Canonical Allele Identifier: CA2811765036

Gene: ABHD3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681490_21681492dup , CM000680.2:g.21681490_21681492dup	GRCh38
NC_000018.9:g.19261451_19261453dup , CM000680.1:g.19261451_19261453dup	GRCh37
NC_000018.8:g.17515449_17515451dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289119.7:c.555+2431_555+2433dup MANE Select	ENSP00000289119.2:n.555+2431_555+2433dup
ENST00000289119.6:c.555+2431_555+2433dup	ENSP00000289119.2:n.555+2431_555+2433dup
ENST00000577891.1:c.*74+2431_*74+2433dup	ENSP00000463365.1:n.*74+2431_*74+2433dup
ENST00000578270.5:c.-471+2431_-471+2433dup	ENSP00000462578.1:n.-471+2431_-471+2433dup
ENST00000579875.5:n.485-17259_485-17257dup
ENST00000580981.5:c.509+20827_509+20829dup	ENSP00000462935.1:n.509+20827_509+20829dup
NM_001308256.1:c.509+20827_509+20829dup	NP_001295185.1:n.509+20827_509+20829dup
NM_138340.4:c.555+2431_555+2433dup	NP_612213.2:n.555+2431_555+2433dup
XM_011525847.1:c.555+2431_555+2433dup	XP_011524149.1:n.555+2431_555+2433dup
XR_243847.1:n.695+2431_695+2433dup
XR_935209.1:n.650-17259_650-17257dup
XR_935210.1:n.650-17259_650-17257dup
XM_011525847.3:c.555+2431_555+2433dup	XP_011524149.1:n.555+2431_555+2433dup
XM_017025572.1:c.-470-17259_-470-17257dup	XP_016881061.1:n.-470-17259_-470-17257dup
XM_017025573.1:c.-471+684_-471+686dup	XP_016881062.1:n.-471+684_-471+686dup
XM_017025574.1:c.-471+272_-471+274dup	XP_016881063.1:n.-471+272_-471+274dup
XM_024451094.1:c.-471+2431_-471+2433dup	XP_024306862.1:n.-471+2431_-471+2433dup
XR_001753151.2:n.683+2431_683+2433dup
XR_002958165.1:n.683+2431_683+2433dup
XR_935209.3:n.638-17259_638-17257dup
XR_935210.3:n.638-17259_638-17257dup
NM_138340.5:c.555+2431_555+2433dup MANE Select	NP_612213.2:n.555+2431_555+2433dup
NM_001308256.2:c.509+20827_509+20829dup	NP_001295185.1:n.509+20827_509+20829dup