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_000001.11:g.92607519_92607553delinsCAAACAAAAAAAAGGCATTATTATATTGACAAAAA , CM000663.2:g.92607519_92607553delinsCAAACAAAAAAAAGGCATTATTATATTGACAAAAA | GRCh38 |
| NC_000001.10:g.93073076_93073110delinsCAAACAAAAAAAAGGCATTATTATATTGACAAAAA , CM000663.1:g.93073076_93073110delinsCAAACAAAAAAAAGGCATTATTATATTGACAAAAA | GRCh37 |
| NC_000001.9:g.92845664_92845698delinsCAAACAAAAAAAAGGCATTATTATATTGACAAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540033.3:c.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000440826.2:n.1959+28_1959+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000706843.1:c.1950+28_1950+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000516584.1:n.1950+28_1950+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000706845.1:c.*1807+28_*1807+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000516587.1:n.*1807+28_*1807+62delinsTTTTTGTCAATATAATAA... | |
| ENST00000706846.1:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000516588.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000706867.1:c.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000516594.1:n.2055+28_2055+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000706868.1:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000516595.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000706869.1:n.310-3754_310-3720delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ||
| ENST00000706883.1:c.762+28_762+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000516600.1:n.762+28_762+62delinsTTTTTGTCAATATAATAATGCC... | |
| ENST00000706885.1:c.1839+28_1839+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000516601.1:n.1839+28_1839+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000684568.2:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG MANE Select | ENSP00000506999.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000370331.5:c.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000359356.1:n.1926+28_1926+62delinsTTTTTGTCAATATAATAATG... | |
| ENST00000491940.5:n.779+28_779+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ||
| ENST00000492513.5:n.475_509delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ||
| ENST00000540033.2:c.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | ENSP00000440826.2:n.1959+28_1959+62delinsTTTTTGTCAATATAATAATG... | |
| NM_001308248.1:c.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001295177.1:n.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_005665.4:c.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_005656.4:n.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTT... | |
| NM_005665.5:c.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_005656.4:n.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTT... | |
| XM_011542099.1:c.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540401.1:n.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542100.1:c.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540402.1:n.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542101.1:c.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540403.1:n.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542102.1:c.2031+28_2031+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540404.1:n.2031+28_2031+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542103.1:c.2032-2151_2032-2117delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540405.1:n.2032-2151_2032-2117delinsTTTTTGTCAATATAATAAT... | |
| XM_011542104.1:c.2019+28_2019+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540406.1:n.2019+28_2019+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542105.1:c.1998+28_1998+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540407.1:n.1998+28_1998+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542107.1:c.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540409.1:n.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542108.1:c.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540410.1:n.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_011542109.1:c.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_011540411.1:n.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001350197.1:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001337126.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001350198.1:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001337127.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002269.1:c.2187+28_2187+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857758.1:n.2187+28_2187+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002270.2:c.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857759.1:n.2178+28_2178+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002271.2:c.2106+28_2106+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857760.1:n.2106+28_2106+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002272.1:c.2187+28_2187+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857761.1:n.2187+28_2187+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002273.2:c.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857762.1:n.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002274.1:c.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857763.1:n.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002275.1:c.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857764.1:n.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002276.2:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857765.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002277.1:c.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857766.1:n.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002278.1:c.2040+28_2040+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857767.1:n.2040+28_2040+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002279.1:c.1920+28_1920+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857768.1:n.1920+28_1920+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002281.2:c.1950+28_1950+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857770.1:n.1950+28_1950+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002282.1:c.2187+28_2187+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857771.1:n.2187+28_2187+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002283.1:c.2106+28_2106+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857772.1:n.2106+28_2106+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002284.2:c.1827+28_1827+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857773.1:n.1827+28_1827+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002286.2:c.1563+28_1563+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857775.1:n.1563+28_1563+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002287.2:c.1563+28_1563+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857776.1:n.1563+28_1563+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_017002288.1:c.1563+28_1563+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_016857777.1:n.1563+28_1563+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_024449686.1:c.2106+28_2106+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_024305454.1:n.2106+28_2106+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_024449689.1:c.2007+28_2007+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_024305457.1:n.2007+28_2007+62delinsTTTTTGTCAATATAATAATGCCT... | |
| XM_024449690.1:c.1839+28_1839+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | XP_024305458.1:n.1839+28_1839+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001308248.2:c.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001295177.1:n.1959+28_1959+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001350197.2:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG MANE Select | NP_001337126.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001350198.2:c.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001337127.1:n.1974+28_1974+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001377210.1:c.1950+28_1950+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001364139.1:n.1950+28_1950+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001377211.1:c.1932+28_1932+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001364140.1:n.1932+28_1932+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001377212.1:c.1827+28_1827+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001364141.1:n.1827+28_1827+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_001377213.1:c.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_001364142.1:n.2055+28_2055+62delinsTTTTTGTCAATATAATAATGCCT... | |
| NM_005665.6:c.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTTTTTTGTTTG | NP_005656.4:n.1926+28_1926+62delinsTTTTTGTCAATATAATAATGCCTTTT... |