Canonical Allele Identifier: CA1360917195

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717856_43717860delinsTAGTA , CM000665.2:g.43717856_43717860delinsTAGTA	GRCh38
NC_000003.11:g.43759348_43759352delinsTAGTA , CM000665.1:g.43759348_43759352delinsTAGTA	GRCh37
NC_000003.10:g.43734352_43734356delinsTAGTA	NCBI36
NG_007090.3:g.31974_31978delinsTAGTA
NG_007090.5:g.31987_31991delinsTAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.358_359+3delinsTAGTA
ENST00000454293.2:c.836_837+3delinsTAGTA
ENST00000458276.7:c.774-587_774-583delinsTAGTA	ENSP00000390849.3:n.774-587_774-583delinsTAGTA
ENST00000463153.2:c.186_187+3delinsTAGTA
ENST00000642351.1:c.836_837+3delinsTAGTA
ENST00000643140.1:c.*321_*322+3delinsTAGTA
ENST00000643477.1:c.*420_*421+3delinsTAGTA
ENST00000643500.1:c.*160_*161+3delinsTAGTA
ENST00000643520.1:n.1125_1126+3delinsTAGTA
ENST00000644371.2:c.959_960+3delinsTAGTA
ENST00000646378.1:c.*1009_*1010+3delinsTAGTA
ENST00000646799.1:c.*248-587_*248-583delinsTAGTA	ENSP00000494829.1:n.*248-587_*248-583delinsTAGTA
ENST00000649763.1:c.959_960+3delinsTAGTA
ENST00000413300.1:c.360_361+3delinsTAGTA
ENST00000458276.6:c.959_960+3delinsTAGTA
ENST00000463153.1:n.189_190+3delinsTAGTA
NM_016006.4:c.959_960+3delinsTAGTA
XM_011533779.1:c.836_837+3delinsTAGTA
XM_011533780.1:c.774-587_774-583delinsTAGTA	XP_011532082.1:n.774-587_774-583delinsTAGTA
XR_940447.1:n.904_905+3delinsTAGTA
NM_001355186.1:c.959_960+3delinsTAGTA
NM_001365649.1:c.836_837+3delinsTAGTA
NM_001365650.1:c.774-587_774-583delinsTAGTA	NP_001352579.1:n.774-587_774-583delinsTAGTA
NM_016006.5:c.959_960+3delinsTAGTA
NR_158560.1:n.970_971+3delinsTAGTA
NM_001355186.2:c.959_960+3delinsTAGTA
NM_016006.6:c.959_960+3delinsTAGTA