SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37012900_37012906delinsATTTTCT , CM000665.2:g.37012900_37012906delinsATTTTCT | GRCh38 |
| NC_000003.11:g.37054391_37054397delinsATTTTCT , CM000665.1:g.37054391_37054397delinsATTTTCT | GRCh37 |
| NC_000003.10:g.37029395_37029401delinsATTTTCT | NCBI36 |
| NG_007109.2:g.24551_24557delinsATTTTCT , LRG_216:g.24551_24557delinsATTTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.677+801_677+807delinsATTTTCT | ENSP00000416476.2:n.677+801_677+807delinsATTTTCT | |
| ENST00000429117.6:c.383+801_383+807delinsATTTTCT | ENSP00000407019.2:n.383+801_383+807delinsATTTTCT | |
| ENST00000450420.6:c.677+801_677+807delinsATTTTCT | ENSP00000393006.2:n.677+801_677+807delinsATTTTCT | |
| ENST00000456676.7:c.677+801_677+807delinsATTTTCT | ENSP00000416687.3:n.677+801_677+807delinsATTTTCT | |
| ENST00000458009.6:c.677+801_677+807delinsATTTTCT | ENSP00000411066.2:n.677+801_677+807delinsATTTTCT | |
| ENST00000492474.6:c.-47+801_-47+807delinsATTTTCT | ENSP00000518393.1:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000616768.6:c.677+801_677+807delinsATTTTCT | ENSP00000480669.3:n.677+801_677+807delinsATTTTCT | |
| ENST00000673673.2:c.677+801_677+807delinsATTTTCT | ENSP00000500979.2:n.677+801_677+807delinsATTTTCT | |
| ENST00000231790.8:c.677+801_677+807delinsATTTTCT MANE Select | ENSP00000231790.3:n.677+801_677+807delinsATTTTCT | |
| ENST00000413212.2:c.-47+801_-47+807delinsATTTTCT | ENSP00000400844.2:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000432299.6:c.*757+801_*757+807delinsATTTTCT | ENSP00000416783.1:n.*757+801_*757+807delinsATTTTCT | |
| ENST00000441265.6:c.-47+801_-47+807delinsATTTTCT | ENSP00000398392.2:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000442249.6:n.692+801_692+807delinsATTTTCT | ||
| ENST00000447829.6:c.314+801_314+807delinsATTTTCT | ENSP00000399329.2:n.314+801_314+807delinsATTTTCT | |
| ENST00000539477.6:c.-47+801_-47+807delinsATTTTCT | ENSP00000443665.1:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000673673.1:c.630+801_630+807delinsATTTTCT | ||
| ENST00000673713.1:n.708+801_708+807delinsATTTTCT | ||
| ENST00000673715.1:c.677+801_677+807delinsATTTTCT | ENSP00000501301.1:n.677+801_677+807delinsATTTTCT | |
| ENST00000673897.1:c.*469+801_*469+807delinsATTTTCT | ENSP00000501109.1:n.*469+801_*469+807delinsATTTTCT | |
| ENST00000673899.1:c.677+801_677+807delinsATTTTCT | ENSP00000501030.1:n.677+801_677+807delinsATTTTCT | |
| ENST00000673947.1:c.*817+801_*817+807delinsATTTTCT | ENSP00000501304.1:n.*817+801_*817+807delinsATTTTCT | |
| ENST00000673972.1:c.*555+801_*555+807delinsATTTTCT | ENSP00000501281.1:n.*555+801_*555+807delinsATTTTCT | |
| ENST00000673990.1:n.662+801_662+807delinsATTTTCT | ||
| ENST00000674019.1:c.-47+801_-47+807delinsATTTTCT | ENSP00000501081.1:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000674107.1:n.619+801_619+807delinsATTTTCT | ||
| ENST00000674111.1:c.677+801_677+807delinsATTTTCT | ENSP00000501162.1:n.677+801_677+807delinsATTTTCT | |
| ENST00000231790.6:c.677+801_677+807delinsATTTTCT | ENSP00000231790.2:n.677+801_677+807delinsATTTTCT | |
| ENST00000435176.5:c.383+801_383+807delinsATTTTCT | ENSP00000402564.1:n.383+801_383+807delinsATTTTCT | |
| ENST00000441265.5:c.-47+801_-47+807delinsATTTTCT | ENSP00000398392.1:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000447829.5:c.58+801_58+807delinsATTTTCT | ||
