Canonical Allele Identifier: CA2652224012

Gene: ABHD12

Linked Data

• gnomAD v4: 20-25308052-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25308052_25308053insC , CM000682.2:g.25308052_25308053insC	GRCh38
NC_000020.10:g.25288688_25288689insC , CM000682.1:g.25288688_25288689insC	GRCh37
NC_000020.9:g.25236688_25236689insC	NCBI36
NG_028119.1:g.87930_87931insG

Transcript Alleles

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