Canonical Allele Identifier: CA2522282249

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717800del , CM000665.2:g.43717800del	GRCh38
NC_000003.11:g.43759292del , CM000665.1:g.43759292del	GRCh37
NC_000003.10:g.43734296del	NCBI36
NG_007090.3:g.31918del
NG_007090.5:g.31931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.302del
ENST00000454293.2:c.780del	ENSP00000412014.2:p.Asp260GlufsTer17
ENST00000458276.7:c.774-643del	ENSP00000390849.3:n.774-643del
ENST00000463153.2:c.130del
ENST00000642351.1:c.780del	ENSP00000494478.1:p.Asp260GlufsTer17
ENST00000643140.1:c.*265del	ENSP00000495588.1:n.*265del
ENST00000643477.1:c.*364del	ENSP00000496220.1:n.*364del
ENST00000643500.1:c.*104del	ENSP00000494735.1:n.*104del
ENST00000643520.1:n.1069del
ENST00000644371.2:c.903del MANE Select	ENSP00000495778.1:p.Asp301GlufsTer17
ENST00000646378.1:c.*953del	ENSP00000495826.1:n.*953del
ENST00000646799.1:c.*248-643del	ENSP00000494829.1:n.*248-643del
ENST00000649763.1:c.903del	ENSP00000497701.1:p.Asp301GlufsTer17
ENST00000413300.1:c.304del	ENSP00000392159.1:p.Trp102GlyfsTer?
ENST00000458276.6:c.903del	ENSP00000390849.2:p.Asp301GlufsTer17
ENST00000463153.1:n.133del
NM_016006.4:c.903del	NP_057090.2:p.Asp301GlufsTer17
XM_011533779.1:c.780del	XP_011532081.1:p.Asp260GlufsTer17
XM_011533780.1:c.774-643del	XP_011532082.1:n.774-643del
XR_940447.1:n.848del
NM_001355186.1:c.903del	NP_001342115.1:p.Asp301GlufsTer17
NM_001365649.1:c.780del	NP_001352578.1:p.Asp260GlufsTer17
NM_001365650.1:c.774-643del	NP_001352579.1:n.774-643del
NM_016006.5:c.903del	NP_057090.2:p.Asp301GlufsTer17
NR_158560.1:n.914del
NM_001355186.2:c.903del	NP_001342115.1:p.Asp301GlufsTer17
NM_016006.6:c.903del MANE Select	NP_057090.2:p.Asp301GlufsTer17