| ENST00000455445.6:c.-47+801_-47+807delinsATTTTCT | ENSP00000398272.2:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000456676.6:c.652+801_652+807delinsATTTTCT | ||
| ENST00000457004.5:c.*456+801_*456+807delinsATTTTCT | ENSP00000407773.1:n.*456+801_*456+807delinsATTTTCT | |
| ENST00000458009.5:c.18+801_18+807delinsATTTTCT | ||
| ENST00000458205.6:c.-47+801_-47+807delinsATTTTCT | ENSP00000402667.2:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000536378.5:c.-47+801_-47+807delinsATTTTCT | ENSP00000444286.2:n.-47+801_-47+807delinsATTTTCT | |
| ENST00000539477.5:c.-47+801_-47+807delinsATTTTCT | ENSP00000443665.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_000249.3:c.677+801_677+807delinsATTTTCT , LRG_216t1:c.677+801_677+807delinsATTTTCT | NP_000240.1:n.677+801_677+807delinsATTTTCT | |
| NM_001167617.1:c.383+801_383+807delinsATTTTCT | NP_001161089.1:n.383+801_383+807delinsATTTTCT | |
| NM_001167618.1:c.-47+801_-47+807delinsATTTTCT | NP_001161090.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001167619.1:c.-47+801_-47+807delinsATTTTCT | NP_001161091.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001258271.1:c.677+801_677+807delinsATTTTCT | NP_001245200.1:n.677+801_677+807delinsATTTTCT | |
| NM_001258273.1:c.-47+801_-47+807delinsATTTTCT | NP_001245202.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001258274.1:c.-47+801_-47+807delinsATTTTCT | NP_001245203.1:n.-47+801_-47+807delinsATTTTCT | |
| XM_005265161.1:c.677+801_677+807delinsATTTTCT | XP_005265218.1:n.677+801_677+807delinsATTTTCT | |
| XM_005265163.1:c.-47+801_-47+807delinsATTTTCT | XP_005265220.1:n.-47+801_-47+807delinsATTTTCT | |
| XM_005265164.1:c.-47+801_-47+807delinsATTTTCT | XP_005265221.1:n.-47+801_-47+807delinsATTTTCT | |
| XM_005265166.1:c.-253+801_-253+807delinsATTTTCT | XP_005265223.1:n.-253+801_-253+807delinsATTTTCT | |
| XM_011533727.1:c.-150+801_-150+807delinsATTTTCT | XP_011532029.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001167617.2:c.383+801_383+807delinsATTTTCT | NP_001161089.1:n.383+801_383+807delinsATTTTCT | |
| NM_001167618.2:c.-47+801_-47+807delinsATTTTCT | NP_001161090.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001167619.2:c.-47+801_-47+807delinsATTTTCT | NP_001161091.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001258274.2:c.-47+801_-47+807delinsATTTTCT | NP_001245203.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354615.1:c.-47+801_-47+807delinsATTTTCT | NP_001341544.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354616.1:c.-47+801_-47+807delinsATTTTCT | NP_001341545.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354617.1:c.-47+801_-47+807delinsATTTTCT | NP_001341546.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354618.1:c.-47+801_-47+807delinsATTTTCT | NP_001341547.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354619.1:c.-47+801_-47+807delinsATTTTCT | NP_001341548.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354620.1:c.383+801_383+807delinsATTTTCT | NP_001341549.1:n.383+801_383+807delinsATTTTCT | |
| NM_001354621.1:c.-140+801_-140+807delinsATTTTCT | NP_001341550.1:n.-140+801_-140+807delinsATTTTCT | |
| NM_001354622.1:c.-253+801_-253+807delinsATTTTCT | NP_001341551.1:n.-253+801_-253+807delinsATTTTCT | |
| NM_001354623.1:c.-253+801_-253+807delinsATTTTCT | NP_001341552.1:n.-253+801_-253+807delinsATTTTCT | |
