Canonical Allele Identifier: CA1360918475

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720811_43720812delinsGA , CM000665.2:g.43720811_43720812delinsGA	GRCh38
NC_000003.11:g.43762303_43762304delinsGA , CM000665.1:g.43762303_43762304delinsGA	GRCh37
NC_000003.10:g.43737307_43737308delinsGA	NCBI36
NG_007090.3:g.34929_34930delinsGA
NG_007090.5:g.34942_34943delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2250_*29+2251delinsGA	ENSP00000412014.2:n.*29+2250_*29+2251delinsGA
ENST00000463153.2:c.306+2250_306+2251delinsGA
ENST00000644371.2:c.*2279_*2280delinsGA MANE Select	ENSP00000495778.1:n.*2279_*2280delinsGA
ENST00000649763.1:c.*29+2250_*29+2251delinsGA	ENSP00000497701.1:n.*29+2250_*29+2251delinsGA
ENST00000463153.1:n.309+2250_309+2251delinsGA
NM_016006.4:c.*2279_*2280delinsGA	NP_057090.2:n.*2279_*2280delinsGA
XM_011533779.1:c.*2279_*2280delinsGA	XP_011532081.1:n.*2279_*2280delinsGA
XM_011533780.1:c.*2305_*2306delinsGA	XP_011532082.1:n.*2305_*2306delinsGA
XR_940447.1:n.3274_3275delinsGA
NM_001355186.1:c.*29+2250_*29+2251delinsGA	NP_001342115.1:n.*29+2250_*29+2251delinsGA
NM_001365649.1:c.*2279_*2280delinsGA	NP_001352578.1:n.*2279_*2280delinsGA
NM_001365650.1:c.*2305_*2306delinsGA	NP_001352579.1:n.*2305_*2306delinsGA
NM_016006.5:c.*2279_*2280delinsGA	NP_057090.2:n.*2279_*2280delinsGA
NR_158560.1:n.3340_3341delinsGA
NM_001355186.2:c.*29+2250_*29+2251delinsGA	NP_001342115.1:n.*29+2250_*29+2251delinsGA
NM_016006.6:c.*2279_*2280delinsGA MANE Select	NP_057090.2:n.*2279_*2280delinsGA