Canonical Allele Identifier: CA1360907903
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43699398_43699400delinsACT , CM000665.2:g.43699398_43699400delinsACT GRCh38
NC_000003.11:g.43740890_43740892delinsACT , CM000665.1:g.43740890_43740892delinsACT GRCh37
NC_000003.10:g.43715894_43715896delinsACT NCBI36
NG_007090.3:g.13516_13518delinsACT
NG_007090.5:g.13529_13531delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000013894.3:c.133+37_133+39delinsACT ENSP00000013894.2:n.133+37_133+39delinsACT
ENST00000454293.2:c.10+37_10+39delinsACT ENSP00000412014.2:n.10+37_10+39delinsACT
ENST00000458276.7:c.133+37_133+39delinsACT ENSP00000390849.3:n.133+37_133+39delinsACT
ENST00000642351.1:c.10+37_10+39delinsACT ENSP00000494478.1:n.10+37_10+39delinsACT
ENST00000643140.1:c.133+37_133+39delinsACT ENSP00000495588.1:n.133+37_133+39delinsACT
ENST00000643477.1:c.133+37_133+39delinsACT ENSP00000496220.1:n.133+37_133+39delinsACT
ENST00000643500.1:c.133+37_133+39delinsACT ENSP00000494735.1:n.133+37_133+39delinsACT
ENST00000643520.1:n.181+37_181+39delinsACT
ENST00000644371.2:c.133+37_133+39delinsACT MANE Select ENSP00000495778.1:n.133+37_133+39delinsACT
ENST00000646378.1:c.*183+37_*183+39delinsACT ENSP00000495826.1:n.*183+37_*183+39delinsACT
ENST00000646799.1:c.133+37_133+39delinsACT ENSP00000494829.1:n.133+37_133+39delinsACT
ENST00000649763.1:c.133+37_133+39delinsACT ENSP00000497701.1:n.133+37_133+39delinsACT
ENST00000013894.2:c.133+37_133+39delinsACT ENSP00000013894.2:n.133+37_133+39delinsACT
ENST00000454293.1:c.10+37_10+39delinsACT ENSP00000412014.1:n.10+37_10+39delinsACT
ENST00000456453.5:c.10+37_10+39delinsACT ENSP00000391582.1:n.10+37_10+39delinsACT
ENST00000458276.6:c.133+37_133+39delinsACT ENSP00000390849.2:n.133+37_133+39delinsACT
ENST00000486764.1:n.271_273delinsACT
NM_016006.4:c.133+37_133+39delinsACT NP_057090.2:n.133+37_133+39delinsACT
XM_011533779.1:c.10+37_10+39delinsACT XP_011532081.1:n.10+37_10+39delinsACT
XM_011533780.1:c.133+37_133+39delinsACT XP_011532082.1:n.133+37_133+39delinsACT
XR_940447.1:n.190+37_190+39delinsACT
NM_001355186.1:c.133+37_133+39delinsACT NP_001342115.1:n.133+37_133+39delinsACT
NM_001365649.1:c.10+37_10+39delinsACT NP_001352578.1:n.10+37_10+39delinsACT
NM_001365650.1:c.133+37_133+39delinsACT NP_001352579.1:n.133+37_133+39delinsACT
NM_016006.5:c.133+37_133+39delinsACT NP_057090.2:n.133+37_133+39delinsACT
NR_158560.1:n.256+37_256+39delinsACT
NM_001355186.2:c.133+37_133+39delinsACT NP_001342115.1:n.133+37_133+39delinsACT
NM_016006.6:c.133+37_133+39delinsACT MANE Select NP_057090.2:n.133+37_133+39delinsACT