Canonical Allele Identifier: CA1360918486

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084826769

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720820_43720823del , CM000665.2:g.43720820_43720823del	GRCh38
NC_000003.11:g.43762312_43762315del , CM000665.1:g.43762312_43762315del	GRCh37
NC_000003.10:g.43737316_43737319del	NCBI36
NG_007090.3:g.34938_34941del
NG_007090.5:g.34951_34954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2259_*29+2262del	ENSP00000412014.2:n.*29+2259_*29+2262del
ENST00000463153.2:c.306+2259_306+2262del
ENST00000644371.2:c.*2288_*2291del MANE Select	ENSP00000495778.1:n.*2288_*2291del
ENST00000649763.1:c.*29+2259_*29+2262del	ENSP00000497701.1:n.*29+2259_*29+2262del
ENST00000463153.1:n.309+2259_309+2262del
NM_016006.4:c.*2288_*2291del	NP_057090.2:n.*2288_*2291del
XM_011533779.1:c.*2288_*2291del	XP_011532081.1:n.*2288_*2291del
XM_011533780.1:c.*2314_*2317del	XP_011532082.1:n.*2314_*2317del
XR_940447.1:n.3283_3286del
NM_001355186.1:c.*29+2259_*29+2262del	NP_001342115.1:n.*29+2259_*29+2262del
NM_001365649.1:c.*2288_*2291del	NP_001352578.1:n.*2288_*2291del
NM_001365650.1:c.*2314_*2317del	NP_001352579.1:n.*2314_*2317del
NM_016006.5:c.*2288_*2291del	NP_057090.2:n.*2288_*2291del
NR_158560.1:n.3349_3352del
NM_001355186.2:c.*29+2259_*29+2262del	NP_001342115.1:n.*29+2259_*29+2262del
NM_016006.6:c.*2288_*2291del MANE Select	NP_057090.2:n.*2288_*2291del