Canonical Allele Identifier: CA2289322404

Gene: ABHD3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681576_21681582delinsGTTCTCT , CM000680.2:g.21681576_21681582delinsGTTCTCT	GRCh38
NC_000018.9:g.19261537_19261543delinsGTTCTCT , CM000680.1:g.19261537_19261543delinsGTTCTCT	GRCh37
NC_000018.8:g.17515535_17515541delinsGTTCTCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289119.7:c.555+2338_555+2344delinsAGAGAAC MANE Select	ENSP00000289119.2:n.555+2338_555+2344delinsAGAGAAC
ENST00000289119.6:c.555+2338_555+2344delinsAGAGAAC	ENSP00000289119.2:n.555+2338_555+2344delinsAGAGAAC
ENST00000577891.1:c.*74+2338_*74+2344delinsAGAGAAC	ENSP00000463365.1:n.*74+2338_*74+2344delinsAGAGAAC
ENST00000578270.5:c.-471+2338_-471+2344delinsAGAGAAC	ENSP00000462578.1:n.-471+2338_-471+2344delinsAGAGAAC
ENST00000579875.5:n.485-17352_485-17346delinsAGAGAAC
ENST00000580981.5:c.509+20734_509+20740delinsAGAGAAC	ENSP00000462935.1:n.509+20734_509+20740delinsAGAGAAC
NM_001308256.1:c.509+20734_509+20740delinsAGAGAAC	NP_001295185.1:n.509+20734_509+20740delinsAGAGAAC
NM_138340.4:c.555+2338_555+2344delinsAGAGAAC	NP_612213.2:n.555+2338_555+2344delinsAGAGAAC
XM_011525847.1:c.555+2338_555+2344delinsAGAGAAC	XP_011524149.1:n.555+2338_555+2344delinsAGAGAAC
XR_243847.1:n.695+2338_695+2344delinsAGAGAAC
XR_935209.1:n.650-17352_650-17346delinsAGAGAAC
XR_935210.1:n.650-17352_650-17346delinsAGAGAAC
XM_011525847.3:c.555+2338_555+2344delinsAGAGAAC	XP_011524149.1:n.555+2338_555+2344delinsAGAGAAC
XM_017025572.1:c.-470-17352_-470-17346delinsAGAGAAC	XP_016881061.1:n.-470-17352_-470-17346delinsAGAGAAC
XM_017025573.1:c.-471+591_-471+597delinsAGAGAAC	XP_016881062.1:n.-471+591_-471+597delinsAGAGAAC
XM_017025574.1:c.-471+179_-471+185delinsAGAGAAC	XP_016881063.1:n.-471+179_-471+185delinsAGAGAAC
XM_024451094.1:c.-471+2338_-471+2344delinsAGAGAAC	XP_024306862.1:n.-471+2338_-471+2344delinsAGAGAAC
XR_001753151.2:n.683+2338_683+2344delinsAGAGAAC
XR_002958165.1:n.683+2338_683+2344delinsAGAGAAC
XR_935209.3:n.638-17352_638-17346delinsAGAGAAC
XR_935210.3:n.638-17352_638-17346delinsAGAGAAC
NM_138340.5:c.555+2338_555+2344delinsAGAGAAC MANE Select	NP_612213.2:n.555+2338_555+2344delinsAGAGAAC
NM_001308256.2:c.509+20734_509+20740delinsAGAGAAC	NP_001295185.1:n.509+20734_509+20740delinsAGAGAAC