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:
3-12599949-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12599952_12599953del , CM000665.2:g.12599952_12599953del | GRCh38 |
| NC_000003.11:g.12641451_12641452del , CM000665.1:g.12641451_12641452del | GRCh37 |
| NC_000003.10:g.12616451_12616452del | NCBI36 |
| NG_007467.1:g.69229_69230del , LRG_413:g.69229_69230del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*656-143_*656-142del | ENSP00000401088.1:n.*656-143_*656-142del | |
| ENST00000432427.3:c.311-143_311-142del | ||
| ENST00000465826.6:n.582-143_582-142del | ||
| ENST00000491290.2:n.1368-143_1368-142del | ||
| ENST00000684903.1:c.*668-143_*668-142del | ENSP00000508612.1:n.*668-143_*668-142del | |
| ENST00000685348.1:c.*668-143_*668-142del | ENSP00000510285.1:n.*668-143_*668-142del | |
| ENST00000685437.1:c.892-143_892-142del | ENSP00000508794.1:n.892-143_892-142del | |
| ENST00000685653.1:c.991-143_991-142del | ENSP00000509968.1:n.991-143_991-142del | |
| ENST00000685738.1:c.991-143_991-142del | ENSP00000510156.1:n.991-143_991-142del | |
| ENST00000686409.1:n.1899_1900del | ||
| ENST00000686455.1:n.1354-143_1354-142del | ||
| ENST00000686479.1:n.1362-143_1362-142del | ||
| ENST00000686762.1:c.991-143_991-142del | ENSP00000509767.1:n.991-143_991-142del | |
| ENST00000687257.1:n.1227-143_1227-142del | ||
| ENST00000687326.1:c.991-143_991-142del | ENSP00000509665.1:n.991-143_991-142del | |
| ENST00000687486.1:c.183-143_183-142del | ||
| ENST00000687505.1:n.1109-143_1109-142del | ||
| ENST00000687923.1:c.892-143_892-142del | ENSP00000510255.1:n.892-143_892-142del | |
| ENST00000687940.1:n.1368-143_1368-142del | ||
| ENST00000688269.1:n.1587-143_1587-142del | ||
| ENST00000688326.1:c.311-143_311-142del | ||
| ENST00000688444.1:n.1317-143_1317-142del | ||
| ENST00000688543.1:c.892-143_892-142del | ENSP00000509612.1:n.892-143_892-142del | |
| ENST00000688625.1:c.*569-143_*569-142del | ENSP00000509522.1:n.*569-143_*569-142del | |
| ENST00000688803.1:n.1222-143_1222-142del | ||
| ENST00000689097.1:c.*668-143_*668-142del | ENSP00000509756.1:n.*668-143_*668-142del | |
| ENST00000689389.1:c.991-143_991-142del | ENSP00000510213.1:n.991-143_991-142del | |
| ENST00000689418.1:c.*668-143_*668-142del | ENSP00000509467.1:n.*668-143_*668-142del | |
| ENST00000689481.1:c.*668-143_*668-142del | ENSP00000510248.1:n.*668-143_*668-142del | |
| ENST00000689540.1:n.1141-143_1141-142del | ||
| ENST00000689876.1:c.991-143_991-142del | ENSP00000508535.1:n.991-143_991-142del | |
| ENST00000689914.1:c.991-143_991-142del | ENSP00000509847.1:n.991-143_991-142del | |
| ENST00000690397.1:c.880-143_880-142del | ENSP00000508730.1:n.880-143_880-142del | |
| ENST00000690460.1:c.979-143_979-142del | ENSP00000509106.1:n.979-143_979-142del | |
| ENST00000690625.1:n.1294-143_1294-142del | ||
| ENST00000691268.1:c.418-143_418-142del | ||
| ENST00000691396.1:c.*784-143_*784-142del | ENSP00000510712.1:n.*784-143_*784-142del | |
| ENST00000691724.1:c.991-145_991-144del | ENSP00000509255.1:n.991-145_991-144del | |
| ENST00000691779.1:c.*569-143_*569-142del | ENSP00000508592.1:n.*569-143_*569-142del | |
| ENST00000691899.1:c.991-143_991-142del | ENSP00000508763.1:n.991-143_991-142del | |
| ENST00000692069.1:n.1414_1415del | ||
| ENST00000692093.1:c.892-143_892-142del | ENSP00000509669.1:n.892-143_892-142del | |
| ENST00000692311.1:n.1672_1673del | ||
| ENST00000692558.1:n.1356-143_1356-142del | ||
| ENST00000692773.1:c.*728-143_*728-142del | ENSP00000509055.1:n.*728-143_*728-142del | |
| ENST00000692830.1:c.*736-143_*736-142del | ENSP00000509461.1:n.*736-143_*736-142del | |
| ENST00000693069.1:c.892-143_892-142del | ENSP00000510072.1:n.892-143_892-142del | |
| ENST00000693312.1:c.766-143_766-142del | ENSP00000508686.1:n.766-143_766-142del | |
