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_000003.12:g.37000978_37000979insAT , CM000665.2:g.37000978_37000979insAT | GRCh38 |
| NC_000003.11:g.37042469_37042470insAT , CM000665.1:g.37042469_37042470insAT | GRCh37 |
| NC_000003.10:g.37017473_37017474insAT | NCBI36 |
| NG_007109.2:g.12629_12630insAT , LRG_216:g.12629_12630insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.231_232insAT | ENSP00000416476.2:p.Glu78MetfsTer15 | |
| ENST00000429117.6:c.-59_-58insAT | ENSP00000407019.2:n.-59_-58insAT | |
| ENST00000450420.6:c.231_232insAT | ENSP00000393006.2:p.Glu78MetfsTer15 | |
| ENST00000456676.7:c.231_232insAT | ENSP00000416687.3:p.Glu78MetfsTer15 | |
| ENST00000458009.6:c.231_232insAT | ENSP00000411066.2:p.Glu78MetfsTer15 | |
| ENST00000492474.6:c.-493_-492insAT | ENSP00000518393.1:n.-493_-492insAT | |
| ENST00000616768.6:c.231_232insAT | ENSP00000480669.3:p.Glu78MetfsTer15 | |
| ENST00000673673.2:c.231_232insAT | ENSP00000500979.2:p.Glu78MetfsTer15 | |
| ENST00000231790.8:c.231_232insAT MANE Select | ENSP00000231790.3:p.Glu78MetfsTer15 | |
| ENST00000413212.2:c.-493_-492insAT | ENSP00000400844.2:n.-493_-492insAT | |
| ENST00000432299.6:c.*311_*312insAT | ENSP00000416783.1:n.*311_*312insAT | |
| ENST00000441265.6:c.-493_-492insAT | ENSP00000398392.2:n.-493_-492insAT | |
| ENST00000442249.6:n.246_247insAT | ||
| ENST00000447829.6:c.-59_-58insAT | ENSP00000399329.2:n.-59_-58insAT | |
| ENST00000539477.6:c.-401_-400insAT | ENSP00000443665.1:n.-401_-400insAT | |
| ENST00000673673.1:c.184_185insAT | ||
| ENST00000673713.1:n.262_263insAT | ||
| ENST00000673715.1:c.231_232insAT | ENSP00000501301.1:p.Glu78MetfsTer15 | |
| ENST00000673897.1:c.*23_*24insAT | ENSP00000501109.1:n.*23_*24insAT | |
| ENST00000673899.1:c.231_232insAT | ENSP00000501030.1:p.Glu78MetfsTer15 | |
| ENST00000673947.1:c.*371_*372insAT | ENSP00000501304.1:n.*371_*372insAT | |
| ENST00000673972.1:c.*109_*110insAT | ENSP00000501281.1:n.*109_*110insAT | |
| ENST00000673990.1:n.216_217insAT | ||
| ENST00000674019.1:c.-493_-492insAT | ENSP00000501081.1:n.-493_-492insAT | |
| ENST00000674107.1:n.173_174insAT | ||
| ENST00000674111.1:c.231_232insAT | ENSP00000501162.1:p.Glu78MetfsTer15 | |
| ENST00000231790.6:c.231_232insAT | ENSP00000231790.2:p.Glu78MetfsTer15 | |
| ENST00000429117.5:c.-59_-58insAT | ENSP00000407019.1:n.-59_-58insAT | |
| ENST00000432299.5:c.*311_*312insAT | ENSP00000416783.1:n.*311_*312insAT | |
| ENST00000435176.5:c.-59_-58insAT | ENSP00000402564.1:n.-59_-58insAT | |
| ENST00000441265.5:c.-401_-400insAT | ENSP00000398392.1:n.-401_-400insAT | |
| ENST00000442249.5:c.*23_*24insAT | ENSP00000387511.1:n.*23_*24insAT | |
| ENST00000454028.5:c.*109_*110insAT | ENSP00000392649.1:n.*109_*110insAT | |
| ENST00000455445.6:c.-493_-492insAT | ENSP00000398272.2:n.-493_-492insAT | |
| ENST00000456676.6:c.206_207insAT | ||
| ENST00000457004.5:c.*86-3423_*86-3422insAT | ENSP00000407773.1:n.*86-3423_*86-3422insAT | |
| ENST00000458205.6:c.-493_-492insAT | ENSP00000402667.2:n.-493_-492insAT | |
| ENST00000466900.5:n.158_159insAT | ||
| ENST00000476172.5:n.353_354insAT | ||
| ENST00000485889.1:n.235_236insAT | ||
| ENST00000492474.5:n.254_255insAT | ||
| ENST00000536378.5:c.-493_-492insAT | ENSP00000444286.2:n.-493_-492insAT | |
| ENST00000539477.5:c.-401_-400insAT | ENSP00000443665.1:n.-401_-400insAT | |
| NM_000249.3:c.231_232insAT , LRG_216t1:c.231_232insAT | NP_000240.1:p.Glu78MetfsTer15 | |
| NM_001167617.1:c.-59_-58insAT | NP_001161089.1:n.-59_-58insAT | |
| NM_001167618.1:c.-493_-492insAT | NP_001161090.1:n.-493_-492insAT | |
| NM_001167619.1:c.-401_-400insAT | NP_001161091.1:n.-401_-400insAT | |
| NM_001258271.1:c.231_232insAT | NP_001245200.1:p.Glu78MetfsTer15 | |
