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_000003.12:g.12600463_12600476del , CM000665.2:g.12600463_12600476del | GRCh38 |
| NC_000003.11:g.12641962_12641975del , CM000665.1:g.12641962_12641975del | GRCh37 |
| NC_000003.10:g.12616962_12616975del | NCBI36 |
| NG_007467.1:g.68704_68717del , LRG_413:g.68704_68717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*512-61_*512-48del | ENSP00000401088.1:n.*512-61_*512-48del | |
| ENST00000432427.3:c.155-61_155-48del | ||
| ENST00000465826.6:n.426-61_426-48del | ||
| ENST00000491290.2:n.1212-61_1212-48del | ||
| ENST00000684903.1:c.*512-61_*512-48del | ENSP00000508612.1:n.*512-61_*512-48del | |
| ENST00000685348.1:c.*512-61_*512-48del | ENSP00000510285.1:n.*512-61_*512-48del | |
| ENST00000685437.1:c.736-61_736-48del | ENSP00000508794.1:n.736-61_736-48del | |
| ENST00000685438.1:n.538_551del | ||
| ENST00000685653.1:c.835-61_835-48del | ENSP00000509968.1:n.835-61_835-48del | |
| ENST00000685738.1:c.835-61_835-48del | ENSP00000510156.1:n.835-61_835-48del | |
| ENST00000686409.1:n.1435-61_1435-48del | ||
| ENST00000686455.1:n.1198-61_1198-48del | ||
| ENST00000686479.1:n.1206-61_1206-48del | ||
| ENST00000686762.1:c.835-61_835-48del | ENSP00000509767.1:n.835-61_835-48del | |
| ENST00000687257.1:n.1071-61_1071-48del | ||
| ENST00000687326.1:c.835-61_835-48del | ENSP00000509665.1:n.835-61_835-48del | |
| ENST00000687486.1:c.155-61_155-48del | ||
| ENST00000687505.1:n.953-61_953-48del | ||
| ENST00000687923.1:c.736-61_736-48del | ENSP00000510255.1:n.736-61_736-48del | |
| ENST00000687940.1:n.1212-61_1212-48del | ||
| ENST00000688269.1:n.1443-61_1443-48del | ||
| ENST00000688326.1:c.155-61_155-48del | ||
| ENST00000688444.1:n.1161-61_1161-48del | ||
| ENST00000688543.1:c.736-61_736-48del | ENSP00000509612.1:n.736-61_736-48del | |
| ENST00000688625.1:c.*413-61_*413-48del | ENSP00000509522.1:n.*413-61_*413-48del | |
| ENST00000688803.1:n.1066-61_1066-48del | ||
| ENST00000689097.1:c.*512-61_*512-48del | ENSP00000509756.1:n.*512-61_*512-48del | |
| ENST00000689389.1:c.835-61_835-48del | ENSP00000510213.1:n.835-61_835-48del | |
| ENST00000689418.1:c.*512-61_*512-48del | ENSP00000509467.1:n.*512-61_*512-48del | |
| ENST00000689481.1:c.*512-61_*512-48del | ENSP00000510248.1:n.*512-61_*512-48del | |
| ENST00000689540.1:n.985-61_985-48del | ||
| ENST00000689876.1:c.835-61_835-48del | ENSP00000508535.1:n.835-61_835-48del | |
| ENST00000689914.1:c.835-61_835-48del | ENSP00000509847.1:n.835-61_835-48del | |
| ENST00000690397.1:c.736-61_736-48del | ENSP00000508730.1:n.736-61_736-48del | |
| ENST00000690460.1:c.835-61_835-48del | ENSP00000509106.1:n.835-61_835-48del | |
| ENST00000690625.1:n.1138-61_1138-48del | ||
| ENST00000691268.1:c.262-61_262-48del | ||
| ENST00000691396.1:c.*628-61_*628-48del | ENSP00000510712.1:n.*628-61_*628-48del | |
| ENST00000691724.1:c.835-61_835-48del | ENSP00000509255.1:n.835-61_835-48del | |
| ENST00000691779.1:c.*413-61_*413-48del | ENSP00000508592.1:n.*413-61_*413-48del | |
| ENST00000691899.1:c.835-61_835-48del | ENSP00000508763.1:n.835-61_835-48del | |
| ENST00000692069.1:n.889_902del | ||
| ENST00000692093.1:c.736-61_736-48del | ENSP00000509669.1:n.736-61_736-48del | |
| ENST00000692311.1:n.1208-61_1208-48del | ||
| ENST00000692558.1:n.1200-61_1200-48del | ||
| ENST00000692773.1:c.*572-61_*572-48del | ENSP00000509055.1:n.*572-61_*572-48del | |
| ENST00000692830.1:c.*580-61_*580-48del | ENSP00000509461.1:n.*580-61_*580-48del | |
| ENST00000693069.1:c.736-61_736-48del | ENSP00000510072.1:n.736-61_736-48del | |
| ENST00000693312.1:c.610-61_610-48del | ENSP00000508686.1:n.610-61_610-48del | |
