Canonical Allele Identifier: CA1360918466

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720797_43720800delinsCTGT , CM000665.2:g.43720797_43720800delinsCTGT	GRCh38
NC_000003.11:g.43762289_43762292delinsCTGT , CM000665.1:g.43762289_43762292delinsCTGT	GRCh37
NC_000003.10:g.43737293_43737296delinsCTGT	NCBI36
NG_007090.3:g.34915_34918delinsCTGT
NG_007090.5:g.34928_34931delinsCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2236_*29+2239delinsCTGT	ENSP00000412014.2:n.*29+2236_*29+2239delinsCTGT
ENST00000463153.2:c.306+2236_306+2239delinsCTGT
ENST00000643477.1:c.*2776_*2779delinsCTGT	ENSP00000496220.1:n.*2776_*2779delinsCTGT
ENST00000644371.2:c.*2265_*2268delinsCTGT MANE Select	ENSP00000495778.1:n.*2265_*2268delinsCTGT
ENST00000649763.1:c.*29+2236_*29+2239delinsCTGT	ENSP00000497701.1:n.*29+2236_*29+2239delinsCTGT
ENST00000463153.1:n.309+2236_309+2239delinsCTGT
NM_016006.4:c.*2265_*2268delinsCTGT	NP_057090.2:n.*2265_*2268delinsCTGT
XM_011533779.1:c.*2265_*2268delinsCTGT	XP_011532081.1:n.*2265_*2268delinsCTGT
XM_011533780.1:c.*2291_*2294delinsCTGT	XP_011532082.1:n.*2291_*2294delinsCTGT
XR_940447.1:n.3260_3263delinsCTGT
NM_001355186.1:c.*29+2236_*29+2239delinsCTGT	NP_001342115.1:n.*29+2236_*29+2239delinsCTGT
NM_001365649.1:c.*2265_*2268delinsCTGT	NP_001352578.1:n.*2265_*2268delinsCTGT
NM_001365650.1:c.*2291_*2294delinsCTGT	NP_001352579.1:n.*2291_*2294delinsCTGT
NM_016006.5:c.*2265_*2268delinsCTGT	NP_057090.2:n.*2265_*2268delinsCTGT
NR_158560.1:n.3326_3329delinsCTGT
NM_001355186.2:c.*29+2236_*29+2239delinsCTGT	NP_001342115.1:n.*29+2236_*29+2239delinsCTGT
NM_016006.6:c.*2265_*2268delinsCTGT MANE Select	NP_057090.2:n.*2265_*2268delinsCTGT