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_000010.11:g.89014080T= , CM000672.2:g.89014080T= | GRCh38 |
| NC_000010.10:g.90773837T= , CM000672.1:g.90773837T= | GRCh37 |
| NC_000010.9:g.90763817T= | NCBI36 |
| NG_009089.2:g.28550T= , LRG_134:g.28550T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.986-39T= | ||
| ENST00000355740.8:c.594-39T= | ENSP00000347979.3:n.594-39T= | |
| ENST00000357339.7:c.614-39T= | ENSP00000349896.2:n.614-39T= | |
| ENST00000371857.8:n.2222-39T= | ||
| ENST00000460510.6:c.-41-39T= | ENSP00000512812.1:n.-41-39T= | |
| ENST00000466081.6:n.2326-39T= | ||
| ENST00000477270.6:c.722-39T= | ENSP00000512813.1:n.722-39T= | |
| ENST00000479522.6:c.*106-39T= | ENSP00000424113.1:n.*106-39T= | |
| ENST00000484444.6:c.*118-39T= | ENSP00000420975.1:n.*118-39T= | |
| ENST00000488877.6:c.568-39T= | ENSP00000425159.1:n.568-39T= | |
| ENST00000492756.7:c.*106-39T= | ENSP00000422453.1:n.*106-39T= | |
| ENST00000494799.6:c.-41-39T= | ENSP00000512834.1:n.-41-39T= | |
| ENST00000562983.3:c.-41-39T= | ENSP00000512845.1:n.-41-39T= | |
| ENST00000612663.6:c.*79-39T= | ENSP00000477997.3:n.*79-39T= | |
| ENST00000640140.2:n.822-39T= | ||
| ENST00000640250.2:n.176-39T= | ||
| ENST00000640681.2:n.781-39T= | ||
| ENST00000696723.1:n.4310-39T= | ||
| ENST00000696741.1:n.2315-39T= | ||
| ENST00000696742.1:n.2042-39T= | ||
| ENST00000696743.1:n.3445-39T= | ||
| ENST00000696744.1:n.716-39T= | ||
| ENST00000696767.1:n.1011-39T= | ||
| ENST00000696768.1:c.531-39T= | ENSP00000512859.1:n.531-39T= | |
| ENST00000696769.1:n.2366-39T= | ||
| ENST00000696771.1:c.-41-39T= | ENSP00000512860.1:n.-41-39T= | |
| ENST00000696772.1:n.2280-39T= | ||
| ENST00000696773.1:n.2019-39T= | ||
| ENST00000696774.1:n.5748T= | ||
| ENST00000696776.1:c.770-39T= | ENSP00000512861.1:n.770-39T= | |
| ENST00000696777.1:n.2085-39T= | ||
| ENST00000696778.1:n.1113-39T= | ||
| ENST00000696779.1:c.284-39T= | ENSP00000512862.1:n.284-39T= | |
| ENST00000696780.1:c.707-39T= | ENSP00000512863.1:n.707-39T= | |
| ENST00000696781.1:c.422-39T= | ENSP00000512864.1:n.422-39T= | |
| ENST00000696782.1:c.*79-39T= | ENSP00000512865.1:n.*79-39T= | |
| ENST00000696783.1:n.2545-39T= | ||
| ENST00000696992.1:n.1794-39T= | ||
| ENST00000696995.1:n.4167T= | ||
| ENST00000696996.1:n.2119-39T= | ||
| ENST00000696997.1:c.*307-39T= | ENSP00000513028.1:n.*307-39T= | |
| ENST00000696998.1:n.1931-39T= | ||
| ENST00000696999.1:c.-41-39T= | ENSP00000513029.1:n.-41-39T= | |
| ENST00000697035.1:c.*10-39T= | ENSP00000513059.1:n.*10-39T= | |
| ENST00000697036.1:c.*93-39T= | ENSP00000513060.1:n.*93-39T= | |
| ENST00000697037.1:n.712-39T= | ||
| ENST00000697093.1:n.2874T= | ||
| ENST00000697094.1:n.3260-39T= | ||
| ENST00000697095.1:c.*1878-39T= | ENSP00000513104.1:n.*1878-39T= | |
| ENST00000697096.1:n.1810-39T= | ||
| ENST00000697097.1:c.-41-39T= | ENSP00000513105.1:n.-41-39T= | |
| ENST00000562983.2:n.863-39T= | ||
| ENST00000690268.1:c.758-39T= | ENSP00000509810.1:n.758-39T= | |
| ENST00000355740.7:c.*3-39T= | ENSP00000347979.3:n.*3-39T= | |
