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.
Linked Data
gnomAD v4:
3-12600504-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600507_12600508del , CM000665.2:g.12600507_12600508del | GRCh38 |
| NC_000003.11:g.12642006_12642007del , CM000665.1:g.12642006_12642007del | GRCh37 |
| NC_000003.10:g.12617006_12617007del | NCBI36 |
| NG_007467.1:g.68674_68675del , LRG_413:g.68674_68675del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*512-91_*512-90del | ENSP00000401088.1:n.*512-91_*512-90del | |
| ENST00000432427.3:c.155-91_155-90del | ||
| ENST00000465826.6:n.426-91_426-90del | ||
| ENST00000491290.2:n.1212-91_1212-90del | ||
| ENST00000684903.1:c.*512-91_*512-90del | ENSP00000508612.1:n.*512-91_*512-90del | |
| ENST00000685348.1:c.*512-91_*512-90del | ENSP00000510285.1:n.*512-91_*512-90del | |
| ENST00000685437.1:c.736-91_736-90del | ENSP00000508794.1:n.736-91_736-90del | |
| ENST00000685438.1:n.508_509del | ||
| ENST00000685653.1:c.835-91_835-90del | ENSP00000509968.1:n.835-91_835-90del | |
| ENST00000685738.1:c.835-91_835-90del | ENSP00000510156.1:n.835-91_835-90del | |
| ENST00000686409.1:n.1435-91_1435-90del | ||
| ENST00000686455.1:n.1198-91_1198-90del | ||
| ENST00000686479.1:n.1206-91_1206-90del | ||
| ENST00000686762.1:c.835-91_835-90del | ENSP00000509767.1:n.835-91_835-90del | |
| ENST00000687257.1:n.1071-91_1071-90del | ||
| ENST00000687326.1:c.835-91_835-90del | ENSP00000509665.1:n.835-91_835-90del | |
| ENST00000687486.1:c.155-91_155-90del | ||
| ENST00000687505.1:n.953-91_953-90del | ||
| ENST00000687923.1:c.736-91_736-90del | ENSP00000510255.1:n.736-91_736-90del | |
| ENST00000687940.1:n.1212-91_1212-90del | ||
| ENST00000688269.1:n.1443-91_1443-90del | ||
| ENST00000688326.1:c.155-91_155-90del | ||
| ENST00000688444.1:n.1161-91_1161-90del | ||
| ENST00000688543.1:c.736-91_736-90del | ENSP00000509612.1:n.736-91_736-90del | |
| ENST00000688625.1:c.*413-91_*413-90del | ENSP00000509522.1:n.*413-91_*413-90del | |
| ENST00000688803.1:n.1066-91_1066-90del | ||
| ENST00000689097.1:c.*512-91_*512-90del | ENSP00000509756.1:n.*512-91_*512-90del | |
| ENST00000689389.1:c.835-91_835-90del | ENSP00000510213.1:n.835-91_835-90del | |
| ENST00000689418.1:c.*512-91_*512-90del | ENSP00000509467.1:n.*512-91_*512-90del | |
| ENST00000689481.1:c.*512-91_*512-90del | ENSP00000510248.1:n.*512-91_*512-90del | |
| ENST00000689540.1:n.985-91_985-90del | ||
| ENST00000689876.1:c.835-91_835-90del | ENSP00000508535.1:n.835-91_835-90del | |
| ENST00000689914.1:c.835-91_835-90del | ENSP00000509847.1:n.835-91_835-90del | |
| ENST00000690397.1:c.736-91_736-90del | ENSP00000508730.1:n.736-91_736-90del | |
| ENST00000690460.1:c.835-91_835-90del | ENSP00000509106.1:n.835-91_835-90del | |
| ENST00000690625.1:n.1138-91_1138-90del | ||
| ENST00000691268.1:c.262-91_262-90del | ||
| ENST00000691396.1:c.*628-91_*628-90del | ENSP00000510712.1:n.*628-91_*628-90del | |
| ENST00000691724.1:c.835-91_835-90del | ENSP00000509255.1:n.835-91_835-90del | |
| ENST00000691779.1:c.*413-91_*413-90del | ENSP00000508592.1:n.*413-91_*413-90del | |
| ENST00000691899.1:c.835-91_835-90del | ENSP00000508763.1:n.835-91_835-90del | |
| ENST00000692069.1:n.859_860del | ||
| ENST00000692093.1:c.736-91_736-90del | ENSP00000509669.1:n.736-91_736-90del | |
| ENST00000692311.1:n.1208-91_1208-90del | ||
| ENST00000692558.1:n.1200-91_1200-90del | ||
| ENST00000692773.1:c.*572-91_*572-90del | ENSP00000509055.1:n.*572-91_*572-90del | |
| ENST00000692830.1:c.*580-91_*580-90del | ENSP00000509461.1:n.*580-91_*580-90del | |
| ENST00000693069.1:c.736-91_736-90del | ENSP00000510072.1:n.736-91_736-90del | |
