Canonical Allele Identifier: CA2289322345
Gene: ABHD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21681446_21681450delinsCCCCT , CM000680.2:g.21681446_21681450delinsCCCCT GRCh38
NC_000018.9:g.19261407_19261411delinsCCCCT , CM000680.1:g.19261407_19261411delinsCCCCT GRCh37
NC_000018.8:g.17515405_17515409delinsCCCCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289119.7:c.555+2470_555+2474delinsAGGGG MANE Select ENSP00000289119.2:n.555+2470_555+2474delinsAGGGG
ENST00000289119.6:c.555+2470_555+2474delinsAGGGG ENSP00000289119.2:n.555+2470_555+2474delinsAGGGG
ENST00000577891.1:c.*74+2470_*74+2474delinsAGGGG ENSP00000463365.1:n.*74+2470_*74+2474delinsAGGGG
ENST00000578270.5:c.-471+2470_-471+2474delinsAGGGG ENSP00000462578.1:n.-471+2470_-471+2474delinsAGGGG
ENST00000579875.5:n.485-17220_485-17216delinsAGGGG
ENST00000580981.5:c.509+20866_509+20870delinsAGGGG ENSP00000462935.1:n.509+20866_509+20870delinsAGGGG
NM_001308256.1:c.509+20866_509+20870delinsAGGGG NP_001295185.1:n.509+20866_509+20870delinsAGGGG
NM_138340.4:c.555+2470_555+2474delinsAGGGG NP_612213.2:n.555+2470_555+2474delinsAGGGG
XM_011525847.1:c.555+2470_555+2474delinsAGGGG XP_011524149.1:n.555+2470_555+2474delinsAGGGG
XR_243847.1:n.695+2470_695+2474delinsAGGGG
XR_935209.1:n.650-17220_650-17216delinsAGGGG
XR_935210.1:n.650-17220_650-17216delinsAGGGG
XM_011525847.3:c.555+2470_555+2474delinsAGGGG XP_011524149.1:n.555+2470_555+2474delinsAGGGG
XM_017025572.1:c.-470-17220_-470-17216delinsAGGGG XP_016881061.1:n.-470-17220_-470-17216delinsAGGGG
XM_017025573.1:c.-471+723_-471+727delinsAGGGG XP_016881062.1:n.-471+723_-471+727delinsAGGGG
XM_017025574.1:c.-471+311_-471+315delinsAGGGG XP_016881063.1:n.-471+311_-471+315delinsAGGGG
XM_024451094.1:c.-471+2470_-471+2474delinsAGGGG XP_024306862.1:n.-471+2470_-471+2474delinsAGGGG
XR_001753151.2:n.683+2470_683+2474delinsAGGGG
XR_002958165.1:n.683+2470_683+2474delinsAGGGG
XR_935209.3:n.638-17220_638-17216delinsAGGGG
XR_935210.3:n.638-17220_638-17216delinsAGGGG
NM_138340.5:c.555+2470_555+2474delinsAGGGG MANE Select NP_612213.2:n.555+2470_555+2474delinsAGGGG
NM_001308256.2:c.509+20866_509+20870delinsAGGGG NP_001295185.1:n.509+20866_509+20870delinsAGGGG