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_000001.11:g.19078366_19078385delinsTGCAAGGCTAGTGACTTAAA , CM000663.2:g.19078366_19078385delinsTGCAAGGCTAGTGACTTAAA | GRCh38 |
| NC_000001.10:g.19404860_19404879delinsTGCAAGGCTAGTGACTTAAA , CM000663.1:g.19404860_19404879delinsTGCAAGGCTAGTGACTTAAA | GRCh37 |
| NC_000001.9:g.19277447_19277466delinsTGCAAGGCTAGTGACTTAAA | NCBI36 |
| NG_027669.1:g.136868_136887delinsTTTAAGTCACTAGCCTTGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15234-319_15234-300delinsTTTAAGTCACTAGCCTTGCA MANE Select | ENSP00000364403.3:n.15234-319_15234-300delinsTTTAAGTCACTAGCCT... | |
| ENST00000375224.1:c.2355-319_2355-300delinsTTTAAGTCACTAGCCTTGCA | ENSP00000364372.1:n.2355-319_2355-300delinsTTTAAGTCACTAGCCTTG... | |
| ENST00000375225.7:c.459-319_459-300delinsTTTAAGTCACTAGCCTTGCA | ENSP00000364373.3:n.459-319_459-300delinsTTTAAGTCACTAGCCTTGCA... | |
| ENST00000375254.7:c.15234-319_15234-300delinsTTTAAGTCACTAGCCTTGCA | ENSP00000364403.3:n.15234-319_15234-300delinsTTTAAGTCACTAGCCT... | |
| ENST00000459947.5:n.2922_2941delinsTTTAAGTCACTAGCCTTGCA | ||
| NM_020765.2:c.15234-319_15234-300delinsTTTAAGTCACTAGCCTTGCA | NP_065816.2:n.15234-319_15234-300delinsTTTAAGTCACTAGCCTTGCA | |
| XM_011541108.1:c.15387-319_15387-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539410.1:n.15387-319_15387-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541109.1:c.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539411.1:n.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541110.1:c.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539412.1:n.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541111.1:c.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539413.1:n.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541112.1:c.15372-319_15372-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539414.1:n.15372-319_15372-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541113.1:c.15369-319_15369-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539415.1:n.15369-319_15369-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541114.1:c.15369-319_15369-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539416.1:n.15369-319_15369-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541115.1:c.15363-319_15363-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539417.1:n.15363-319_15363-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541116.1:c.15354-319_15354-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539418.1:n.15354-319_15354-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541117.1:c.15303-319_15303-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539419.1:n.15303-319_15303-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541118.1:c.15300-319_15300-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539420.1:n.15300-319_15300-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541119.1:c.15267-319_15267-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539421.1:n.15267-319_15267-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541120.1:c.15264-319_15264-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539422.1:n.15264-319_15264-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541121.1:c.15231-319_15231-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539423.1:n.15231-319_15231-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541108.3:c.15501-319_15501-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539410.2:n.15501-319_15501-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541109.3:c.15498-319_15498-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539411.2:n.15498-319_15498-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541110.3:c.15498-319_15498-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539412.2:n.15498-319_15498-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541111.3:c.15498-319_15498-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539413.2:n.15498-319_15498-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541112.3:c.15486-319_15486-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539414.2:n.15486-319_15486-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541113.3:c.15483-319_15483-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539415.2:n.15483-319_15483-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541114.3:c.15483-319_15483-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539416.2:n.15483-319_15483-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541115.3:c.15477-319_15477-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539417.2:n.15477-319_15477-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541116.3:c.15468-319_15468-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539418.2:n.15468-319_15468-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541117.3:c.15417-319_15417-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539419.2:n.15417-319_15417-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541118.3:c.15414-319_15414-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539420.2:n.15414-319_15414-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541119.3:c.15381-319_15381-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539421.2:n.15381-319_15381-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541120.3:c.15378-319_15378-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539422.2:n.15378-319_15378-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_011541121.3:c.15345-319_15345-300delinsTTTAAGTCACTAGCCTTGCA | XP_011539423.2:n.15345-319_15345-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000822.2:c.15480-319_15480-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856311.2:n.15480-319_15480-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000823.2:c.15453-319_15453-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856312.2:n.15453-319_15453-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000824.2:c.15399-319_15399-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856313.2:n.15399-319_15399-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000825.2:c.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856314.2:n.15384-319_15384-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000826.2:c.15381-319_15381-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856315.2:n.15381-319_15381-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000827.2:c.15366-319_15366-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856316.2:n.15366-319_15366-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000828.2:c.15342-319_15342-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856317.2:n.15342-319_15342-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000829.2:c.15294-319_15294-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856318.2:n.15294-319_15294-300delinsTTTAAGTCACTAGCCTTGC... | |
| XM_017000830.2:c.15243-319_15243-300delinsTTTAAGTCACTAGCCTTGCA | XP_016856319.2:n.15243-319_15243-300delinsTTTAAGTCACTAGCCTTGC... | |
| NM_020765.3:c.15234-319_15234-300delinsTTTAAGTCACTAGCCTTGCA MANE Select | NP_065816.2:n.15234-319_15234-300delinsTTTAAGTCACTAGCCTTGCA |