696996.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NR_104017.1:n.205-1756_205-1737delinsGTCCTGCAGGCGGCTGCTGC | ||
| NR_104018.1:n.204+4205_204+4224delinsGTCCTGCAGGCGGCTGCTGC | ||
| XM_011523943.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | XP_011522245.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_001330143.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | NP_001317072.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| XM_024450806.1:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | XP_024306574.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_000304.4:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC MANE Select | NP_000295.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_001281456.2:c.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC | NP_001268385.1:n.-30-192_-30-173delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_001330143.2:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | NP_001317072.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NM_153321.3:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | NP_696996.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | |
| NR_104017.2:n.174-1756_174-1737delinsGTCCTGCAGGCGGCTGCTGC | ||
| NR_104018.2:n.173+4205_173+4224delinsGTCCTGCAGGCGGCTGCTGC | ||
| NM_001281455.2:c.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC | NP_001268384.1:n.-34-188_-34-169delinsGTCCTGCAGGCGGCTGCTGC |