Canonical Allele Identifier: CA1360918346

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720495_43720498delinsCTTT , CM000665.2:g.43720495_43720498delinsCTTT	GRCh38
NC_000003.11:g.43761987_43761990delinsCTTT , CM000665.1:g.43761987_43761990delinsCTTT	GRCh37
NC_000003.10:g.43736991_43736994delinsCTTT	NCBI36
NG_007090.3:g.34613_34616delinsCTTT
NG_007090.5:g.34626_34629delinsCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1934_*29+1937delinsCTTT	ENSP00000412014.2:n.*29+1934_*29+1937delinsCTTT
ENST00000463153.2:c.306+1934_306+1937delinsCTTT
ENST00000643477.1:c.*2474_*2477delinsCTTT	ENSP00000496220.1:n.*2474_*2477delinsCTTT
ENST00000644371.2:c.*1963_*1966delinsCTTT MANE Select	ENSP00000495778.1:n.*1963_*1966delinsCTTT
ENST00000649763.1:c.*29+1934_*29+1937delinsCTTT	ENSP00000497701.1:n.*29+1934_*29+1937delinsCTTT
ENST00000463153.1:n.309+1934_309+1937delinsCTTT
NM_016006.4:c.*1963_*1966delinsCTTT	NP_057090.2:n.*1963_*1966delinsCTTT
XM_011533779.1:c.*1963_*1966delinsCTTT	XP_011532081.1:n.*1963_*1966delinsCTTT
XM_011533780.1:c.*1989_*1992delinsCTTT	XP_011532082.1:n.*1989_*1992delinsCTTT
XR_940447.1:n.2958_2961delinsCTTT
NM_001355186.1:c.*29+1934_*29+1937delinsCTTT	NP_001342115.1:n.*29+1934_*29+1937delinsCTTT
NM_001365649.1:c.*1963_*1966delinsCTTT	NP_001352578.1:n.*1963_*1966delinsCTTT
NM_001365650.1:c.*1989_*1992delinsCTTT	NP_001352579.1:n.*1989_*1992delinsCTTT
NM_016006.5:c.*1963_*1966delinsCTTT	NP_057090.2:n.*1963_*1966delinsCTTT
NR_158560.1:n.3024_3027delinsCTTT
NM_001355186.2:c.*29+1934_*29+1937delinsCTTT	NP_001342115.1:n.*29+1934_*29+1937delinsCTTT
NM_016006.6:c.*1963_*1966delinsCTTT MANE Select	NP_057090.2:n.*1963_*1966delinsCTTT