Canonical Allele Identifier: CA2289322374

Gene: ABHD3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681512_21681526delinsCCCAGCCTCCAGCCT , CM000680.2:g.21681512_21681526delinsCCCAGCCTCCAGCCT	GRCh38
NC_000018.9:g.19261473_19261487delinsCCCAGCCTCCAGCCT , CM000680.1:g.19261473_19261487delinsCCCAGCCTCCAGCCT	GRCh37
NC_000018.8:g.17515471_17515485delinsCCCAGCCTCCAGCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289119.7:c.555+2394_555+2408delinsAGGCTGGAGGCTGGG MANE Select	ENSP00000289119.2:n.555+2394_555+2408delinsAGGCTGGAGGCTGGG
ENST00000289119.6:c.555+2394_555+2408delinsAGGCTGGAGGCTGGG	ENSP00000289119.2:n.555+2394_555+2408delinsAGGCTGGAGGCTGGG
ENST00000577891.1:c.*74+2394_*74+2408delinsAGGCTGGAGGCTGGG	ENSP00000463365.1:n.*74+2394_*74+2408delinsAGGCTGGAGGCTGGG
ENST00000578270.5:c.-471+2394_-471+2408delinsAGGCTGGAGGCTGGG	ENSP00000462578.1:n.-471+2394_-471+2408delinsAGGCTGGAGGCTGGG
ENST00000579875.5:n.485-17296_485-17282delinsAGGCTGGAGGCTGGG
ENST00000580981.5:c.509+20790_509+20804delinsAGGCTGGAGGCTGGG	ENSP00000462935.1:n.509+20790_509+20804delinsAGGCTGGAGGCTGGG
NM_001308256.1:c.509+20790_509+20804delinsAGGCTGGAGGCTGGG	NP_001295185.1:n.509+20790_509+20804delinsAGGCTGGAGGCTGGG
NM_138340.4:c.555+2394_555+2408delinsAGGCTGGAGGCTGGG	NP_612213.2:n.555+2394_555+2408delinsAGGCTGGAGGCTGGG
XM_011525847.1:c.555+2394_555+2408delinsAGGCTGGAGGCTGGG	XP_011524149.1:n.555+2394_555+2408delinsAGGCTGGAGGCTGGG
XR_243847.1:n.695+2394_695+2408delinsAGGCTGGAGGCTGGG
XR_935209.1:n.650-17296_650-17282delinsAGGCTGGAGGCTGGG
XR_935210.1:n.650-17296_650-17282delinsAGGCTGGAGGCTGGG
XM_011525847.3:c.555+2394_555+2408delinsAGGCTGGAGGCTGGG	XP_011524149.1:n.555+2394_555+2408delinsAGGCTGGAGGCTGGG
XM_017025572.1:c.-470-17296_-470-17282delinsAGGCTGGAGGCTGGG	XP_016881061.1:n.-470-17296_-470-17282delinsAGGCTGGAGGCTGGG
XM_017025573.1:c.-471+647_-471+661delinsAGGCTGGAGGCTGGG	XP_016881062.1:n.-471+647_-471+661delinsAGGCTGGAGGCTGGG
XM_017025574.1:c.-471+235_-471+249delinsAGGCTGGAGGCTGGG	XP_016881063.1:n.-471+235_-471+249delinsAGGCTGGAGGCTGGG
XM_024451094.1:c.-471+2394_-471+2408delinsAGGCTGGAGGCTGGG	XP_024306862.1:n.-471+2394_-471+2408delinsAGGCTGGAGGCTGGG
XR_001753151.2:n.683+2394_683+2408delinsAGGCTGGAGGCTGGG
XR_002958165.1:n.683+2394_683+2408delinsAGGCTGGAGGCTGGG
XR_935209.3:n.638-17296_638-17282delinsAGGCTGGAGGCTGGG
XR_935210.3:n.638-17296_638-17282delinsAGGCTGGAGGCTGGG
NM_138340.5:c.555+2394_555+2408delinsAGGCTGGAGGCTGGG MANE Select	NP_612213.2:n.555+2394_555+2408delinsAGGCTGGAGGCTGGG
NM_001308256.2:c.509+20790_509+20804delinsAGGCTGGAGGCTGGG	NP_001295185.1:n.509+20790_509+20804delinsAGGCTGGAGGCTGGG