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.43076620_43076621insTCCTATATAGGTTTTTTGAACCTATAAC , CM000679.2:g.43076620_43076621insTCCTATATAGGTTTTTTGAACCTATAAC | GRCh38 |
| NC_000017.10:g.41228637_41228638insTCCTATATAGGTTTTTTGAACCTATAAC , CM000679.1:g.41228637_41228638insTCCTATATAGGTTTTTTGAACCTATAAC | GRCh37 |
| NC_000017.9:g.38482163_38482164insTCCTATATAGGTTTTTTGAACCTATAAC | NCBI36 |
| NG_005905.2:g.141363_141364insGTTATAGGTTCAAAAAACCTATATAGGA , LRG_292:g.141363_141364insGTTATAGGTTCAAAAAACCTATATAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4358-10_4358-9insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000417241.2:n.4358-10_4358-9insGTTATAGGTTCAAAAAACCTATAT... | |
| ENST00000470026.6:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000419274.2:n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000473961.6:c.4232-7_4232-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000420201.2:n.4232-7_4232-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000476777.6:c.4352-7_4352-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000417554.2:n.4352-7_4352-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000477152.6:c.4280-7_4280-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000419988.2:n.4280-7_4280-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000478531.6:c.1046-7_1046-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000420412.2:n.1046-7_1046-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000489037.2:c.4280-7_4280-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000420781.2:n.4280-7_4280-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000493919.6:c.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418819.2:n.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGG... | |
| ENST00000494123.6:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000419103.2:n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000497488.2:c.3470-7_3470-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418986.2:n.3470-7_3470-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000618469.2:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000478114.2:n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000634433.2:c.4235-7_4235-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000489431.2:n.4235-7_4235-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000644379.2:c.4424-7_4424-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000496570.2:n.4424-7_4424-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000644555.2:c.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000494614.2:n.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGG... | |
| ENST00000652672.2:c.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000498906.2:n.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000484087.6:c.923-10_923-9insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000419481.2:n.923-10_923-9insGTTATAGGTTCAAAAAACCTATATAG... | |
| ENST00000700182.1:c.968-10_968-9insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000514849.1:n.968-10_968-9insGTTATAGGTTCAAAAAACCTATATAG... | |
| ENST00000357654.9:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA MANE Select | ENSP00000350283.3:n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000471181.7:c.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418960.2:n.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATAT... | |
| ENST00000644379.1:c.745-7_745-6insGTTATAGGTTCAAAAAACCTATATAGGA | ||
| ENST00000352993.7:c.932-7_932-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000312236.5:n.932-7_932-6insGTTATAGGTTCAAAAAACCTATATAGG... | |
| ENST00000357654.7:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000350283.3:n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000461221.5:c.*4141-7_*4141-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418548.1:n.*4141-7_*4141-6insGTTATAGGTTCAAAAAACCTATA... | |
| ENST00000461574.1:c.652-10_652-9insGTTATAGGTTCAAAAAACCTATATAGGA | ||
| ENST00000468300.5:c.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000417148.1:n.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATAT... | |
| ENST00000471181.6:c.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418960.2:n.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATAT... | |
| ENST00000478531.5:c.1046-7_1046-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000420412.1:n.1046-7_1046-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000484087.5:c.671-7_671-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000419481.1:n.671-7_671-6insGTTATAGGTTCAAAAAACCTATATAGG... | |
| ENST00000487825.5:c.674-7_674-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418212.1:n.674-7_674-6insGTTATAGGTTCAAAAAACCTATATAGG... | |
| ENST00000491747.6:c.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000420705.2:n.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATAT... | |
| ENST00000493795.5:c.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418775.1:n.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATA... | |
| ENST00000493919.5:c.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000418819.1:n.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGG... | |
| ENST00000586385.5:c.5-12670_5-12669insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000465818.1:n.5-12670_5-12669insGTTATAGGTTCAAAAAACCTATA... | |
| ENST00000591534.5:c.-43-2100_-43-2099insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000467329.1:n.-43-2100_-43-2099insGTTATAGGTTCAAAAAACCTA... | |
| ENST00000591849.5:c.-98-26431_-98-26430insGTTATAGGTTCAAAAAACCTATATAGGA | ENSP00000465347.1:n.-98-26431_-98-26430insGTTATAGGTTCAAAAAACC... | |
| ENST00000621897.1:n.252-10_252-9insGTTATAGGTTCAAAAAACCTATATAGGA | ||
| NM_007294.3:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA , LRG_292t1:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009225.1:n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NM_007297.3:c.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009228.2:n.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NM_007298.3:c.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009229.2:n.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NM_007299.3:c.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009230.2:n.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NM_007300.3:c.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009231.2:n.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NR_027676.1:n.4494-7_4494-6insGTTATAGGTTCAAAAAACCTATATAGGA | ||
| NM_007294.4:c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA MANE Select | NP_009225.1:n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NM_007297.4:c.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009228.2:n.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NM_007299.4:c.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009230.2:n.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NM_007300.4:c.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA | NP_009231.2:n.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA | |
| NR_027676.2:n.4535-7_4535-6insGTTATAGGTTCAAAAAACCTATATAGGA |