Canonical Allele Identifier: CA634951545
Gene: ABHD12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25308123_25308124insTTCCTGTGGGCGTGGCGCTTACGTGATCGCTCGCCAGTCCATGTCGAGGATTCGTTGCCTGTTGAGGATGCCTCGCGTTCTGGTGATGATGTCCGCGAAGTCTGCTGTACTGTAGGAGCCTTGTACTACTA , CM000682.2:g.25308123_25308124insTTCCTGTGGGCGTGGCGCTTACGTGATCGCTCGCCAGTCCATGTCGAGGATTCGTTGCCTGTTGAGGATGCCTCGCGTTCTGGTGATGATGTCCGCGAAGTCTGCTGTACTGTAGGAGCCTTGTACTACTA GRCh38
NC_000020.10:g.25288759_25288760insTTCCTGTGGGCGTGGCGCTTACGTGATCGCTCGCCAGTCCATGTCGAGGATTCGTTGCCTGTTGAGGATGCCTCGCGTTCTGGTGATGATGTCCGCGAAGTCTGCTGTACTGTAGGAGCCTTGTACTACTA , CM000682.1:g.25288759_25288760insTTCCTGTGGGCGTGGCGCTTACGTGATCGCTCGCCAGTCCATGTCGAGGATTCGTTGCCTGTTGAGGATGCCTCGCGTTCTGGTGATGATGTCCGCGAAGTCTGCTGTACTGTAGGAGCCTTGTACTACTA GRCh37
NC_000020.9:g.25236759_25236760insTTCCTGTGGGCGTGGCGCTTACGTGATCGCTCGCCAGTCCATGTCGAGGATTCGTTGCCTGTTGAGGATGCCTCGCGTTCTGGTGATGATGTCCGCGAAGTCTGCTGTACTGTAGGAGCCTTGTACTACTA NCBI36
NG_028119.1:g.87859_87860insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000339157.10:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA MANE Select ENSP00000341408.5:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000376542.8:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000365725.3:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000465694.2:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000459278.2:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000671784.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500451.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000671858.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500550.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000672001.1:n.299-79_299-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA
ENST00000672114.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000499945.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000672258.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000499868.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000672331.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500286.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000672358.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500062.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000672406.1:c.*127-79_*127-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500208.1:n.*127-79_*127-78insTAGTAGTACAAGGCTCCTACAGT...
ENST00000672566.1:c.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500106.1:n.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000672596.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500290.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000672871.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000499949.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000673094.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500257.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000673121.1:c.344-79_344-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000499839.1:n.344-79_344-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000673227.1:c.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000500514.1:n.242-79_242-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000673524.1:c.350-79_350-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA
ENST00000339157.9:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000341408.5:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000376542.7:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000365725.3:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000481556.1:n.442-79_442-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA
ENST00000491682.5:c.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000459495.1:n.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTAC...
ENST00000576316.5:c.92-79_92-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA ENSP00000459121.1:n.92-79_92-78insTAGTAGTACAAGGCTCCTACAGTACAG...
NM_001042472.2:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA NP_001035937.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
NM_015600.4:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA NP_056415.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGA...
XM_005260698.1:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_005260755.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_005260699.3:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_005260756.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_005260700.1:c.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_005260757.1:n.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_011529214.1:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_011527516.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_011529215.1:c.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_011527517.1:n.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_011529216.1:c.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_011527518.1:n.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_011529217.1:c.131-79_131-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_011527519.1:n.131-79_131-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_011529218.1:c.131-79_131-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_011527520.1:n.131-79_131-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_011529214.2:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_011527516.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XM_017027796.1:c.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA XP_016883285.1:n.317-79_317-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
XR_002958465.1:n.798-79_798-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA
XR_002958466.1:n.918-79_918-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA
XR_002958467.1:n.477-79_477-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA
NM_001042472.3:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA MANE Select NP_001035937.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGC...
NM_015600.5:c.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGACTTCGCGGACATCATCACCAGAACGCGAGGCATCCTCAACAGGCAACGAATCCTCGACATGGACTGGCGAGCGATCACGTAAGCGCCACGCCCACAGGAA NP_056415.1:n.788-79_788-78insTAGTAGTACAAGGCTCCTACAGTACAGCAGA...