Canonical Allele Identifier: CA1360918291

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084819706

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720374del , CM000665.2:g.43720374del	GRCh38
NC_000003.11:g.43761866del , CM000665.1:g.43761866del	GRCh37
NC_000003.10:g.43736870del	NCBI36
NG_007090.3:g.34492del
NG_007090.5:g.34505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+1813del	ENSP00000412014.2:n.*29+1813del
ENST00000463153.2:c.306+1813del
ENST00000643477.1:c.*2353del	ENSP00000496220.1:n.*2353del
ENST00000644371.2:c.*1842del MANE Select	ENSP00000495778.1:n.*1842del
ENST00000649763.1:c.*29+1813del	ENSP00000497701.1:n.*29+1813del
ENST00000463153.1:n.309+1813del
NM_016006.4:c.*1842del	NP_057090.2:n.*1842del
XM_011533779.1:c.*1842del	XP_011532081.1:n.*1842del
XM_011533780.1:c.*1868del	XP_011532082.1:n.*1868del
XR_940447.1:n.2837del
NM_001355186.1:c.*29+1813del	NP_001342115.1:n.*29+1813del
NM_001365649.1:c.*1842del	NP_001352578.1:n.*1842del
NM_001365650.1:c.*1868del	NP_001352579.1:n.*1868del
NM_016006.5:c.*1842del	NP_057090.2:n.*1842del
NR_158560.1:n.2903del
NM_001355186.2:c.*29+1813del	NP_001342115.1:n.*29+1813del
NM_016006.6:c.*1842del MANE Select	NP_057090.2:n.*1842del