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.12608371_12608374delinsCCTT , CM000665.2:g.12608371_12608374delinsCCTT | GRCh38 |
| NC_000003.11:g.12649870_12649873delinsCCTT , CM000665.1:g.12649870_12649873delinsCCTT | GRCh37 |
| NC_000003.10:g.12624870_12624873delinsCCTT | NCBI36 |
| NG_007467.1:g.60806_60809delinsAAGG , LRG_413:g.60806_60809delinsAAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416093.2:c.*258+392_*258+395delinsAAGG | ENSP00000391265.2:n.*258+392_*258+395delinsAAGG | |
| ENST00000423275.6:c.*258+392_*258+395delinsAAGG | ENSP00000401088.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000491290.2:n.958+392_958+395delinsAAGG | ||
| ENST00000684903.1:c.*258+392_*258+395delinsAAGG | ENSP00000508612.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000685348.1:c.*258+392_*258+395delinsAAGG | ENSP00000510285.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000685437.1:c.581+392_581+395delinsAAGG | ENSP00000508794.1:n.581+392_581+395delinsAAGG | |
| ENST00000685653.1:c.581+392_581+395delinsAAGG | ENSP00000509968.1:n.581+392_581+395delinsAAGG | |
| ENST00000685738.1:c.581+392_581+395delinsAAGG | ENSP00000510156.1:n.581+392_581+395delinsAAGG | |
| ENST00000685959.1:c.581+392_581+395delinsAAGG | ENSP00000510452.1:n.581+392_581+395delinsAAGG | |
| ENST00000686409.1:n.1181+392_1181+395delinsAAGG | ||
| ENST00000686455.1:n.944+392_944+395delinsAAGG | ||
| ENST00000686479.1:n.952+392_952+395delinsAAGG | ||
| ENST00000686762.1:c.581+392_581+395delinsAAGG | ENSP00000509767.1:n.581+392_581+395delinsAAGG | |
| ENST00000687257.1:n.916+392_916+395delinsAAGG | ||
| ENST00000687326.1:c.581+392_581+395delinsAAGG | ENSP00000509665.1:n.581+392_581+395delinsAAGG | |
| ENST00000687348.1:c.*190+392_*190+395delinsAAGG | ENSP00000509787.1:n.*190+392_*190+395delinsAAGG | |
| ENST00000687923.1:c.581+392_581+395delinsAAGG | ENSP00000510255.1:n.581+392_581+395delinsAAGG | |
| ENST00000687940.1:n.958+392_958+395delinsAAGG | ||
| ENST00000688269.1:n.1189+392_1189+395delinsAAGG | ||
| ENST00000688444.1:n.907+392_907+395delinsAAGG | ||
| ENST00000688543.1:c.581+392_581+395delinsAAGG | ENSP00000509612.1:n.581+392_581+395delinsAAGG | |
| ENST00000688625.1:c.*258+392_*258+395delinsAAGG | ENSP00000509522.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000688803.1:n.911+392_911+395delinsAAGG | ||
| ENST00000689033.1:c.581+392_581+395delinsAAGG | ENSP00000508983.1:n.581+392_581+395delinsAAGG | |
| ENST00000689097.1:c.*258+392_*258+395delinsAAGG | ENSP00000509756.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000689226.1:c.581+392_581+395delinsAAGG | ENSP00000510613.1:n.581+392_581+395delinsAAGG | |
| ENST00000689389.1:c.581+392_581+395delinsAAGG | ENSP00000510213.1:n.581+392_581+395delinsAAGG | |
| ENST00000689418.1:c.*258+392_*258+395delinsAAGG | ENSP00000509467.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000689481.1:c.*258+392_*258+395delinsAAGG | ENSP00000510248.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000689540.1:n.731+392_731+395delinsAAGG | ||
