Linked Data
dbSNP Id:
rs752853151
ExAC:
3:52020985 TC / T
gnomAD v2:
3-52020985-TC-T
gnomAD v3:
3-51986969-TC-T
gnomAD v4:
3-51986969-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51986974del , CM000665.2:g.51986974del | GRCh38 |
| NC_000003.11:g.52020990del , CM000665.1:g.52020990del | GRCh37 |
| NC_000003.10:g.51996030del | NCBI36 |
| NG_012036.1:g.8428del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.584-14del (ACY1) | ENSP00000384296.2:n.584-14del | |
| ENST00000464587.2:n.270-14del (ACY1) | ||
| ENST00000486081.6:c.*430-14del (ABHD14A-ACY1) | ENSP00000420395.1:n.*430-14del | |
| ENST00000635785.1:c.814-14del (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.479-14del (ACY1) | ENSP00000490007.1:n.479-14del | |
| ENST00000635937.1:c.*742del (ABHD14A-ACY1) | ENSP00000489887.1:n.*742del | |
| ENST00000635941.1:c.759del (ACY1) | ENSP00000490309.1:n.759del | |
| ENST00000635946.1:c.*842del (ABHD14A-ACY1) | ENSP00000490284.1:n.*842del | |
| ENST00000635951.1:c.*842del (ABHD14A-ACY1) | ENSP00000490649.1:n.*842del | |
| ENST00000635952.1:c.671-14del (ABHD14A-ACY1) | ENSP00000490434.1:n.671-14del | |
| ENST00000636047.1:n.590del (ACY1) | ||
| ENST00000636085.1:c.*430-14del (ABHD14A-ACY1) | ENSP00000489981.1:n.*430-14del | |
| ENST00000636089.1:c.*907del (ABHD14A-ACY1) | ENSP00000490657.1:n.*907del | |
| ENST00000636358.2:c.584-14del (ACY1) MANE Select | ENSP00000490149.1:n.584-14del | |
| ENST00000636490.1:c.*907del (ABHD14A-ACY1) | ENSP00000490575.1:n.*907del | |
| ENST00000636556.1:c.*529-14del (ACY1) | ENSP00000490500.1:n.*529-14del | |
| ENST00000636646.1:c.*807del (ABHD14A-ACY1) | ENSP00000490688.1:n.*807del | |
| ENST00000636660.1:c.462-14del (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1097del (ABHD14A-ACY1) | ENSP00000490429.1:n.*1097del | |
| ENST00000636826.1:c.*430-14del (ABHD14A-ACY1) | ENSP00000489721.1:n.*430-14del | |
| ENST00000636880.1:c.*294-14del (ACY1) | ENSP00000489947.1:n.*294-14del | |
| ENST00000636942.1:c.*451del (ABHD14A-ACY1) | ENSP00000490848.1:n.*451del | |
| ENST00000637025.1:c.*606del (ABHD14A-ACY1) | ENSP00000490236.1:n.*606del | |
| ENST00000637130.1:c.*706del (ABHD14A-ACY1) | ENSP00000490887.1:n.*706del | |
| ENST00000637199.1:n.43del (ACY1) | ||
| ENST00000637209.1:c.*294-14del (ACY1) | ENSP00000490708.1:n.*294-14del | |
| ENST00000637222.1:c.584-14del (ABHD14A-ACY1) | ENSP00000490353.1:n.584-14del | |
| ENST00000637251.1:n.1643del (ACY1) | ||
| ENST00000637349.1:c.*147-14del (ACY1) | ENSP00000489688.1:n.*147-14del | |
| ENST00000637460.1:n.604del (ACY1) | ||
| ENST00000637461.1:c.431-14del (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.749-14del (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1233del (ABHD14A-ACY1) | ENSP00000490319.1:n.*1233del | |
| ENST00000637696.1:c.*842del (ABHD14A-ACY1) | ENSP00000490554.1:n.*842del | |
| ENST00000637730.1:c.1103del (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1233del (ABHD14A-ACY1) | ENSP00000490052.1:n.*1233del | |
| ENST00000637978.1:c.1153-14del (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.376del (ACY1) | ||
| ENST00000638136.1:n.915-14del (ACY1) | ||
| ENST00000404366.6:c.584-14del (ACY1) | ENSP00000384296.2:n.584-14del | |
| ENST00000463721.5:c.*495-14del (ABHD14A-ACY1) | ENSP00000417688.1:n.*495-14del | |
| ENST00000463937.1:c.887-14del (ABHD14A-ACY1) | ENSP00000420487.1:n.887-14del | |
| ENST00000464587.1:n.270-14del (ACY1) | ||
| ENST00000465121.5:n.657-14del (ACY1) | ||
| ENST00000469863.1:c.611-14del (ACY1) | ENSP00000419830.1:n.611-14del | |
| ENST00000476351.5:c.479-14del (ACY1) | ENSP00000417056.1:n.479-14del | |
| ENST00000476854.5:c.584-14del (ACY1) | ENSP00000419262.1:n.584-14del | |
| ENST00000491318.5:c.583+313del (ACY1) | ENSP00000418683.1:n.583+313del | |
| ENST00000494103.5:c.368-14del (ACY1) | ENSP00000417618.1:n.368-14del | |
| NM_000666.2:c.584-14del (ACY1) | NP_000657.1:n.584-14del | |
| NM_001198895.1:c.584-14del (ACY1) | NP_001185824.1:n.584-14del | |
| NM_001198896.1:c.368-14del (ACY1) | NP_001185825.1:n.368-14del | |
| NM_001198897.1:c.584-14del (ACY1) | NP_001185826.1:n.584-14del | |
| NM_001198898.1:c.479-14del (ACY1) | NP_001185827.1:n.479-14del | |
| NM_001316331.1:c.854-14del (ABHD14A-ACY1) | NP_001303260.1:n.854-14del | |
| NM_000666.3:c.584-14del (ACY1) MANE Select | NP_000657.1:n.584-14del | |
| NM_001198895.2:c.584-14del (ACY1) | NP_001185824.1:n.584-14del | |
| NM_001198896.2:c.368-14del (ACY1) | NP_001185825.1:n.368-14del | |
| NM_001198897.2:c.584-14del (ACY1) | NP_001185826.1:n.584-14del | |
| NM_001198898.2:c.479-14del (ACY1) | NP_001185827.1:n.479-14del | |
| NM_001316331.2:c.854-14del (ABHD14A-ACY1) | NP_001303260.1:n.854-14del |