| ENST00000693664.1:c.835-61_835-48del | ENSP00000509614.1:n.835-61_835-48del | |
| ENST00000693705.1:c.*512-61_*512-48del | ENSP00000510697.1:n.*512-61_*512-48del | |
| ENST00000251849.9:c.835-61_835-48del MANE Select | ENSP00000251849.4:n.835-61_835-48del | |
| ENST00000442415.7:c.895-61_895-48del | ENSP00000401888.2:n.895-61_895-48del | |
| ENST00000251849.8:c.835-61_835-48del | ENSP00000251849.4:n.835-61_835-48del | |
| ENST00000423275.5:c.*512-61_*512-48del | ENSP00000401088.1:n.*512-61_*512-48del | |
| ENST00000432427.2:c.472-61_472-48del | ENSP00000398591.2:n.472-61_472-48del | |
| ENST00000442415.6:c.895-61_895-48del | ENSP00000401888.2:n.895-61_895-48del | |
| ENST00000465826.5:n.79-61_79-48del | ||
| ENST00000491290.1:n.356-61_356-48del | ||
| NM_002880.3:c.835-61_835-48del , LRG_413t1:c.835-61_835-48del | NP_002871.1:n.835-61_835-48del | |
| XM_005265355.1:c.835-61_835-48del | XP_005265412.1:n.835-61_835-48del | |
| XM_005265357.1:c.736-61_736-48del | XP_005265414.1:n.736-61_736-48del | |
| XM_005265358.3:c.592-61_592-48del | XP_005265415.1:n.592-61_592-48del | |
| XM_005265359.3:c.493-61_493-48del | XP_005265416.1:n.493-61_493-48del | |
| XM_005265360.1:c.835-61_835-48del | XP_005265417.1:n.835-61_835-48del | |
| XM_011533974.1:c.835-61_835-48del | XP_011532276.1:n.835-61_835-48del | |
| XM_011533975.1:c.592-61_592-48del | XP_011532277.1:n.592-61_592-48del | |
| NM_001354689.1:c.895-61_895-48del | NP_001341618.1:n.895-61_895-48del | |
| NM_001354690.1:c.835-61_835-48del | NP_001341619.1:n.835-61_835-48del | |
| NM_001354691.1:c.592-61_592-48del | NP_001341620.1:n.592-61_592-48del | |
| NM_001354692.1:c.592-61_592-48del | NP_001341621.1:n.592-61_592-48del | |
| NM_001354693.1:c.736-61_736-48del | NP_001341622.1:n.736-61_736-48del | |
| NM_001354694.1:c.652-61_652-48del | NP_001341623.1:n.652-61_652-48del | |
| NM_001354695.1:c.493-61_493-48del | NP_001341624.1:n.493-61_493-48del | |
| NR_148940.1:n.1250-61_1250-48del | ||
| NR_148941.1:n.1250-61_1250-48del | ||
| NR_148942.1:n.1250-61_1250-48del | ||
| XM_011533974.3:c.835-61_835-48del | XP_011532276.1:n.835-61_835-48del | |
| XM_017006966.1:c.736-61_736-48del | XP_016862455.1:n.736-61_736-48del | |
| XR_001740227.1:n.1067-61_1067-48del | ||
| NM_001354689.3:c.895-61_895-48del | NP_001341618.1:n.895-61_895-48del | |
| NM_001354690.2:c.835-61_835-48del | NP_001341619.1:n.835-61_835-48del | |
| NM_001354691.2:c.592-61_592-48del | NP_001341620.1:n.592-61_592-48del | |
| NM_001354692.2:c.592-61_592-48del | NP_001341621.1:n.592-61_592-48del | |
| NM_001354693.2:c.736-61_736-48del | NP_001341622.1:n.736-61_736-48del | |
| NM_001354694.2:c.652-61_652-48del | NP_001341623.1:n.652-61_652-48del | |
| NM_001354695.2:c.493-61_493-48del | NP_001341624.1:n.493-61_493-48del | |
| NR_148940.2:n.1166-61_1166-48del | ||
| NR_148941.2:n.1166-61_1166-48del | ||
| NR_148942.2:n.1166-61_1166-48del | ||
| NM_001354690.3:c.835-61_835-48del | NP_001341619.1:n.835-61_835-48del | |
| NM_001354691.3:c.592-61_592-48del | NP_001341620.1:n.592-61_592-48del | |
| NM_001354692.3:c.592-61_592-48del | NP_001341621.1:n.592-61_592-48del | |
| NM_001354693.3:c.736-61_736-48del | NP_001341622.1:n.736-61_736-48del | |
| NM_001354694.3:c.652-61_652-48del | NP_001341623.1:n.652-61_652-48del | |
| NM_001354695.3:c.493-61_493-48del | NP_001341624.1:n.493-61_493-48del | |
| NM_002880.4:c.835-61_835-48del MANE Select | NP_002871.1:n.835-61_835-48del | |
| NR_148940.3:n.1166-61_1166-48del | ||
| NR_148941.3:n.1166-61_1166-48del | ||
| NR_148942.3:n.1166-61_1166-48del |