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.
Linked Data
gnomAD v4:
3-51987143-A-ATTTATTGTATTTATTTATTTATTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987144_51987145insTTATTGTATTTATTTATTTATTTTT , CM000665.2:g.51987144_51987145insTTATTGTATTTATTTATTTATTTTT | GRCh38 |
| NC_000003.11:g.52021160_52021161insTTATTGTATTTATTTATTTATTTTT , CM000665.1:g.52021160_52021161insTTATTGTATTTATTTATTTATTTTT | GRCh37 |
| NC_000003.10:g.51996200_51996201insTTATTGTATTTATTTATTTATTTTT | NCBI36 |
| NG_012036.1:g.8598_8599insTTATTGTATTTATTTATTTATTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000384296.2:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000464587.2:n.344-3_344-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000486081.6:c.*504-3_*504-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000420395.1:n.*504-3_*504-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000635785.1:c.887+83_887+84insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.553-3_553-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000490007.1:n.553-3_553-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000635937.1:c.*912_*913insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000489887.1:n.*912_*913insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000635941.1:c.929_930insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000490309.1:n.929_930insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000635946.1:c.*1012_*1013insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490284.1:n.*1012_*1013insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000635951.1:c.*930-3_*930-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490649.1:n.*930-3_*930-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000635952.1:c.745-3_745-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490434.1:n.745-3_745-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000636085.1:c.*586_*587insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000489981.1:n.*586_*587insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000636089.1:c.*995-3_*995-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490657.1:n.*995-3_*995-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000636358.2:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ACY1) MANE Select | ENSP00000490149.1:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000636490.1:c.*995-3_*995-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490575.1:n.*995-3_*995-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000636556.1:c.*603-3_*603-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000490500.1:n.*603-3_*603-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000636646.1:c.*895-3_*895-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490688.1:n.*895-3_*895-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000636660.1:c.618_619insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1267_*1268insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490429.1:n.*1267_*1268insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000636826.1:c.*586_*587insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000489721.1:n.*586_*587insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000636880.1:c.*368-3_*368-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000489947.1:n.*368-3_*368-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000636942.1:c.*539-3_*539-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490848.1:n.*539-3_*539-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000637025.1:c.*776_*777insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490236.1:n.*776_*777insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000637034.1:n.88_89insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000637130.1:c.*876_*877insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490887.1:n.*876_*877insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000637199.1:n.131-3_131-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000637209.1:c.*368-3_*368-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000490708.1:n.*368-3_*368-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000637222.1:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490353.1:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000637349.1:c.*220+83_*220+84insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000489688.1:n.*220+83_*220+84insTTATTGTATTTATTTATTTATTT... | |
| ENST00000637460.1:n.692-3_692-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000637512.1:c.905_906insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1403_*1404insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490319.1:n.*1403_*1404insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000637696.1:c.*1012_*1013insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490554.1:n.*1012_*1013insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000637730.1:c.1191-3_1191-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1403_*1404insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000490052.1:n.*1403_*1404insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000637978.1:c.1227-3_1227-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.546_547insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000638136.1:n.1071_1072insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000404366.6:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000384296.2:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000463721.5:c.*569-3_*569-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000417688.1:n.*569-3_*569-2insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000463937.1:c.961-3_961-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | ENSP00000420487.1:n.961-3_961-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000464587.1:n.344-3_344-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000465121.5:n.731-3_731-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ||
| ENST00000476351.5:c.553-3_553-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000417056.1:n.553-3_553-2insTTATTGTATTTATTTATTTATTTTT | |
| ENST00000476854.5:c.657+83_657+84insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000419262.1:n.657+83_657+84insTTATTGTATTTATTTATTTATTTTT... | |
| ENST00000491318.5:c.584-165_584-164insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000418683.1:n.584-165_584-164insTTATTGTATTTATTTATTTATTT... | |
| ENST00000494103.5:c.442-3_442-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | ENSP00000417618.1:n.442-3_442-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_000666.2:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_000657.1:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198895.1:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185824.1:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198896.1:c.442-3_442-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185825.1:n.442-3_442-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198897.1:c.657+83_657+84insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185826.1:n.657+83_657+84insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198898.1:c.553-3_553-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185827.1:n.553-3_553-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001316331.1:c.928-3_928-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | NP_001303260.1:n.928-3_928-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_000666.3:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ACY1) MANE Select | NP_000657.1:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198895.2:c.658-3_658-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185824.1:n.658-3_658-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198896.2:c.442-3_442-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185825.1:n.442-3_442-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198897.2:c.657+83_657+84insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185826.1:n.657+83_657+84insTTATTGTATTTATTTATTTATTTTT | |
| NM_001198898.2:c.553-3_553-2insTTATTGTATTTATTTATTTATTTTT (ACY1) | NP_001185827.1:n.553-3_553-2insTTATTGTATTTATTTATTTATTTTT | |
| NM_001316331.2:c.928-3_928-2insTTATTGTATTTATTTATTTATTTTT (ABHD14A-ACY1) | NP_001303260.1:n.928-3_928-2insTTATTGTATTTATTTATTTATTTTT |