| ENST00000689876.1:c.581+392_581+395delinsAAGG | ENSP00000508535.1:n.581+392_581+395delinsAAGG | |
| ENST00000689914.1:c.581+392_581+395delinsAAGG | ENSP00000509847.1:n.581+392_581+395delinsAAGG | |
| ENST00000690397.1:c.581+392_581+395delinsAAGG | ENSP00000508730.1:n.581+392_581+395delinsAAGG | |
| ENST00000690460.1:c.581+392_581+395delinsAAGG | ENSP00000509106.1:n.581+392_581+395delinsAAGG | |
| ENST00000690625.1:n.884+392_884+395delinsAAGG | ||
| ENST00000691268.1:c.261+392_261+395delinsAAGG | ||
| ENST00000691396.1:c.*374+392_*374+395delinsAAGG | ENSP00000510712.1:n.*374+392_*374+395delinsAAGG | |
| ENST00000691724.1:c.581+392_581+395delinsAAGG | ENSP00000509255.1:n.581+392_581+395delinsAAGG | |
| ENST00000691779.1:c.*258+392_*258+395delinsAAGG | ENSP00000508592.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000691899.1:c.581+392_581+395delinsAAGG | ENSP00000508763.1:n.581+392_581+395delinsAAGG | |
| ENST00000692093.1:c.581+392_581+395delinsAAGG | ENSP00000509669.1:n.581+392_581+395delinsAAGG | |
| ENST00000692311.1:n.954+392_954+395delinsAAGG | ||
| ENST00000692558.1:n.946+392_946+395delinsAAGG | ||
| ENST00000692773.1:c.*258+392_*258+395delinsAAGG | ENSP00000509055.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000692777.1:n.909+392_909+395delinsAAGG | ||
| ENST00000692830.1:c.*326+392_*326+395delinsAAGG | ENSP00000509461.1:n.*326+392_*326+395delinsAAGG | |
| ENST00000693069.1:c.581+392_581+395delinsAAGG | ENSP00000510072.1:n.581+392_581+395delinsAAGG | |
| ENST00000693312.1:c.356+392_356+395delinsAAGG | ENSP00000508686.1:n.356+392_356+395delinsAAGG | |
| ENST00000693664.1:c.581+392_581+395delinsAAGG | ENSP00000509614.1:n.581+392_581+395delinsAAGG | |
| ENST00000693705.1:c.*258+392_*258+395delinsAAGG | ENSP00000510697.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000251849.9:c.581+392_581+395delinsAAGG MANE Select | ENSP00000251849.4:n.581+392_581+395delinsAAGG | |
| ENST00000442415.7:c.581+392_581+395delinsAAGG | ENSP00000401888.2:n.581+392_581+395delinsAAGG | |
| ENST00000251849.8:c.581+392_581+395delinsAAGG | ENSP00000251849.4:n.581+392_581+395delinsAAGG | |
| ENST00000416093.1:c.*258+392_*258+395delinsAAGG | ENSP00000391265.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000423275.5:c.*258+392_*258+395delinsAAGG | ENSP00000401088.1:n.*258+392_*258+395delinsAAGG | |
| ENST00000432427.2:c.317+392_317+395delinsAAGG | ENSP00000398591.2:n.317+392_317+395delinsAAGG | |
| ENST00000442415.6:c.581+392_581+395delinsAAGG | ENSP00000401888.2:n.581+392_581+395delinsAAGG | |
| ENST00000491290.1:n.102+392_102+395delinsAAGG | ||
| NM_002880.3:c.581+392_581+395delinsAAGG , LRG_413t1:c.581+392_581+395delinsAAGG | NP_002871.1:n.581+392_581+395delinsAAGG | |
| XM_005265355.1:c.581+392_581+395delinsAAGG | XP_005265412.1:n.581+392_581+395delinsAAGG | |
| XM_005265357.1:c.581+392_581+395delinsAAGG | XP_005265414.1:n.581+392_581+395delinsAAGG | |
| XM_005265358.3:c.338+392_338+395delinsAAGG | XP_005265415.1:n.338+392_338+395delinsAAGG | |
