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.37025876_37025877insTG , CM000665.2:g.37025876_37025877insTG | GRCh38 |
| NC_000003.11:g.37067367_37067368insTG , CM000665.1:g.37067367_37067368insTG | GRCh37 |
| NC_000003.10:g.37042371_37042372insTG | NCBI36 |
| NG_007109.2:g.37527_37528insTG , LRG_216:g.37527_37528insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1278_1279insTG | ENSP00000416476.2:p.Gln427CysfsTer? | |
| ENST00000429117.6:c.984_985insTG | ENSP00000407019.2:p.Gln329CysfsTer? | |
| ENST00000450420.6:c.1278_1279insTG | ENSP00000393006.2:p.Gln427CysfsTer? | |
| ENST00000456676.7:c.1278_1279insTG | ENSP00000416687.3:p.Gln427CysfsTer? | |
| ENST00000458009.6:c.*179_*180insTG | ENSP00000411066.2:n.*179_*180insTG | |
| ENST00000492474.6:c.555_556insTG | ENSP00000518393.1:p.Gln186CysfsTer? | |
| ENST00000616768.6:c.1278_1279insTG | ENSP00000480669.3:p.Gln427CysfsTer? | |
| ENST00000673673.2:c.1278_1279insTG | ENSP00000500979.2:p.Gln427CysfsTer? | |
| ENST00000231790.8:c.1278_1279insTG MANE Select | ENSP00000231790.3:p.Gln427CysfsTer? | |
| ENST00000413212.2:c.*196_*197insTG | ENSP00000400844.2:n.*196_*197insTG | |
| ENST00000432299.6:c.*1110_*1111insTG | ENSP00000416783.1:n.*1110_*1111insTG | |
| ENST00000441265.6:c.555_556insTG | ENSP00000398392.2:p.Gln186CysfsTer? | |
| ENST00000442249.6:n.1086_1087insTG | ||
| ENST00000447829.6:c.*389_*390insTG | ENSP00000399329.2:n.*389_*390insTG | |
| ENST00000539477.6:c.555_556insTG | ENSP00000443665.1:p.Gln186CysfsTer? | |
| ENST00000616768.5:c.315_316insTG | ENSP00000480669.2:p.Gln106CysfsTer? | |
| ENST00000673673.1:c.1231_1232insTG | ||
| ENST00000673713.1:n.1402_1403insTG | ||
| ENST00000673715.1:c.1278_1279insTG | ENSP00000501301.1:p.Gln427CysfsTer? | |
| ENST00000673889.1:n.660_661insTG | ||
| ENST00000673897.1:c.*1070_*1071insTG | ENSP00000501109.1:n.*1070_*1071insTG | |
| ENST00000673899.1:c.678-2908_678-2907insTG | ENSP00000501030.1:n.678-2908_678-2907insTG | |
| ENST00000673947.1:c.*1418_*1419insTG | ENSP00000501304.1:n.*1418_*1419insTG | |
| ENST00000673972.1:c.*1156_*1157insTG | ENSP00000501281.1:n.*1156_*1157insTG | |
| ENST00000673990.1:n.1169_1170insTG | ||
| ENST00000674019.1:c.555_556insTG | ENSP00000501081.1:p.Gln186CysfsTer? | |
| ENST00000674107.1:n.1126_1127insTG | ||
| ENST00000674111.1:c.1278_1279insTG | ENSP00000501162.1:p.Gln427CysfsTer? | |
| ENST00000231790.6:c.1278_1279insTG | ENSP00000231790.2:p.Gln427CysfsTer? | |
| ENST00000413212.1:c.353_354insTG | ||
| ENST00000435176.5:c.984_985insTG | ENSP00000402564.1:p.Gln329CysfsTer? | |
| ENST00000447829.5:c.565_566insTG | ||
| ENST00000455445.6:c.555_556insTG | ENSP00000398272.2:p.Gln186CysfsTer? | |
| ENST00000456676.6:c.1253_1254insTG | ||
| ENST00000458009.5:c.465_466insTG | ||
| ENST00000458205.6:c.555_556insTG | ENSP00000402667.2:p.Gln186CysfsTer? | |
| ENST00000536378.5:c.555_556insTG | ENSP00000444286.2:p.Gln186CysfsTer? | |
| ENST00000539477.5:c.555_556insTG | ENSP00000443665.1:p.Gln186CysfsTer? | |
| ENST00000616768.4:c.46_47insTG | ||
| NM_000249.3:c.1278_1279insTG , LRG_216t1:c.1278_1279insTG | NP_000240.1:p.Gln427CysfsTer? | |
| NM_001167617.1:c.984_985insTG | NP_001161089.1:p.Gln329CysfsTer? | |
| NM_001167618.1:c.555_556insTG | NP_001161090.1:p.Gln186CysfsTer? | |
| NM_001167619.1:c.555_556insTG | NP_001161091.1:p.Gln186CysfsTer? | |
| NM_001258271.1:c.1278_1279insTG | NP_001245200.1:p.Gln427CysfsTer? | |
| NM_001258273.1:c.555_556insTG | NP_001245202.1:p.Gln186CysfsTer? | |
| NM_001258274.1:c.555_556insTG | NP_001245203.1:p.Gln186CysfsTer? | |
