Canonical Allele Identifier: CA2665311563

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43720756-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720757_43720758insAGC , CM000665.2:g.43720757_43720758insAGC	GRCh38
NC_000003.11:g.43762249_43762250insAGC , CM000665.1:g.43762249_43762250insAGC	GRCh37
NC_000003.10:g.43737253_43737254insAGC	NCBI36
NG_007090.3:g.34875_34876insAGC
NG_007090.5:g.34888_34889insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2196_*29+2197insAGC	ENSP00000412014.2:n.*29+2196_*29+2197insAGC
ENST00000463153.2:c.306+2196_306+2197insAGC
ENST00000643477.1:c.*2736_*2737insAGC	ENSP00000496220.1:n.*2736_*2737insAGC
ENST00000644371.2:c.*2225_*2226insAGC MANE Select	ENSP00000495778.1:n.*2225_*2226insAGC
ENST00000649763.1:c.*29+2196_*29+2197insAGC	ENSP00000497701.1:n.*29+2196_*29+2197insAGC
ENST00000463153.1:n.309+2196_309+2197insAGC
NM_016006.4:c.*2225_*2226insAGC	NP_057090.2:n.*2225_*2226insAGC
XM_011533779.1:c.*2225_*2226insAGC	XP_011532081.1:n.*2225_*2226insAGC
XM_011533780.1:c.*2251_*2252insAGC	XP_011532082.1:n.*2251_*2252insAGC
XR_940447.1:n.3220_3221insAGC
NM_001355186.1:c.*29+2196_*29+2197insAGC	NP_001342115.1:n.*29+2196_*29+2197insAGC
NM_001365649.1:c.*2225_*2226insAGC	NP_001352578.1:n.*2225_*2226insAGC
NM_001365650.1:c.*2251_*2252insAGC	NP_001352579.1:n.*2251_*2252insAGC
NM_016006.5:c.*2225_*2226insAGC	NP_057090.2:n.*2225_*2226insAGC
NR_158560.1:n.3286_3287insAGC
NM_001355186.2:c.*29+2196_*29+2197insAGC	NP_001342115.1:n.*29+2196_*29+2197insAGC
NM_016006.6:c.*2225_*2226insAGC MANE Select	NP_057090.2:n.*2225_*2226insAGC