Canonical Allele Identifier: CA2665311531

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43720490-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720492del , CM000665.2:g.43720492del	GRCh38
NC_000003.11:g.43761984del , CM000665.1:g.43761984del	GRCh37
NC_000003.10:g.43736988del	NCBI36
NG_007090.3:g.34610del
NG_007090.5:g.34623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1931del	ENSP00000412014.2:n.*29+1931del
ENST00000463153.2:c.306+1931del
ENST00000643477.1:c.*2471del	ENSP00000496220.1:n.*2471del
ENST00000644371.2:c.*1960del MANE Select	ENSP00000495778.1:n.*1960del
ENST00000649763.1:c.*29+1931del	ENSP00000497701.1:n.*29+1931del
ENST00000463153.1:n.309+1931del
NM_016006.4:c.*1960del	NP_057090.2:n.*1960del
XM_011533779.1:c.*1960del	XP_011532081.1:n.*1960del
XM_011533780.1:c.*1986del	XP_011532082.1:n.*1986del
XR_940447.1:n.2955del
NM_001355186.1:c.*29+1931del	NP_001342115.1:n.*29+1931del
NM_001365649.1:c.*1960del	NP_001352578.1:n.*1960del
NM_001365650.1:c.*1986del	NP_001352579.1:n.*1986del
NM_016006.5:c.*1960del	NP_057090.2:n.*1960del
NR_158560.1:n.3021del
NM_001355186.2:c.*29+1931del	NP_001342115.1:n.*29+1931del
NM_016006.6:c.*1960del MANE Select	NP_057090.2:n.*1960del