Canonical Allele Identifier: CA2665957103
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987184del , CM000665.2:g.51987184del GRCh38
NC_000003.11:g.52021200del , CM000665.1:g.52021200del GRCh37
NC_000003.10:g.51996240del NCBI36
NG_012036.1:g.8638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.695del (ACY1) ENSP00000384296.2:p.Lys232ArgfsTer12
ENST00000464587.2:n.381del (ACY1)
ENST00000486081.6:c.*541del (ABHD14A-ACY1) ENSP00000420395.1:n.*541del
ENST00000635785.1:c.887+123del (ABHD14A-ACY1)
ENST00000635797.1:c.590del (ACY1) ENSP00000490007.1:p.Lys197ArgfsTer12
ENST00000635937.1:c.*952del (ABHD14A-ACY1) ENSP00000489887.1:n.*952del
ENST00000635941.1:c.969del (ACY1) ENSP00000490309.1:n.969del
ENST00000635946.1:c.*1052del (ABHD14A-ACY1) ENSP00000490284.1:n.*1052del
ENST00000635951.1:c.*967del (ABHD14A-ACY1) ENSP00000490649.1:n.*967del
ENST00000635952.1:c.782del (ABHD14A-ACY1) ENSP00000490434.1:p.Lys261ArgfsTer?
ENST00000636089.1:c.*1032del (ABHD14A-ACY1) ENSP00000490657.1:n.*1032del
ENST00000636358.2:c.695del (ACY1) MANE Select ENSP00000490149.1:p.Lys232ArgfsTer12
ENST00000636490.1:c.*1032del (ABHD14A-ACY1) ENSP00000490575.1:n.*1032del
ENST00000636556.1:c.*640del (ACY1) ENSP00000490500.1:n.*640del
ENST00000636646.1:c.*932del (ABHD14A-ACY1) ENSP00000490688.1:n.*932del
ENST00000636660.1:c.658del (ABHD14A-ACY1)
ENST00000636718.1:c.*1307del (ABHD14A-ACY1) ENSP00000490429.1:n.*1307del
ENST00000636826.1:c.*626del (ABHD14A-ACY1) ENSP00000489721.1:n.*626del
ENST00000636880.1:c.*405del (ACY1) ENSP00000489947.1:n.*405del
ENST00000636942.1:c.*576del (ABHD14A-ACY1) ENSP00000490848.1:n.*576del
ENST00000637025.1:c.*816del (ABHD14A-ACY1) ENSP00000490236.1:n.*816del
ENST00000637034.1:n.128del (ACY1)
ENST00000637130.1:c.*916del (ABHD14A-ACY1) ENSP00000490887.1:n.*916del
ENST00000637199.1:n.168del (ACY1)
ENST00000637222.1:c.695del (ABHD14A-ACY1) ENSP00000490353.1:p.Lys232ArgfsTer12
ENST00000637349.1:c.*220+123del (ACY1) ENSP00000489688.1:n.*220+123del
ENST00000637460.1:n.729del (ACY1)
ENST00000637512.1:c.945del (ABHD14A-ACY1)
ENST00000637563.1:c.*1443del (ABHD14A-ACY1) ENSP00000490319.1:n.*1443del
ENST00000637696.1:c.*1052del (ABHD14A-ACY1) ENSP00000490554.1:n.*1052del
ENST00000637730.1:c.1228del (ABHD14A-ACY1)
ENST00000637778.1:c.*1443del (ABHD14A-ACY1) ENSP00000490052.1:n.*1443del
ENST00000637978.1:c.1264del (ABHD14A-ACY1)
ENST00000638096.1:n.586del (ACY1)
ENST00000638136.1:n.1111del (ACY1)
ENST00000404366.6:c.695del (ACY1) ENSP00000384296.2:p.Lys232ArgfsTer12
ENST00000463721.5:c.*606del (ABHD14A-ACY1) ENSP00000417688.1:n.*606del
ENST00000463937.1:c.998del (ABHD14A-ACY1) ENSP00000420487.1:p.Lys333ArgfsTer12
ENST00000464587.1:n.381del (ACY1)
ENST00000465121.5:n.768del (ACY1)
ENST00000476351.5:c.590del (ACY1) ENSP00000417056.1:p.Lys197ArgfsTer12
ENST00000476854.5:c.657+123del (ACY1) ENSP00000419262.1:n.657+123del
ENST00000491318.5:c.584-125del (ACY1) ENSP00000418683.1:n.584-125del
ENST00000494103.5:c.479del (ACY1) ENSP00000417618.1:p.Lys160ArgfsTer12
NM_000666.2:c.695del (ACY1) NP_000657.1:p.Lys232ArgfsTer12
NM_001198895.1:c.695del (ACY1) NP_001185824.1:p.Lys232ArgfsTer12
NM_001198896.1:c.479del (ACY1) NP_001185825.1:p.Lys160ArgfsTer12
NM_001198897.1:c.657+123del (ACY1) NP_001185826.1:n.657+123del
NM_001198898.1:c.590del (ACY1) NP_001185827.1:p.Lys197ArgfsTer12
NM_001316331.1:c.965del (ABHD14A-ACY1) NP_001303260.1:p.Lys322ArgfsTer12
NM_000666.3:c.695del (ACY1) MANE Select NP_000657.1:p.Lys232ArgfsTer12
NM_001198895.2:c.695del (ACY1) NP_001185824.1:p.Lys232ArgfsTer12
NM_001198896.2:c.479del (ACY1) NP_001185825.1:p.Lys160ArgfsTer12
NM_001198897.2:c.657+123del (ACY1) NP_001185826.1:n.657+123del
NM_001198898.2:c.590del (ACY1) NP_001185827.1:p.Lys197ArgfsTer12
NM_001316331.2:c.965del (ABHD14A-ACY1) NP_001303260.1:p.Lys322ArgfsTer12