| ENST00000693664.1:c.991-143_991-142del | ENSP00000509614.1:n.991-143_991-142del | |
| ENST00000693705.1:c.*668-143_*668-142del | ENSP00000510697.1:n.*668-143_*668-142del | |
| ENST00000251849.9:c.991-143_991-142del MANE Select | ENSP00000251849.4:n.991-143_991-142del | |
| ENST00000442415.7:c.1051-143_1051-142del | ENSP00000401888.2:n.1051-143_1051-142del | |
| ENST00000251849.8:c.991-143_991-142del | ENSP00000251849.4:n.991-143_991-142del | |
| ENST00000423275.5:c.*668-143_*668-142del | ENSP00000401088.1:n.*668-143_*668-142del | |
| ENST00000432427.2:c.628-143_628-142del | ENSP00000398591.2:n.628-143_628-142del | |
| ENST00000442415.6:c.1051-143_1051-142del | ENSP00000401888.2:n.1051-143_1051-142del | |
| ENST00000465826.5:n.235-143_235-142del | ||
| NM_002880.3:c.991-143_991-142del , LRG_413t1:c.991-143_991-142del | NP_002871.1:n.991-143_991-142del | |
| XM_005265355.1:c.991-143_991-142del | XP_005265412.1:n.991-143_991-142del | |
| XM_005265357.1:c.892-143_892-142del | XP_005265414.1:n.892-143_892-142del | |
| XM_005265358.3:c.748-143_748-142del | XP_005265415.1:n.748-143_748-142del | |
| XM_005265359.3:c.649-143_649-142del | XP_005265416.1:n.649-143_649-142del | |
| XM_005265360.1:c.991-143_991-142del | XP_005265417.1:n.991-143_991-142del | |
| XM_011533974.1:c.991-143_991-142del | XP_011532276.1:n.991-143_991-142del | |
| XM_011533975.1:c.748-143_748-142del | XP_011532277.1:n.748-143_748-142del | |
| NM_001354689.1:c.1051-143_1051-142del | NP_001341618.1:n.1051-143_1051-142del | |
| NM_001354690.1:c.991-143_991-142del | NP_001341619.1:n.991-143_991-142del | |
| NM_001354691.1:c.748-143_748-142del | NP_001341620.1:n.748-143_748-142del | |
| NM_001354692.1:c.748-143_748-142del | NP_001341621.1:n.748-143_748-142del | |
| NM_001354693.1:c.892-143_892-142del | NP_001341622.1:n.892-143_892-142del | |
| NM_001354694.1:c.808-143_808-142del | NP_001341623.1:n.808-143_808-142del | |
| NM_001354695.1:c.649-143_649-142del | NP_001341624.1:n.649-143_649-142del | |
| NR_148940.1:n.1406-143_1406-142del | ||
| NR_148941.1:n.1406-143_1406-142del | ||
| NR_148942.1:n.1406-145_1406-144del | ||
| XM_011533974.3:c.991-143_991-142del | XP_011532276.1:n.991-143_991-142del | |
| XM_017006966.1:c.892-143_892-142del | XP_016862455.1:n.892-143_892-142del | |
| XR_001740227.1:n.1223-143_1223-142del | ||
| NM_001354689.3:c.1051-143_1051-142del | NP_001341618.1:n.1051-143_1051-142del | |
| NM_001354690.2:c.991-143_991-142del | NP_001341619.1:n.991-143_991-142del | |
| NM_001354691.2:c.748-143_748-142del | NP_001341620.1:n.748-143_748-142del | |
| NM_001354692.2:c.748-143_748-142del | NP_001341621.1:n.748-143_748-142del | |
| NM_001354693.2:c.892-143_892-142del | NP_001341622.1:n.892-143_892-142del | |
| NM_001354694.2:c.808-143_808-142del | NP_001341623.1:n.808-143_808-142del | |
| NM_001354695.2:c.649-143_649-142del | NP_001341624.1:n.649-143_649-142del | |
| NR_148940.2:n.1322-143_1322-142del | ||
| NR_148941.2:n.1322-143_1322-142del | ||
| NR_148942.2:n.1322-145_1322-144del | ||
| NM_001354690.3:c.991-143_991-142del | NP_001341619.1:n.991-143_991-142del | |
| NM_001354691.3:c.748-143_748-142del | NP_001341620.1:n.748-143_748-142del | |
| NM_001354692.3:c.748-143_748-142del | NP_001341621.1:n.748-143_748-142del | |
| NM_001354693.3:c.892-143_892-142del | NP_001341622.1:n.892-143_892-142del | |
| NM_001354694.3:c.808-143_808-142del | NP_001341623.1:n.808-143_808-142del | |
| NM_001354695.3:c.649-143_649-142del | NP_001341624.1:n.649-143_649-142del | |
| NM_002880.4:c.991-143_991-142del MANE Select | NP_002871.1:n.991-143_991-142del | |
| NR_148940.3:n.1322-143_1322-142del | ||
| NR_148941.3:n.1322-143_1322-142del | ||
| NR_148942.3:n.1322-145_1322-144del |