Canonical Allele Identifier: CA2289322384

Gene: ABHD3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681547_21681551delinsCTCTT , CM000680.2:g.21681547_21681551delinsCTCTT	GRCh38
NC_000018.9:g.19261508_19261512delinsCTCTT , CM000680.1:g.19261508_19261512delinsCTCTT	GRCh37
NC_000018.8:g.17515506_17515510delinsCTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289119.7:c.555+2369_555+2373delinsAAGAG MANE Select	ENSP00000289119.2:n.555+2369_555+2373delinsAAGAG
ENST00000289119.6:c.555+2369_555+2373delinsAAGAG	ENSP00000289119.2:n.555+2369_555+2373delinsAAGAG
ENST00000577891.1:c.*74+2369_*74+2373delinsAAGAG	ENSP00000463365.1:n.*74+2369_*74+2373delinsAAGAG
ENST00000578270.5:c.-471+2369_-471+2373delinsAAGAG	ENSP00000462578.1:n.-471+2369_-471+2373delinsAAGAG
ENST00000579875.5:n.485-17321_485-17317delinsAAGAG
ENST00000580981.5:c.509+20765_509+20769delinsAAGAG	ENSP00000462935.1:n.509+20765_509+20769delinsAAGAG
NM_001308256.1:c.509+20765_509+20769delinsAAGAG	NP_001295185.1:n.509+20765_509+20769delinsAAGAG
NM_138340.4:c.555+2369_555+2373delinsAAGAG	NP_612213.2:n.555+2369_555+2373delinsAAGAG
XM_011525847.1:c.555+2369_555+2373delinsAAGAG	XP_011524149.1:n.555+2369_555+2373delinsAAGAG
XR_243847.1:n.695+2369_695+2373delinsAAGAG
XR_935209.1:n.650-17321_650-17317delinsAAGAG
XR_935210.1:n.650-17321_650-17317delinsAAGAG
XM_011525847.3:c.555+2369_555+2373delinsAAGAG	XP_011524149.1:n.555+2369_555+2373delinsAAGAG
XM_017025572.1:c.-470-17321_-470-17317delinsAAGAG	XP_016881061.1:n.-470-17321_-470-17317delinsAAGAG
XM_017025573.1:c.-471+622_-471+626delinsAAGAG	XP_016881062.1:n.-471+622_-471+626delinsAAGAG
XM_017025574.1:c.-471+210_-471+214delinsAAGAG	XP_016881063.1:n.-471+210_-471+214delinsAAGAG
XM_024451094.1:c.-471+2369_-471+2373delinsAAGAG	XP_024306862.1:n.-471+2369_-471+2373delinsAAGAG
XR_001753151.2:n.683+2369_683+2373delinsAAGAG
XR_002958165.1:n.683+2369_683+2373delinsAAGAG
XR_935209.3:n.638-17321_638-17317delinsAAGAG
XR_935210.3:n.638-17321_638-17317delinsAAGAG
NM_138340.5:c.555+2369_555+2373delinsAAGAG MANE Select	NP_612213.2:n.555+2369_555+2373delinsAAGAG
NM_001308256.2:c.509+20765_509+20769delinsAAGAG	NP_001295185.1:n.509+20765_509+20769delinsAAGAG