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_000002.12:g.1495724_1495795delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG , CM000664.2:g.1495724_1495795delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | GRCh38 |
| NC_000002.11:g.1499496_1499567delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG , CM000664.1:g.1499496_1499567delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | GRCh37 |
| NC_000002.10:g.1478503_1478574delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NCBI36 |
| NG_011581.1:g.87262_87333delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG MANE Select | ENSP00000329869.4:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGC... | |
| ENST00000329066.8:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ENSP00000329869.4:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGC... | |
| ENST00000345913.8:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ENSP00000318820.7:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGC... | |
| ENST00000346956.7:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ENSP00000263886.6:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGC... | |
| ENST00000382198.5:c.1488-265_1488-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ENSP00000371633.1:n.1488-265_1488-194delinsAGGGGTCTGGGCAGACGC... | |
| ENST00000382201.7:c.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ENSP00000371636.3:n.1836-265_1836-194delinsAGGGGTCTGGGCAGACGC... | |
| ENST00000422464.5:c.1794-265_1794-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ENSP00000405788.1:n.1794-265_1794-194delinsAGGGGTCTGGGCAGACGC... | |
| ENST00000446278.5:c.431-265_431-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ||
| ENST00000462973.5:n.424+1685_424+1756delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ||
| ENST00000469607.3:c.429-265_429-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ENSP00000419461.1:n.429-265_429-194delinsAGGGGTCTGGGCAGACGCCA... | |
| ENST00000497517.6:n.677+1685_677+1756delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ||
| NM_000547.5:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_000538.3:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGG... | |
| NM_001206744.1:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_001193673.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| NM_001206745.1:c.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_001193674.1:n.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| NM_175719.3:c.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_783650.1:n.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGG... | |
| NM_175721.3:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_783652.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGG... | |
| NM_175722.3:c.1488-265_1488-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_783653.1:n.1488-265_1488-194delinsAGGGGTCTGGGCAGACGCCACAGG... | |
| XM_011510379.1:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_011508681.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_011510380.1:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_011508682.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_011510381.1:c.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_011508683.1:n.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XR_922681.1:n.2008-265_2008-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | ||
| XM_011510380.3:c.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_011508682.2:n.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453085.1:c.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308853.1:n.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453086.1:c.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308854.1:n.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453087.1:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308855.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453088.1:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308856.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453089.1:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308857.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453090.1:c.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308858.1:n.2043-265_2043-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453091.1:c.1872-265_1872-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308859.1:n.1872-265_1872-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453092.1:c.1872-265_1872-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308860.1:n.1872-265_1872-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| XM_024453093.1:c.1524-265_1524-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | XP_024308861.1:n.1524-265_1524-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| NM_001206744.2:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG MANE Select | NP_001193673.1:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| NM_000547.6:c.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_000538.3:n.2007-265_2007-194delinsAGGGGTCTGGGCAGACGCCACAGG... | |
| NM_001206745.2:c.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_001193674.1:n.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCAC... | |
| NM_175719.4:c.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGGGTCTCCTTCAGGTCCTCAGTGCCTGCACCTGAGTGGTCCCGGGTGCTG | NP_783650.1:n.1836-265_1836-194delinsAGGGGTCTGGGCAGACGCCACAGG... |