| ENST00000612663.5:c.*79-39T= | ENSP00000477997.3:n.*79-39T= | |
| ENST00000640140.1:n.849-39T= | ||
| ENST00000640250.1:n.176-39T= | ||
| ENST00000640681.1:n.798-39T= | ||
| ENST00000652046.1:c.677-39T= MANE Select | ENSP00000498466.1:n.677-39T= | |
| ENST00000313771.9:n.986-39T= | ||
| ENST00000352159.8:c.677-20T= | ENSP00000345601.4:n.677-20T= | |
| ENST00000355279.2:c.652-39T= | ENSP00000347426.2:n.652-39T= | |
| ENST00000355740.6:c.677-39T= | ENSP00000347979.2:n.677-39T= | |
| ENST00000357339.6:c.614-39T= | ENSP00000349896.2:n.614-39T= | |
| ENST00000479522.5:c.*106-39T= | ENSP00000424113.1:n.*106-39T= | |
| ENST00000484444.5:c.*118-39T= | ENSP00000420975.1:n.*118-39T= | |
| ENST00000488877.5:c.*118-39T= | ENSP00000425159.1:n.*118-39T= | |
| ENST00000492756.5:c.505-39T= | ENSP00000422453.1:n.505-39T= | |
| ENST00000494410.5:c.*35-39T= | ENSP00000423755.1:n.*35-39T= | |
| ENST00000494799.5:n.584-39T= | ||
| ENST00000612663.4:c.*24-39T= | ENSP00000477997.2:n.*24-39T= | |
| ENST00000615406.4:c.677-39T= | ENSP00000484575.1:n.677-39T= | |
| ENST00000626542.2:c.677-39T= | ENSP00000485876.1:n.677-39T= | |
| NM_000043.4:c.677-39T= , LRG_134t1:c.677-39T= | NP_000034.1:n.677-39T= | |
| NM_152871.2:c.614-39T= | NP_690610.1:n.614-39T= | |
| NM_152872.2:c.652-39T= | NP_690611.1:n.652-39T= | |
| NR_028033.2:n.851-39T= | ||
| NR_028034.2:n.713-39T= | ||
| NR_028035.2:n.776-39T= | ||
| NR_028036.2:n.914-39T= | ||
| XM_006717819.2:c.758-39T= | XP_006717882.1:n.758-39T= | |
| XM_011539764.1:c.839-39T= | XP_011538066.1:n.839-39T= | |
| XM_011539765.1:c.776-39T= | XP_011538067.1:n.776-39T= | |
| XM_011539766.1:c.758-39T= | XP_011538068.1:n.758-39T= | |
| XM_011539767.1:c.722-39T= | XP_011538069.1:n.722-39T= | |
| XR_945732.1:n.745-39T= | ||
| XR_945733.1:n.682-39T= | ||
| NM_000043.5:c.677-39T= | NP_000034.1:n.677-39T= | |
| NM_001320619.1:c.594-39T= | NP_001307548.1:n.594-39T= | |
| NM_152871.3:c.614-39T= | NP_690610.1:n.614-39T= | |
| NM_152872.3:c.652-39T= | NP_690611.1:n.652-39T= | |
| NR_028033.3:n.823-39T= | ||
| NR_028034.3:n.685-39T= | ||
| NR_028035.3:n.748-39T= | ||
| NR_028036.3:n.886-39T= | ||
| NR_135313.1:n.803-39T= | ||
| NR_135314.1:n.986-39T= | ||
| NR_135315.1:n.739-39T= | ||
| XM_006717819.3:c.758-39T= | XP_006717882.1:n.758-39T= | |
| XM_011539764.2:c.839-39T= | XP_011538066.1:n.839-39T= | |
| XM_011539765.2:c.776-39T= | XP_011538067.1:n.776-39T= | |
| XM_011539766.2:c.758-39T= | XP_011538068.1:n.758-39T= | |
| XM_011539767.3:c.722-39T= | XP_011538069.1:n.722-39T= | |
| XR_945732.3:n.745-39T= | ||
| XR_945733.2:n.682-39T= | ||
| NM_000043.6:c.677-39T= MANE Select | NP_000034.1:n.677-39T= | |
| NM_001320619.2:c.594-39T= | NP_001307548.1:n.594-39T= | |
| NM_152871.4:c.614-39T= | NP_690610.1:n.614-39T= | |
| NM_152872.4:c.652-39T= | NP_690611.1:n.652-39T= | |
| NR_028033.4:n.584-39T= | ||
| NR_028034.4:n.446-39T= | ||
| NR_028035.4:n.509-39T= | ||
| NR_028036.4:n.647-39T= | ||
| NR_135313.2:n.564-39T= | ||
| NR_135314.2:n.843-39T= | ||
| NR_135315.2:n.596-39T= |