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_000005.10:g.173932316_173932317insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT , CM000667.2:g.173932316_173932317insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | GRCh38 |
| NC_000005.9:g.173359319_173359320insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT , CM000667.1:g.173359319_173359320insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | GRCh37 |
| NC_000005.8:g.173291925_173291926insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265085.10:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT MANE Select | ENSP00000265085.5:n.1208-134_1208-133insGTCATCGAGATCATCCGTCAC... | |
| ENST00000657000.1:c.-20-12651_-20-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ENSP00000499433.1:n.-20-12651_-20-12650insGTCATCGAGATCATCCGTC... | |
| ENST00000265085.9:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ENSP00000265085.5:n.1208-134_1208-133insGTCATCGAGATCATCCGTCAC... | |
| ENST00000334035.9:c.1208-10710_1208-10709insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ENSP00000334533.5:n.1208-10710_1208-10709insGTCATCGAGATCATCCG... | |
| ENST00000517880.1:c.62-12651_62-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ENSP00000427990.1:n.62-12651_62-12650insGTCATCGAGATCATCCGTCAC... | |
| ENST00000519152.5:c.265-134_265-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ||
| ENST00000519467.1:n.40-10710_40-10709insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ||
| ENST00000519835.5:c.1208-12651_1208-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ENSP00000429048.1:n.1208-12651_1208-12650insGTCATCGAGATCATCCG... | |
| ENST00000520867.5:c.1208-12651_1208-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ENSP00000429092.1:n.1208-12651_1208-12650insGTCATCGAGATCATCCG... | |
| ENST00000522336.5:c.62-134_62-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | ENSP00000430345.1:n.62-134_62-133insGTCATCGAGATCATCCGTCACGAAG... | |
| NM_001308189.1:c.1208-10710_1208-10709insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295118.1:n.1208-10710_1208-10709insGTCATCGAGATCATCCGTCA... | |
| NM_001308191.1:c.1208-12651_1208-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295120.1:n.1208-12651_1208-12650insGTCATCGAGATCATCCGTCA... | |
| NM_001308192.1:c.62-134_62-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295121.1:n.62-134_62-133insGTCATCGAGATCATCCGTCACGAAGATG... | |
| NM_001308193.1:c.62-12651_62-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295122.1:n.62-12651_62-12650insGTCATCGAGATCATCCGTCACGAA... | |
| NM_030627.2:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_085130.2:n.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGAT... | |
| NM_030627.3:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_085130.2:n.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGAT... | |
| XM_005265994.1:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | XP_005266051.1:n.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAA... | |
| XM_011534660.1:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | XP_011532962.1:n.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAA... | |
| XM_011534661.1:c.1208-10568_1208-10567insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | XP_011532963.1:n.1208-10568_1208-10567insGTCATCGAGATCATCCGTCA... | |
| XM_011534660.2:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | XP_011532962.1:n.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAA... | |
| XM_011534661.2:c.1208-10568_1208-10567insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | XP_011532963.1:n.1208-10568_1208-10567insGTCATCGAGATCATCCGTCA... | |
| NM_030627.4:c.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT MANE Select | NP_085130.2:n.1208-134_1208-133insGTCATCGAGATCATCCGTCACGAAGAT... | |
| NM_001308189.2:c.1208-10710_1208-10709insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295118.1:n.1208-10710_1208-10709insGTCATCGAGATCATCCGTCA... | |
| NM_001308191.2:c.1208-12651_1208-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295120.1:n.1208-12651_1208-12650insGTCATCGAGATCATCCGTCA... | |
| NM_001308192.2:c.62-134_62-133insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295121.1:n.62-134_62-133insGTCATCGAGATCATCCGTCACGAAGATG... | |
| NM_001308193.2:c.62-12651_62-12650insGTCATCGAGATCATCCGTCACGAAGATGAGCCAAAAGCCGAATTAATGGCACGTTTCAACTTAAGCGATGCACAAGCGGAAGCCATTTTGAACTTGCGCTTGCGTCATTTGGCGAAACTGGAAGAACAT | NP_001295122.1:n.62-12651_62-12650insGTCATCGAGATCATCCGTCACGAA... |