| NM_001258273.1:c.-493_-492insAT | NP_001245202.1:n.-493_-492insAT | |
| NM_001258274.1:c.-493_-492insAT | NP_001245203.1:n.-493_-492insAT | |
| XM_005265161.1:c.231_232insAT | XP_005265218.1:p.Glu78MetfsTer15 | |
| XM_005265163.1:c.-493_-492insAT | XP_005265220.1:n.-493_-492insAT | |
| XM_005265164.1:c.-493_-492insAT | XP_005265221.1:n.-493_-492insAT | |
| XM_005265166.1:c.-699_-698insAT | XP_005265223.1:n.-699_-698insAT | |
| XM_011533727.1:c.-596_-595insAT | XP_011532029.1:n.-596_-595insAT | |
| NM_001167617.2:c.-59_-58insAT | NP_001161089.1:n.-59_-58insAT | |
| NM_001167618.2:c.-493_-492insAT | NP_001161090.1:n.-493_-492insAT | |
| NM_001167619.2:c.-401_-400insAT | NP_001161091.1:n.-401_-400insAT | |
| NM_001258274.2:c.-493_-492insAT | NP_001245203.1:n.-493_-492insAT | |
| NM_001354615.1:c.-396_-395insAT | NP_001341544.1:n.-396_-395insAT | |
| NM_001354616.1:c.-401_-400insAT | NP_001341545.1:n.-401_-400insAT | |
| NM_001354617.1:c.-493_-492insAT | NP_001341546.1:n.-493_-492insAT | |
| NM_001354618.1:c.-493_-492insAT | NP_001341547.1:n.-493_-492insAT | |
| NM_001354619.1:c.-493_-492insAT | NP_001341548.1:n.-493_-492insAT | |
| NM_001354620.1:c.-59_-58insAT | NP_001341549.1:n.-59_-58insAT | |
| NM_001354621.1:c.-586_-585insAT | NP_001341550.1:n.-586_-585insAT | |
| NM_001354622.1:c.-699_-698insAT | NP_001341551.1:n.-699_-698insAT | |
| NM_001354623.1:c.-699_-698insAT | NP_001341552.1:n.-699_-698insAT | |
| NM_001354624.1:c.-596_-595insAT | NP_001341553.1:n.-596_-595insAT | |
| NM_001354625.1:c.-499_-498insAT | NP_001341554.1:n.-499_-498insAT | |
| NM_001354626.1:c.-596_-595insAT | NP_001341555.1:n.-596_-595insAT | |
| NM_001354627.1:c.-596_-595insAT | NP_001341556.1:n.-596_-595insAT | |
| NM_001354628.1:c.231_232insAT | NP_001341557.1:p.Glu78MetfsTer15 | |
| NM_001354629.1:c.208-3423_208-3422insAT | NP_001341558.1:n.208-3423_208-3422insAT | |
| NM_001354630.1:c.231_232insAT | NP_001341559.1:p.Glu78MetfsTer15 | |
| XM_005265161.2:c.231_232insAT | XP_005265218.1:p.Glu78MetfsTer15 | |
| XM_017006450.2:c.-586_-585insAT | XP_016861939.1:n.-586_-585insAT | |
| NM_000249.4:c.231_232insAT MANE Select | NP_000240.1:p.Glu78MetfsTer15 | |
| NM_001167617.3:c.-59_-58insAT | NP_001161089.1:n.-59_-58insAT | |
| NM_001167618.3:c.-493_-492insAT | NP_001161090.1:n.-493_-492insAT | |
| NM_001167619.3:c.-401_-400insAT | NP_001161091.1:n.-401_-400insAT | |
| NM_001258271.2:c.231_232insAT | NP_001245200.1:p.Glu78MetfsTer15 | |
| NM_001258273.2:c.-493_-492insAT | NP_001245202.1:n.-493_-492insAT | |
| NM_001258274.3:c.-493_-492insAT | NP_001245203.1:n.-493_-492insAT | |
| NM_001354615.2:c.-396_-395insAT | NP_001341544.1:n.-396_-395insAT | |
| NM_001354616.2:c.-401_-400insAT | NP_001341545.1:n.-401_-400insAT | |
| NM_001354617.2:c.-493_-492insAT | NP_001341546.1:n.-493_-492insAT | |
| NM_001354618.2:c.-493_-492insAT | NP_001341547.1:n.-493_-492insAT | |
| NM_001354619.2:c.-493_-492insAT | NP_001341548.1:n.-493_-492insAT | |
| NM_001354620.2:c.-59_-58insAT | NP_001341549.1:n.-59_-58insAT | |
| NM_001354621.2:c.-586_-585insAT | NP_001341550.1:n.-586_-585insAT | |
| NM_001354622.2:c.-699_-698insAT | NP_001341551.1:n.-699_-698insAT | |
| NM_001354623.2:c.-699_-698insAT | NP_001341552.1:n.-699_-698insAT | |
| NM_001354624.2:c.-596_-595insAT | NP_001341553.1:n.-596_-595insAT | |
| NM_001354625.2:c.-499_-498insAT | NP_001341554.1:n.-499_-498insAT | |
| NM_001354626.2:c.-596_-595insAT | NP_001341555.1:n.-596_-595insAT | |
| NM_001354627.2:c.-596_-595insAT | NP_001341556.1:n.-596_-595insAT | |
| NM_001354628.2:c.231_232insAT | NP_001341557.1:p.Glu78MetfsTer15 | |
| NM_001354629.2:c.208-3423_208-3422insAT | NP_001341558.1:n.208-3423_208-3422insAT | |
| NM_001354630.2:c.231_232insAT | NP_001341559.1:p.Glu78MetfsTer15 |