| XM_005265161.1:c.1071_1072insTG | XP_005265218.1:p.Gln358CysfsTer? | |
| XM_005265163.1:c.555_556insTG | XP_005265220.1:p.Gln186CysfsTer? | |
| XM_005265164.1:c.555_556insTG | XP_005265221.1:p.Gln186CysfsTer? | |
| XM_005265166.1:c.255_256insTG | XP_005265223.1:p.Gln86CysfsTer? | |
| XM_011533727.1:c.204_205insTG | XP_011532029.1:p.Gln69CysfsTer? | |
| NM_001167617.2:c.984_985insTG | NP_001161089.1:p.Gln329CysfsTer? | |
| NM_001167618.2:c.555_556insTG | NP_001161090.1:p.Gln186CysfsTer? | |
| NM_001167619.2:c.555_556insTG | NP_001161091.1:p.Gln186CysfsTer? | |
| NM_001258274.2:c.555_556insTG | NP_001245203.1:p.Gln186CysfsTer? | |
| NM_001354615.1:c.555_556insTG | NP_001341544.1:p.Gln186CysfsTer? | |
| NM_001354616.1:c.555_556insTG | NP_001341545.1:p.Gln186CysfsTer? | |
| NM_001354617.1:c.555_556insTG | NP_001341546.1:p.Gln186CysfsTer? | |
| NM_001354618.1:c.555_556insTG | NP_001341547.1:p.Gln186CysfsTer? | |
| NM_001354619.1:c.555_556insTG | NP_001341548.1:p.Gln186CysfsTer? | |
| NM_001354620.1:c.984_985insTG | NP_001341549.1:p.Gln329CysfsTer? | |
| NM_001354621.1:c.255_256insTG | NP_001341550.1:p.Gln86CysfsTer? | |
| NM_001354622.1:c.255_256insTG | NP_001341551.1:p.Gln86CysfsTer? | |
| NM_001354623.1:c.255_256insTG | NP_001341552.1:p.Gln86CysfsTer? | |
| NM_001354624.1:c.204_205insTG | NP_001341553.1:p.Gln69CysfsTer? | |
| NM_001354625.1:c.204_205insTG | NP_001341554.1:p.Gln69CysfsTer? | |
| NM_001354626.1:c.204_205insTG | NP_001341555.1:p.Gln69CysfsTer? | |
| NM_001354627.1:c.204_205insTG | NP_001341556.1:p.Gln69CysfsTer? | |
| NM_001354628.1:c.1278_1279insTG | NP_001341557.1:p.Gln427CysfsTer? | |
| NM_001354629.1:c.1179_1180insTG | NP_001341558.1:p.Gln394CysfsTer? | |
| NM_001354630.1:c.1278_1279insTG | NP_001341559.1:p.Gln427CysfsTer? | |
| XM_005265161.2:c.1071_1072insTG | XP_005265218.1:p.Gln358CysfsTer? | |
| XM_017006450.2:c.255_256insTG | XP_016861939.1:p.Gln86CysfsTer? | |
| NM_000249.4:c.1278_1279insTG MANE Select | NP_000240.1:p.Gln427CysfsTer? | |
| NM_001167617.3:c.984_985insTG | NP_001161089.1:p.Gln329CysfsTer? | |
| NM_001167618.3:c.555_556insTG | NP_001161090.1:p.Gln186CysfsTer? | |
| NM_001167619.3:c.555_556insTG | NP_001161091.1:p.Gln186CysfsTer? | |
| NM_001258271.2:c.1278_1279insTG | NP_001245200.1:p.Gln427CysfsTer? | |
| NM_001258273.2:c.555_556insTG | NP_001245202.1:p.Gln186CysfsTer? | |
| NM_001258274.3:c.555_556insTG | NP_001245203.1:p.Gln186CysfsTer? | |
| NM_001354615.2:c.555_556insTG | NP_001341544.1:p.Gln186CysfsTer? | |
| NM_001354616.2:c.555_556insTG | NP_001341545.1:p.Gln186CysfsTer? | |
| NM_001354617.2:c.555_556insTG | NP_001341546.1:p.Gln186CysfsTer? | |
| NM_001354618.2:c.555_556insTG | NP_001341547.1:p.Gln186CysfsTer? | |
| NM_001354619.2:c.555_556insTG | NP_001341548.1:p.Gln186CysfsTer? | |
| NM_001354620.2:c.984_985insTG | NP_001341549.1:p.Gln329CysfsTer? | |
| NM_001354621.2:c.255_256insTG | NP_001341550.1:p.Gln86CysfsTer? | |
| NM_001354622.2:c.255_256insTG | NP_001341551.1:p.Gln86CysfsTer? | |
| NM_001354623.2:c.255_256insTG | NP_001341552.1:p.Gln86CysfsTer? | |
| NM_001354624.2:c.204_205insTG | NP_001341553.1:p.Gln69CysfsTer? | |
| NM_001354625.2:c.204_205insTG | NP_001341554.1:p.Gln69CysfsTer? | |
| NM_001354626.2:c.204_205insTG | NP_001341555.1:p.Gln69CysfsTer? | |
| NM_001354627.2:c.204_205insTG | NP_001341556.1:p.Gln69CysfsTer? | |
| NM_001354628.2:c.1278_1279insTG | NP_001341557.1:p.Gln427CysfsTer? | |
| NM_001354629.2:c.1179_1180insTG | NP_001341558.1:p.Gln394CysfsTer? | |
| NM_001354630.2:c.1278_1279insTG | NP_001341559.1:p.Gln427CysfsTer? |