Canonical Allele Identifier: CA2289322332
Gene: ABHD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.21681407_21681415delinsCCTTGAATA , CM000680.2:g.21681407_21681415delinsCCTTGAATA GRCh38
NC_000018.9:g.19261368_19261376delinsCCTTGAATA , CM000680.1:g.19261368_19261376delinsCCTTGAATA GRCh37
NC_000018.8:g.17515366_17515374delinsCCTTGAATA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000289119.7:c.555+2505_555+2513delinsTATTCAAGG MANE Select ENSP00000289119.2:n.555+2505_555+2513deli...
ENST00000289119.6:c.555+2505_555+2513delinsTATTCAAGG ENSP00000289119.2:n.555+2505_555+2513deli...
ENST00000577891.1:c.*74+2505_*74+2513delinsTATTCAAGG ENSP00000463365.1:n.*74+2505_*74+2513deli...
ENST00000578270.5:c.-471+2505_-471+2513delinsTATTCAAGG ENSP00000462578.1:n.-471+2505_-471+2513de...
ENST00000579875.5:n.485-17185_485-17177delinsTATTCAAGG
ENST00000580981.5:c.509+20901_509+20909delinsTATTCAAGG ENSP00000462935.1:n.509+20901_509+20909de...
NM_001308256.1:c.509+20901_509+20909delinsTATTCAAGG NP_001295185.1:n.509+20901_509+20909delin...
NM_138340.4:c.555+2505_555+2513delinsTATTCAAGG NP_612213.2:n.555+2505_555+2513delinsTATT...
XM_011525847.1:c.555+2505_555+2513delinsTATTCAAGG XP_011524149.1:n.555+2505_555+2513delinsT...
XR_243847.1:n.695+2505_695+2513delinsTATTCAAGG
XR_935209.1:n.650-17185_650-17177delinsTATTCAAGG
XR_935210.1:n.650-17185_650-17177delinsTATTCAAGG
XM_011525847.3:c.555+2505_555+2513delinsTATTCAAGG XP_011524149.1:n.555+2505_555+2513delinsT...
XM_017025572.1:c.-470-17185_-470-17177delinsTATTCAAGG XP_016881061.1:n.-470-17185_-470-17177del...
XM_017025573.1:c.-471+758_-471+766delinsTATTCAAGG XP_016881062.1:n.-471+758_-471+766delinsT...
XM_017025574.1:c.-471+346_-471+354delinsTATTCAAGG XP_016881063.1:n.-471+346_-471+354delinsT...
XM_024451094.1:c.-471+2505_-471+2513delinsTATTCAAGG XP_024306862.1:n.-471+2505_-471+2513delin...
XR_001753151.2:n.683+2505_683+2513delinsTATTCAAGG
XR_002958165.1:n.683+2505_683+2513delinsTATTCAAGG
XR_935209.3:n.638-17185_638-17177delinsTATTCAAGG
XR_935210.3:n.638-17185_638-17177delinsTATTCAAGG
NM_138340.5:c.555+2505_555+2513delinsTATTCAAGG MANE Select NP_612213.2:n.555+2505_555+2513delinsTATT...
NM_001308256.2:c.509+20901_509+20909delinsTATTCAAGG NP_001295185.1:n.509+20901_509+20909delin...