| ENST00000693312.1:c.610-91_610-90del | ENSP00000508686.1:n.610-91_610-90del | |
| ENST00000693664.1:c.835-91_835-90del | ENSP00000509614.1:n.835-91_835-90del | |
| ENST00000693705.1:c.*512-91_*512-90del | ENSP00000510697.1:n.*512-91_*512-90del | |
| ENST00000251849.9:c.835-91_835-90del MANE Select | ENSP00000251849.4:n.835-91_835-90del | |
| ENST00000442415.7:c.895-91_895-90del | ENSP00000401888.2:n.895-91_895-90del | |
| ENST00000251849.8:c.835-91_835-90del | ENSP00000251849.4:n.835-91_835-90del | |
| ENST00000423275.5:c.*512-91_*512-90del | ENSP00000401088.1:n.*512-91_*512-90del | |
| ENST00000432427.2:c.472-91_472-90del | ENSP00000398591.2:n.472-91_472-90del | |
| ENST00000442415.6:c.895-91_895-90del | ENSP00000401888.2:n.895-91_895-90del | |
| ENST00000465826.5:n.79-91_79-90del | ||
| ENST00000491290.1:n.356-91_356-90del | ||
| NM_002880.3:c.835-91_835-90del , LRG_413t1:c.835-91_835-90del | NP_002871.1:n.835-91_835-90del | |
| XM_005265355.1:c.835-91_835-90del | XP_005265412.1:n.835-91_835-90del | |
| XM_005265357.1:c.736-91_736-90del | XP_005265414.1:n.736-91_736-90del | |
| XM_005265358.3:c.592-91_592-90del | XP_005265415.1:n.592-91_592-90del | |
| XM_005265359.3:c.493-91_493-90del | XP_005265416.1:n.493-91_493-90del | |
| XM_005265360.1:c.835-91_835-90del | XP_005265417.1:n.835-91_835-90del | |
| XM_011533974.1:c.835-91_835-90del | XP_011532276.1:n.835-91_835-90del | |
| XM_011533975.1:c.592-91_592-90del | XP_011532277.1:n.592-91_592-90del | |
| NM_001354689.1:c.895-91_895-90del | NP_001341618.1:n.895-91_895-90del | |
| NM_001354690.1:c.835-91_835-90del | NP_001341619.1:n.835-91_835-90del | |
| NM_001354691.1:c.592-91_592-90del | NP_001341620.1:n.592-91_592-90del | |
| NM_001354692.1:c.592-91_592-90del | NP_001341621.1:n.592-91_592-90del | |
| NM_001354693.1:c.736-91_736-90del | NP_001341622.1:n.736-91_736-90del | |
| NM_001354694.1:c.652-91_652-90del | NP_001341623.1:n.652-91_652-90del | |
| NM_001354695.1:c.493-91_493-90del | NP_001341624.1:n.493-91_493-90del | |
| NR_148940.1:n.1250-91_1250-90del | ||
| NR_148941.1:n.1250-91_1250-90del | ||
| NR_148942.1:n.1250-91_1250-90del | ||
| XM_011533974.3:c.835-91_835-90del | XP_011532276.1:n.835-91_835-90del | |
| XM_017006966.1:c.736-91_736-90del | XP_016862455.1:n.736-91_736-90del | |
| XR_001740227.1:n.1067-91_1067-90del | ||
| NM_001354689.3:c.895-91_895-90del | NP_001341618.1:n.895-91_895-90del | |
| NM_001354690.2:c.835-91_835-90del | NP_001341619.1:n.835-91_835-90del | |
| NM_001354691.2:c.592-91_592-90del | NP_001341620.1:n.592-91_592-90del | |
| NM_001354692.2:c.592-91_592-90del | NP_001341621.1:n.592-91_592-90del | |
| NM_001354693.2:c.736-91_736-90del | NP_001341622.1:n.736-91_736-90del | |
| NM_001354694.2:c.652-91_652-90del | NP_001341623.1:n.652-91_652-90del | |
| NM_001354695.2:c.493-91_493-90del | NP_001341624.1:n.493-91_493-90del | |
| NR_148940.2:n.1166-91_1166-90del | ||
| NR_148941.2:n.1166-91_1166-90del | ||
| NR_148942.2:n.1166-91_1166-90del | ||
| NM_001354690.3:c.835-91_835-90del | NP_001341619.1:n.835-91_835-90del | |
| NM_001354691.3:c.592-91_592-90del | NP_001341620.1:n.592-91_592-90del | |
| NM_001354692.3:c.592-91_592-90del | NP_001341621.1:n.592-91_592-90del | |
| NM_001354693.3:c.736-91_736-90del | NP_001341622.1:n.736-91_736-90del | |
| NM_001354694.3:c.652-91_652-90del | NP_001341623.1:n.652-91_652-90del | |
| NM_001354695.3:c.493-91_493-90del | NP_001341624.1:n.493-91_493-90del | |
| NM_002880.4:c.835-91_835-90del MANE Select | NP_002871.1:n.835-91_835-90del | |
| NR_148940.3:n.1166-91_1166-90del | ||
| NR_148941.3:n.1166-91_1166-90del | ||
| NR_148942.3:n.1166-91_1166-90del |