| NM_001354624.1:c.-150+801_-150+807delinsATTTTCT | NP_001341553.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354625.1:c.-150+801_-150+807delinsATTTTCT | NP_001341554.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354626.1:c.-150+801_-150+807delinsATTTTCT | NP_001341555.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354627.1:c.-150+801_-150+807delinsATTTTCT | NP_001341556.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354628.1:c.677+801_677+807delinsATTTTCT | NP_001341557.1:n.677+801_677+807delinsATTTTCT | |
| NM_001354629.1:c.578+801_578+807delinsATTTTCT | NP_001341558.1:n.578+801_578+807delinsATTTTCT | |
| NM_001354630.1:c.677+801_677+807delinsATTTTCT | NP_001341559.1:n.677+801_677+807delinsATTTTCT | |
| XM_005265161.2:c.677+801_677+807delinsATTTTCT | XP_005265218.1:n.677+801_677+807delinsATTTTCT | |
| XM_017006450.2:c.-140+801_-140+807delinsATTTTCT | XP_016861939.1:n.-140+801_-140+807delinsATTTTCT | |
| NM_000249.4:c.677+801_677+807delinsATTTTCT MANE Select | NP_000240.1:n.677+801_677+807delinsATTTTCT | |
| NM_001167617.3:c.383+801_383+807delinsATTTTCT | NP_001161089.1:n.383+801_383+807delinsATTTTCT | |
| NM_001167618.3:c.-47+801_-47+807delinsATTTTCT | NP_001161090.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001167619.3:c.-47+801_-47+807delinsATTTTCT | NP_001161091.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001258271.2:c.677+801_677+807delinsATTTTCT | NP_001245200.1:n.677+801_677+807delinsATTTTCT | |
| NM_001258273.2:c.-47+801_-47+807delinsATTTTCT | NP_001245202.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001258274.3:c.-47+801_-47+807delinsATTTTCT | NP_001245203.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354615.2:c.-47+801_-47+807delinsATTTTCT | NP_001341544.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354616.2:c.-47+801_-47+807delinsATTTTCT | NP_001341545.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354617.2:c.-47+801_-47+807delinsATTTTCT | NP_001341546.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354618.2:c.-47+801_-47+807delinsATTTTCT | NP_001341547.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354619.2:c.-47+801_-47+807delinsATTTTCT | NP_001341548.1:n.-47+801_-47+807delinsATTTTCT | |
| NM_001354620.2:c.383+801_383+807delinsATTTTCT | NP_001341549.1:n.383+801_383+807delinsATTTTCT | |
| NM_001354621.2:c.-140+801_-140+807delinsATTTTCT | NP_001341550.1:n.-140+801_-140+807delinsATTTTCT | |
| NM_001354622.2:c.-253+801_-253+807delinsATTTTCT | NP_001341551.1:n.-253+801_-253+807delinsATTTTCT | |
| NM_001354623.2:c.-253+801_-253+807delinsATTTTCT | NP_001341552.1:n.-253+801_-253+807delinsATTTTCT | |
| NM_001354624.2:c.-150+801_-150+807delinsATTTTCT | NP_001341553.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354625.2:c.-150+801_-150+807delinsATTTTCT | NP_001341554.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354626.2:c.-150+801_-150+807delinsATTTTCT | NP_001341555.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354627.2:c.-150+801_-150+807delinsATTTTCT | NP_001341556.1:n.-150+801_-150+807delinsATTTTCT | |
| NM_001354628.2:c.677+801_677+807delinsATTTTCT | NP_001341557.1:n.677+801_677+807delinsATTTTCT | |
| NM_001354629.2:c.578+801_578+807delinsATTTTCT | NP_001341558.1:n.578+801_578+807delinsATTTTCT | |
| NM_001354630.2:c.677+801_677+807delinsATTTTCT | NP_001341559.1:n.677+801_677+807delinsATTTTCT |