SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600128_12600129insTATGGTTAATATGTTTATCTTTAAAA , CM000665.2:g.12600128_12600129insTATGGTTAATATGTTTATCTTTAAAA | GRCh38 |
| NC_000003.11:g.12641627_12641628insTATGGTTAATATGTTTATCTTTAAAA , CM000665.1:g.12641627_12641628insTATGGTTAATATGTTTATCTTTAAAA | GRCh37 |
| NC_000003.10:g.12616627_12616628insTATGGTTAATATGTTTATCTTTAAAA | NCBI36 |
| NG_007467.1:g.69051_69052insTTTTAAAGATAAACATATTAACCATA , LRG_413:g.69051_69052insTTTTAAAGATAAACATATTAACCATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*655+23_*655+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000401088.1:n.*655+23_*655+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000432427.3:c.310+23_310+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000465826.6:n.581+23_581+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000491290.2:n.1367+23_1367+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000684903.1:c.*667+23_*667+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000508612.1:n.*667+23_*667+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000685348.1:c.*667+23_*667+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510285.1:n.*667+23_*667+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000685437.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000508794.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000685653.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509968.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000685738.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510156.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000686409.1:n.1721_1722insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000686455.1:n.1353+23_1353+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000686479.1:n.1361+23_1361+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000686762.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509767.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000687257.1:n.1226+23_1226+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000687326.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509665.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000687486.1:c.182+259_182+260insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000687505.1:n.1108+23_1108+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000687923.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510255.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000687940.1:n.1367+23_1367+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000688269.1:n.1586+23_1586+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000688326.1:c.310+23_310+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000688444.1:n.1316+23_1316+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000688543.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509612.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000688625.1:c.*568+23_*568+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509522.1:n.*568+23_*568+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000688803.1:n.1221+23_1221+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000689097.1:c.*667+23_*667+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509756.1:n.*667+23_*667+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000689389.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510213.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000689418.1:c.*667+23_*667+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509467.1:n.*667+23_*667+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000689481.1:c.*667+23_*667+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510248.1:n.*667+23_*667+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000689540.1:n.1140+23_1140+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000689876.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000508535.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000689914.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509847.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000690397.1:c.879+23_879+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000508730.1:n.879+23_879+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000690460.1:c.978+23_978+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509106.1:n.978+23_978+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000690625.1:n.1293+23_1293+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000691268.1:c.417+23_417+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000691396.1:c.*783+23_*783+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510712.1:n.*783+23_*783+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000691724.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509255.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000691779.1:c.*568+23_*568+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000508592.1:n.*568+23_*568+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000691899.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000508763.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000692069.1:n.1236_1237insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000692093.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509669.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000692311.1:n.1494_1495insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000692558.1:n.1355+23_1355+24insTTTTAAAGATAAACATATTAACCATA | ||
| ENST00000692773.1:c.*727+23_*727+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509055.1:n.*727+23_*727+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000692830.1:c.*735+23_*735+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509461.1:n.*735+23_*735+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000693069.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510072.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000693312.1:c.765+23_765+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000508686.1:n.765+23_765+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000693664.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000509614.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000693705.1:c.*667+23_*667+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000510697.1:n.*667+23_*667+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000251849.9:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA MANE Select | ENSP00000251849.4:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000442415.7:c.1050+23_1050+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000401888.2:n.1050+23_1050+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000251849.8:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000251849.4:n.990+23_990+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000423275.5:c.*667+23_*667+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000401088.1:n.*667+23_*667+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000432427.2:c.627+23_627+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000398591.2:n.627+23_627+24insTTTTAAAGATAAACATATTAACCAT... | |
| ENST00000442415.6:c.1050+23_1050+24insTTTTAAAGATAAACATATTAACCATA | ENSP00000401888.2:n.1050+23_1050+24insTTTTAAAGATAAACATATTAACC... | |
| ENST00000465826.5:n.234+23_234+24insTTTTAAAGATAAACATATTAACCATA | ||
| NM_002880.3:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA , LRG_413t1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | NP_002871.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_005265355.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | XP_005265412.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_005265357.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | XP_005265414.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_005265358.3:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | XP_005265415.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_005265359.3:c.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | XP_005265416.1:n.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_005265360.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | XP_005265417.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_011533974.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | XP_011532276.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_011533975.1:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | XP_011532277.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354689.1:c.1050+23_1050+24insTTTTAAAGATAAACATATTAACCATA | NP_001341618.1:n.1050+23_1050+24insTTTTAAAGATAAACATATTAACCATA... | |
| NM_001354690.1:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | NP_001341619.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354691.1:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | NP_001341620.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354692.1:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | NP_001341621.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354693.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | NP_001341622.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354694.1:c.807+23_807+24insTTTTAAAGATAAACATATTAACCATA | NP_001341623.1:n.807+23_807+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354695.1:c.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | NP_001341624.1:n.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | |
| NR_148940.1:n.1405+23_1405+24insTTTTAAAGATAAACATATTAACCATA | ||
| NR_148941.1:n.1405+23_1405+24insTTTTAAAGATAAACATATTAACCATA | ||
| NR_148942.1:n.1405+23_1405+24insTTTTAAAGATAAACATATTAACCATA | ||
| XM_011533974.3:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | XP_011532276.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| XM_017006966.1:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | XP_016862455.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | |
| XR_001740227.1:n.1222+23_1222+24insTTTTAAAGATAAACATATTAACCATA | ||
| NM_001354689.3:c.1050+23_1050+24insTTTTAAAGATAAACATATTAACCATA | NP_001341618.1:n.1050+23_1050+24insTTTTAAAGATAAACATATTAACCATA... | |
| NM_001354690.2:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | NP_001341619.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354691.2:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | NP_001341620.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354692.2:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | NP_001341621.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354693.2:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | NP_001341622.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354694.2:c.807+23_807+24insTTTTAAAGATAAACATATTAACCATA | NP_001341623.1:n.807+23_807+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354695.2:c.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | NP_001341624.1:n.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | |
| NR_148940.2:n.1321+23_1321+24insTTTTAAAGATAAACATATTAACCATA | ||
| NR_148941.2:n.1321+23_1321+24insTTTTAAAGATAAACATATTAACCATA | ||
| NR_148942.2:n.1321+23_1321+24insTTTTAAAGATAAACATATTAACCATA | ||
| NM_001354690.3:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | NP_001341619.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354691.3:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | NP_001341620.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354692.3:c.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | NP_001341621.1:n.747+23_747+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354693.3:c.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | NP_001341622.1:n.891+23_891+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354694.3:c.807+23_807+24insTTTTAAAGATAAACATATTAACCATA | NP_001341623.1:n.807+23_807+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_001354695.3:c.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | NP_001341624.1:n.648+23_648+24insTTTTAAAGATAAACATATTAACCATA | |
| NM_002880.4:c.990+23_990+24insTTTTAAAGATAAACATATTAACCATA MANE Select | NP_002871.1:n.990+23_990+24insTTTTAAAGATAAACATATTAACCATA | |
| NR_148940.3:n.1321+23_1321+24insTTTTAAAGATAAACATATTAACCATA | ||
| NR_148941.3:n.1321+23_1321+24insTTTTAAAGATAAACATATTAACCATA | ||
| NR_148942.3:n.1321+23_1321+24insTTTTAAAGATAAACATATTAACCATA |