Canonical Allele Identifier: CA2356806534
Gene: ABHD12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25308136_25308139delinsAAGG , CM000682.2:g.25308136_25308139delinsAAGG GRCh38
NC_000020.10:g.25288772_25288775delinsAAGG , CM000682.1:g.25288772_25288775delinsAAGG GRCh37
NC_000020.9:g.25236772_25236775delinsAAGG NCBI36
NG_028119.1:g.87844_87847delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000339157.10:c.788-94_788-91delinsCCTT MANE Select ENSP00000341408.5:n.788-94_788-91delinsCCTT
ENST00000376542.8:c.788-94_788-91delinsCCTT ENSP00000365725.3:n.788-94_788-91delinsCCTT
ENST00000465694.2:c.242-94_242-91delinsCCTT ENSP00000459278.2:n.242-94_242-91delinsCCTT
ENST00000671784.1:c.242-94_242-91delinsCCTT ENSP00000500451.1:n.242-94_242-91delinsCCTT
ENST00000671858.1:c.242-94_242-91delinsCCTT ENSP00000500550.1:n.242-94_242-91delinsCCTT
ENST00000672001.1:n.299-94_299-91delinsCCTT
ENST00000672114.1:c.242-94_242-91delinsCCTT ENSP00000499945.1:n.242-94_242-91delinsCCTT
ENST00000672258.1:c.242-94_242-91delinsCCTT ENSP00000499868.1:n.242-94_242-91delinsCCTT
ENST00000672331.1:c.242-94_242-91delinsCCTT ENSP00000500286.1:n.242-94_242-91delinsCCTT
ENST00000672358.1:c.242-94_242-91delinsCCTT ENSP00000500062.1:n.242-94_242-91delinsCCTT
ENST00000672406.1:c.*127-94_*127-91delinsCCTT ENSP00000500208.1:n.*127-94_*127-91delinsCCTT
ENST00000672566.1:c.317-94_317-91delinsCCTT ENSP00000500106.1:n.317-94_317-91delinsCCTT
ENST00000672596.1:c.242-94_242-91delinsCCTT ENSP00000500290.1:n.242-94_242-91delinsCCTT
ENST00000672871.1:c.242-94_242-91delinsCCTT ENSP00000499949.1:n.242-94_242-91delinsCCTT
ENST00000673094.1:c.242-94_242-91delinsCCTT ENSP00000500257.1:n.242-94_242-91delinsCCTT
ENST00000673121.1:c.344-94_344-91delinsCCTT ENSP00000499839.1:n.344-94_344-91delinsCCTT
ENST00000673227.1:c.242-94_242-91delinsCCTT ENSP00000500514.1:n.242-94_242-91delinsCCTT
ENST00000673524.1:c.350-94_350-91delinsCCTT
ENST00000339157.9:c.788-94_788-91delinsCCTT ENSP00000341408.5:n.788-94_788-91delinsCCTT
ENST00000376542.7:c.788-94_788-91delinsCCTT ENSP00000365725.3:n.788-94_788-91delinsCCTT
ENST00000481556.1:n.442-94_442-91delinsCCTT
ENST00000491682.5:c.317-94_317-91delinsCCTT ENSP00000459495.1:n.317-94_317-91delinsCCTT
ENST00000576316.5:c.92-94_92-91delinsCCTT ENSP00000459121.1:n.92-94_92-91delinsCCTT
NM_001042472.2:c.788-94_788-91delinsCCTT NP_001035937.1:n.788-94_788-91delinsCCTT
NM_015600.4:c.788-94_788-91delinsCCTT NP_056415.1:n.788-94_788-91delinsCCTT
XM_005260698.1:c.788-94_788-91delinsCCTT XP_005260755.1:n.788-94_788-91delinsCCTT
XM_005260699.3:c.788-94_788-91delinsCCTT XP_005260756.1:n.788-94_788-91delinsCCTT
XM_005260700.1:c.317-94_317-91delinsCCTT XP_005260757.1:n.317-94_317-91delinsCCTT
XM_011529214.1:c.788-94_788-91delinsCCTT XP_011527516.1:n.788-94_788-91delinsCCTT
XM_011529215.1:c.317-94_317-91delinsCCTT XP_011527517.1:n.317-94_317-91delinsCCTT
XM_011529216.1:c.317-94_317-91delinsCCTT XP_011527518.1:n.317-94_317-91delinsCCTT
XM_011529217.1:c.131-94_131-91delinsCCTT XP_011527519.1:n.131-94_131-91delinsCCTT
XM_011529218.1:c.131-94_131-91delinsCCTT XP_011527520.1:n.131-94_131-91delinsCCTT
XM_011529214.2:c.788-94_788-91delinsCCTT XP_011527516.1:n.788-94_788-91delinsCCTT
XM_017027796.1:c.317-94_317-91delinsCCTT XP_016883285.1:n.317-94_317-91delinsCCTT
XR_002958465.1:n.798-94_798-91delinsCCTT
XR_002958466.1:n.918-94_918-91delinsCCTT
XR_002958467.1:n.477-94_477-91delinsCCTT
NM_001042472.3:c.788-94_788-91delinsCCTT MANE Select NP_001035937.1:n.788-94_788-91delinsCCTT
NM_015600.5:c.788-94_788-91delinsCCTT NP_056415.1:n.788-94_788-91delinsCCTT