Canonical Allele Identifier: CA777553376

Gene: ABHD3

Linked Data

• dbSNP Id: rs1457208585
• MyVariant Identifiers: chr18:g.19261369_19261376del (hg19) ; chr18:g.21681408_21681415del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21681410_21681417del , CM000680.2:g.21681410_21681417del	GRCh38
NC_000018.9:g.19261371_19261378del , CM000680.1:g.19261371_19261378del	GRCh37
NC_000018.8:g.17515369_17515376del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289119.7:c.555+2505_555+2512del MANE Select	ENSP00000289119.2:n.555+2505_555+2512del
ENST00000289119.6:c.555+2505_555+2512del	ENSP00000289119.2:n.555+2505_555+2512del
ENST00000577891.1:c.*74+2505_*74+2512del	ENSP00000463365.1:n.*74+2505_*74+2512del
ENST00000578270.5:c.-471+2505_-471+2512del	ENSP00000462578.1:n.-471+2505_-471+2512del
ENST00000579875.5:n.485-17185_485-17178del
ENST00000580981.5:c.509+20901_509+20908del	ENSP00000462935.1:n.509+20901_509+20908del
NM_001308256.1:c.509+20901_509+20908del	NP_001295185.1:n.509+20901_509+20908del
NM_138340.4:c.555+2505_555+2512del	NP_612213.2:n.555+2505_555+2512del
XM_011525847.1:c.555+2505_555+2512del	XP_011524149.1:n.555+2505_555+2512del
XR_243847.1:n.695+2505_695+2512del
XR_935209.1:n.650-17185_650-17178del
XR_935210.1:n.650-17185_650-17178del
XM_011525847.3:c.555+2505_555+2512del	XP_011524149.1:n.555+2505_555+2512del
XM_017025572.1:c.-470-17185_-470-17178del	XP_016881061.1:n.-470-17185_-470-17178del
XM_017025573.1:c.-471+758_-471+765del	XP_016881062.1:n.-471+758_-471+765del
XM_017025574.1:c.-471+346_-471+353del	XP_016881063.1:n.-471+346_-471+353del
XM_024451094.1:c.-471+2505_-471+2512del	XP_024306862.1:n.-471+2505_-471+2512del
XR_001753151.2:n.683+2505_683+2512del
XR_002958165.1:n.683+2505_683+2512del
XR_935209.3:n.638-17185_638-17178del
XR_935210.3:n.638-17185_638-17178del
NM_138340.5:c.555+2505_555+2512del MANE Select	NP_612213.2:n.555+2505_555+2512del
NM_001308256.2:c.509+20901_509+20908del	NP_001295185.1:n.509+20901_509+20908del