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
dbSNP Id:
rs2125395697
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12603948_12603949insAGGCTATTAATGAACAAGTGTCTAA , CM000665.2:g.12603948_12603949insAGGCTATTAATGAACAAGTGTCTAA | GRCh38 |
| NC_000003.11:g.12645447_12645448insAGGCTATTAATGAACAAGTGTCTAA , CM000665.1:g.12645447_12645448insAGGCTATTAATGAACAAGTGTCTAA | GRCh37 |
| NC_000003.10:g.12620447_12620448insAGGCTATTAATGAACAAGTGTCTAA | NCBI36 |
| NG_007467.1:g.65231_65232insTTAGACACTTGTTCATTAATAGCCT , LRG_413:g.65231_65232insTTAGACACTTGTTCATTAATAGCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000401088.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000432427.3:c.154+187_154+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000465826.6:n.425+187_425+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000491290.2:n.1211+187_1211+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000684903.1:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000508612.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000685348.1:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510285.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000685437.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000508794.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000685653.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509968.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000685738.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510156.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000686409.1:n.1434+187_1434+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000686455.1:n.1197+187_1197+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000686479.1:n.1205+187_1205+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000686762.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509767.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000687257.1:n.1070+187_1070+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000687326.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509665.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000687486.1:c.154+187_154+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000687505.1:n.952+187_952+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000687923.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510255.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000687940.1:n.1211+187_1211+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000688269.1:n.1442+187_1442+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000688326.1:c.154+187_154+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000688444.1:n.1160+187_1160+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000688543.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509612.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000688625.1:c.*412+187_*412+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509522.1:n.*412+187_*412+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000688803.1:n.1065+187_1065+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000689097.1:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509756.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000689389.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510213.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000689418.1:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509467.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000689481.1:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510248.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000689540.1:n.984+187_984+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000689876.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000508535.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000689914.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509847.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000690397.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000508730.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000690460.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509106.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000690625.1:n.1137+187_1137+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000691268.1:c.262-3534_262-3533insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000691396.1:c.*627+187_*627+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510712.1:n.*627+187_*627+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000691724.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509255.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000691779.1:c.*412+187_*412+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000508592.1:n.*412+187_*412+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000691899.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000508763.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000692093.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509669.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000692311.1:n.1207+187_1207+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000692558.1:n.1199+187_1199+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000692773.1:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509055.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000692830.1:c.*579+187_*579+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509461.1:n.*579+187_*579+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000693069.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510072.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000693312.1:c.609+187_609+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000508686.1:n.609+187_609+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000693664.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000509614.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000693705.1:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000510697.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000251849.9:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT MANE Select | ENSP00000251849.4:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000442415.7:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000401888.2:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000251849.8:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000251849.4:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000423275.5:c.*511+187_*511+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000401088.1:n.*511+187_*511+188insTTAGACACTTGTTCATTAATA... | |
| ENST00000432427.2:c.471+187_471+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000398591.2:n.471+187_471+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000442415.6:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | ENSP00000401888.2:n.834+187_834+188insTTAGACACTTGTTCATTAATAGC... | |
| ENST00000465826.5:n.78+187_78+188insTTAGACACTTGTTCATTAATAGCCT | ||
| ENST00000491290.1:n.355+187_355+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NM_002880.3:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT , LRG_413t1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | NP_002871.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_005265355.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | XP_005265412.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_005265357.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | XP_005265414.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_005265358.3:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | XP_005265415.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_005265359.3:c.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | XP_005265416.1:n.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_005265360.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | XP_005265417.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_011533974.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | XP_011532276.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_011533975.1:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | XP_011532277.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354689.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341618.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354690.1:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341619.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354691.1:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341620.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354692.1:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341621.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354693.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341622.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354694.1:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341623.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354695.1:c.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341624.1:n.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | |
| NR_148940.1:n.1249+187_1249+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NR_148941.1:n.1249+187_1249+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NR_148942.1:n.1249+187_1249+188insTTAGACACTTGTTCATTAATAGCCT | ||
| XM_011533974.3:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | XP_011532276.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| XM_017006966.1:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | XP_016862455.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | |
| XR_001740227.1:n.1066+187_1066+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NM_001354689.3:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341618.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354690.2:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341619.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354691.2:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341620.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354692.2:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341621.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354693.2:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341622.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354694.2:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341623.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354695.2:c.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341624.1:n.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | |
| NR_148940.2:n.1165+187_1165+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NR_148941.2:n.1165+187_1165+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NR_148942.2:n.1165+187_1165+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NM_001354690.3:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341619.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354691.3:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341620.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354692.3:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341621.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354693.3:c.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341622.1:n.735+187_735+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354694.3:c.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341623.1:n.591+187_591+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_001354695.3:c.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | NP_001341624.1:n.492+187_492+188insTTAGACACTTGTTCATTAATAGCCT | |
| NM_002880.4:c.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT MANE Select | NP_002871.1:n.834+187_834+188insTTAGACACTTGTTCATTAATAGCCT | |
| NR_148940.3:n.1165+187_1165+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NR_148941.3:n.1165+187_1165+188insTTAGACACTTGTTCATTAATAGCCT | ||
| NR_148942.3:n.1165+187_1165+188insTTAGACACTTGTTCATTAATAGCCT |