Canonical Allele Identifier: CA2736751069
Gene: ABHD12 HGNC NCBI

Linked Data

dbSNP Id: rs2145931696

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25308107_25308108del , CM000682.2:g.25308107_25308108del GRCh38
NC_000020.10:g.25288743_25288744del , CM000682.1:g.25288743_25288744del GRCh37
NC_000020.9:g.25236743_25236744del NCBI36
NG_028119.1:g.87877_87878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339157.10:c.788-61_788-60del MANE Select ENSP00000341408.5:n.788-61_788-60del
ENST00000376542.8:c.788-61_788-60del ENSP00000365725.3:n.788-61_788-60del
ENST00000465694.2:c.242-61_242-60del ENSP00000459278.2:n.242-61_242-60del
ENST00000671784.1:c.242-61_242-60del ENSP00000500451.1:n.242-61_242-60del
ENST00000671858.1:c.242-61_242-60del ENSP00000500550.1:n.242-61_242-60del
ENST00000672001.1:n.299-61_299-60del
ENST00000672114.1:c.242-61_242-60del ENSP00000499945.1:n.242-61_242-60del
ENST00000672258.1:c.242-61_242-60del ENSP00000499868.1:n.242-61_242-60del
ENST00000672331.1:c.242-61_242-60del ENSP00000500286.1:n.242-61_242-60del
ENST00000672358.1:c.242-61_242-60del ENSP00000500062.1:n.242-61_242-60del
ENST00000672406.1:c.*127-61_*127-60del ENSP00000500208.1:n.*127-61_*127-60del
ENST00000672566.1:c.317-61_317-60del ENSP00000500106.1:n.317-61_317-60del
ENST00000672596.1:c.242-61_242-60del ENSP00000500290.1:n.242-61_242-60del
ENST00000672871.1:c.242-61_242-60del ENSP00000499949.1:n.242-61_242-60del
ENST00000673094.1:c.242-61_242-60del ENSP00000500257.1:n.242-61_242-60del
ENST00000673121.1:c.344-61_344-60del ENSP00000499839.1:n.344-61_344-60del
ENST00000673227.1:c.242-61_242-60del ENSP00000500514.1:n.242-61_242-60del
ENST00000673524.1:c.350-61_350-60del
ENST00000339157.9:c.788-61_788-60del ENSP00000341408.5:n.788-61_788-60del
ENST00000376542.7:c.788-61_788-60del ENSP00000365725.3:n.788-61_788-60del
ENST00000481556.1:n.442-61_442-60del
ENST00000491682.5:c.317-61_317-60del ENSP00000459495.1:n.317-61_317-60del
ENST00000576316.5:c.92-61_92-60del ENSP00000459121.1:n.92-61_92-60del
NM_001042472.2:c.788-61_788-60del NP_001035937.1:n.788-61_788-60del
NM_015600.4:c.788-61_788-60del NP_056415.1:n.788-61_788-60del
XM_005260698.1:c.788-61_788-60del XP_005260755.1:n.788-61_788-60del
XM_005260699.3:c.788-61_788-60del XP_005260756.1:n.788-61_788-60del
XM_005260700.1:c.317-61_317-60del XP_005260757.1:n.317-61_317-60del
XM_011529214.1:c.788-61_788-60del XP_011527516.1:n.788-61_788-60del
XM_011529215.1:c.317-61_317-60del XP_011527517.1:n.317-61_317-60del
XM_011529216.1:c.317-61_317-60del XP_011527518.1:n.317-61_317-60del
XM_011529217.1:c.131-61_131-60del XP_011527519.1:n.131-61_131-60del
XM_011529218.1:c.131-61_131-60del XP_011527520.1:n.131-61_131-60del
XM_011529214.2:c.788-61_788-60del XP_011527516.1:n.788-61_788-60del
XM_017027796.1:c.317-61_317-60del XP_016883285.1:n.317-61_317-60del
XR_002958465.1:n.798-61_798-60del
XR_002958466.1:n.918-61_918-60del
XR_002958467.1:n.477-61_477-60del
NM_001042472.3:c.788-61_788-60del MANE Select NP_001035937.1:n.788-61_788-60del
NM_015600.5:c.788-61_788-60del NP_056415.1:n.788-61_788-60del