Canonical Allele Identifier: CA117426
Gene: ABHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5352
ClinVar RCV Id: RCV000005681
dbSNP Id: rs387906335

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43711796dup , CM000665.2:g.43711796dup GRCh38
NC_000003.11:g.43753288dup , CM000665.1:g.43753288dup GRCh37
NC_000003.10:g.43728292dup NCBI36
NG_007090.3:g.25914dup
NG_007090.5:g.25927dup

Transcript Alleles

HGVS Amino-acid change
ENST00000013894.3:c.*588dup ENSP00000013894.2:n.*588dup
ENST00000413300.2:c.88dup
ENST00000454293.2:c.471dup ENSP00000412014.2:p.Arg158GlnfsTer11
ENST00000458276.7:c.594dup ENSP00000390849.3:p.Arg199GlnfsTer11
ENST00000642351.1:c.471dup ENSP00000494478.1:p.Arg158GlnfsTer11
ENST00000643140.1:c.*68dup ENSP00000495588.1:n.*68dup
ENST00000643477.1:c.*167dup ENSP00000496220.1:n.*167dup
ENST00000643500.1:c.594dup ENSP00000494735.1:p.Arg199GlnfsTer11
ENST00000643520.1:n.760dup
ENST00000644371.2:c.594dup MANE Select ENSP00000495778.1:p.Arg199GlnfsTer11
ENST00000646378.1:c.*644dup ENSP00000495826.1:n.*644dup
ENST00000646799.1:c.*68dup ENSP00000494829.1:n.*68dup
ENST00000649763.1:c.594dup ENSP00000497701.1:p.Arg199GlnfsTer11
ENST00000013894.2:c.*588dup ENSP00000013894.2:n.*588dup
ENST00000413300.1:c.90dup ENSP00000392159.1:p.Arg31GlnfsTer11
ENST00000458276.6:c.594dup ENSP00000390849.2:p.Arg199GlnfsTer11
NM_016006.4:c.594dup NP_057090.2:p.Arg199GlnfsTer11
XM_011533779.1:c.471dup XP_011532081.1:p.Arg158GlnfsTer11
XM_011533780.1:c.594dup XP_011532082.1:p.Arg199GlnfsTer11
XR_940447.1:n.651dup
NM_001355186.1:c.594dup NP_001342115.1:p.Arg199GlnfsTer11
NM_001365649.1:c.471dup NP_001352578.1:p.Arg158GlnfsTer11
NM_001365650.1:c.594dup NP_001352579.1:p.Arg199GlnfsTer11
NM_016006.5:c.594dup NP_057090.2:p.Arg199GlnfsTer11
NR_158560.1:n.717dup
NM_001355186.2:c.594dup NP_001342115.1:p.Arg199GlnfsTer11
NM_016006.6:c.594dup MANE Select NP_057090.2:p.Arg199GlnfsTer11