| XM_005265359.3:c.338+392_338+395delinsAAGG | XP_005265416.1:n.338+392_338+395delinsAAGG | |
| XM_005265360.1:c.581+392_581+395delinsAAGG | XP_005265417.1:n.581+392_581+395delinsAAGG | |
| XM_011533974.1:c.581+392_581+395delinsAAGG | XP_011532276.1:n.581+392_581+395delinsAAGG | |
| XM_011533975.1:c.338+392_338+395delinsAAGG | XP_011532277.1:n.338+392_338+395delinsAAGG | |
| NM_001354689.1:c.581+392_581+395delinsAAGG | NP_001341618.1:n.581+392_581+395delinsAAGG | |
| NM_001354690.1:c.581+392_581+395delinsAAGG | NP_001341619.1:n.581+392_581+395delinsAAGG | |
| NM_001354691.1:c.338+392_338+395delinsAAGG | NP_001341620.1:n.338+392_338+395delinsAAGG | |
| NM_001354692.1:c.338+392_338+395delinsAAGG | NP_001341621.1:n.338+392_338+395delinsAAGG | |
| NM_001354693.1:c.581+392_581+395delinsAAGG | NP_001341622.1:n.581+392_581+395delinsAAGG | |
| NM_001354694.1:c.338+392_338+395delinsAAGG | NP_001341623.1:n.338+392_338+395delinsAAGG | |
| NM_001354695.1:c.338+392_338+395delinsAAGG | NP_001341624.1:n.338+392_338+395delinsAAGG | |
| NR_148940.1:n.996+392_996+395delinsAAGG | ||
| NR_148941.1:n.996+392_996+395delinsAAGG | ||
| NR_148942.1:n.996+392_996+395delinsAAGG | ||
| XM_011533974.3:c.581+392_581+395delinsAAGG | XP_011532276.1:n.581+392_581+395delinsAAGG | |
| XM_017006966.1:c.581+392_581+395delinsAAGG | XP_016862455.1:n.581+392_581+395delinsAAGG | |
| XR_001740227.1:n.912+392_912+395delinsAAGG | ||
| NM_001354689.3:c.581+392_581+395delinsAAGG | NP_001341618.1:n.581+392_581+395delinsAAGG | |
| NM_001354690.2:c.581+392_581+395delinsAAGG | NP_001341619.1:n.581+392_581+395delinsAAGG | |
| NM_001354691.2:c.338+392_338+395delinsAAGG | NP_001341620.1:n.338+392_338+395delinsAAGG | |
| NM_001354692.2:c.338+392_338+395delinsAAGG | NP_001341621.1:n.338+392_338+395delinsAAGG | |
| NM_001354693.2:c.581+392_581+395delinsAAGG | NP_001341622.1:n.581+392_581+395delinsAAGG | |
| NM_001354694.2:c.338+392_338+395delinsAAGG | NP_001341623.1:n.338+392_338+395delinsAAGG | |
| NM_001354695.2:c.338+392_338+395delinsAAGG | NP_001341624.1:n.338+392_338+395delinsAAGG | |
| NR_148940.2:n.912+392_912+395delinsAAGG | ||
| NR_148941.2:n.912+392_912+395delinsAAGG | ||
| NR_148942.2:n.912+392_912+395delinsAAGG | ||
| NM_001354690.3:c.581+392_581+395delinsAAGG | NP_001341619.1:n.581+392_581+395delinsAAGG | |
| NM_001354691.3:c.338+392_338+395delinsAAGG | NP_001341620.1:n.338+392_338+395delinsAAGG | |
| NM_001354692.3:c.338+392_338+395delinsAAGG | NP_001341621.1:n.338+392_338+395delinsAAGG | |
| NM_001354693.3:c.581+392_581+395delinsAAGG | NP_001341622.1:n.581+392_581+395delinsAAGG | |
| NM_001354694.3:c.338+392_338+395delinsAAGG | NP_001341623.1:n.338+392_338+395delinsAAGG | |
| NM_001354695.3:c.338+392_338+395delinsAAGG | NP_001341624.1:n.338+392_338+395delinsAAGG | |
| NM_002880.4:c.581+392_581+395delinsAAGG MANE Select | NP_002871.1:n.581+392_581+395delinsAAGG | |
| NR_148940.3:n.912+392_912+395delinsAAGG | ||
| NR_148941.3:n.912+392_912+395delinsAAGG | ||
| NR_148942.3:n.912+392_912+395delinsAAGG |