Canonical Allele Identifier: CA777553403

Gene: ABHD3

Linked Data

• dbSNP Id: rs995735680
• MyVariant Identifiers: chr18:g.19261474_19261480del (hg19) ; chr18:g.21681513_21681519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681529_21681535del , CM000680.2:g.21681529_21681535del	GRCh38
NC_000018.9:g.19261490_19261496del , CM000680.1:g.19261490_19261496del	GRCh37
NC_000018.8:g.17515488_17515494del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000289119.7:c.555+2401_555+2407del MANE Select	ENSP00000289119.2:n.555+2401_555+2407del
ENST00000289119.6:c.555+2401_555+2407del	ENSP00000289119.2:n.555+2401_555+2407del
ENST00000577891.1:c.*74+2401_*74+2407del	ENSP00000463365.1:n.*74+2401_*74+2407del
ENST00000578270.5:c.-471+2401_-471+2407del	ENSP00000462578.1:n.-471+2401_-471+2407de...
ENST00000579875.5:n.485-17289_485-17283del
ENST00000580981.5:c.509+20797_509+20803del	ENSP00000462935.1:n.509+20797_509+20803de...
NM_001308256.1:c.509+20797_509+20803del	NP_001295185.1:n.509+20797_509+20803del
NM_138340.4:c.555+2401_555+2407del	NP_612213.2:n.555+2401_555+2407del
XM_011525847.1:c.555+2401_555+2407del	XP_011524149.1:n.555+2401_555+2407del
XR_243847.1:n.695+2401_695+2407del
XR_935209.1:n.650-17289_650-17283del
XR_935210.1:n.650-17289_650-17283del
XM_011525847.3:c.555+2401_555+2407del	XP_011524149.1:n.555+2401_555+2407del
XM_017025572.1:c.-470-17289_-470-17283del	XP_016881061.1:n.-470-17289_-470-17283del...
XM_017025573.1:c.-471+654_-471+660del	XP_016881062.1:n.-471+654_-471+660del
XM_017025574.1:c.-471+242_-471+248del	XP_016881063.1:n.-471+242_-471+248del
XM_024451094.1:c.-471+2401_-471+2407del	XP_024306862.1:n.-471+2401_-471+2407del
XR_001753151.2:n.683+2401_683+2407del
XR_002958165.1:n.683+2401_683+2407del
XR_935209.3:n.638-17289_638-17283del
XR_935210.3:n.638-17289_638-17283del
NM_138340.5:c.555+2401_555+2407del MANE Select	NP_612213.2:n.555+2401_555+2407del
NM_001308256.2:c.509+20797_509+20803del	NP_001295185.1:n.509+20797_509+20803del