Canonical Allele Identifier: CA2665309650

Gene: ABHD5

Linked Data

• dbSNP Id: rs2149593928
• gnomAD v4: 3-43699195-CCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699199_43699202del , CM000665.2:g.43699199_43699202del	GRCh38
NC_000003.11:g.43740691_43740694del , CM000665.1:g.43740691_43740694del	GRCh37
NC_000003.10:g.43715695_43715698del	NCBI36
NG_007090.3:g.13317_13320del
NG_007090.5:g.13330_13333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.48-77_48-74del	ENSP00000013894.2:n.48-77_48-74del
ENST00000454293.2:c.-76-77_-76-74del	ENSP00000412014.2:n.-76-77_-76-74del
ENST00000458276.7:c.48-77_48-74del	ENSP00000390849.3:n.48-77_48-74del
ENST00000642351.1:c.-76-77_-76-74del	ENSP00000494478.1:n.-76-77_-76-74del
ENST00000643140.1:c.48-77_48-74del	ENSP00000495588.1:n.48-77_48-74del
ENST00000643477.1:c.48-77_48-74del	ENSP00000496220.1:n.48-77_48-74del
ENST00000643500.1:c.48-77_48-74del	ENSP00000494735.1:n.48-77_48-74del
ENST00000643520.1:n.96-77_96-74del
ENST00000644371.2:c.48-77_48-74del MANE Select	ENSP00000495778.1:n.48-77_48-74del
ENST00000646378.1:c.*98-77_*98-74del	ENSP00000495826.1:n.*98-77_*98-74del
ENST00000646799.1:c.48-77_48-74del	ENSP00000494829.1:n.48-77_48-74del
ENST00000649763.1:c.48-77_48-74del	ENSP00000497701.1:n.48-77_48-74del
ENST00000013894.2:c.48-77_48-74del	ENSP00000013894.2:n.48-77_48-74del
ENST00000454293.1:c.-76-77_-76-74del	ENSP00000412014.1:n.-76-77_-76-74del
ENST00000456453.5:c.-76-77_-76-74del	ENSP00000391582.1:n.-76-77_-76-74del
ENST00000458276.6:c.48-77_48-74del	ENSP00000390849.2:n.48-77_48-74del
ENST00000486764.1:n.149-77_149-74del
NM_016006.4:c.48-77_48-74del	NP_057090.2:n.48-77_48-74del
XM_011533779.1:c.-76-77_-76-74del	XP_011532081.1:n.-76-77_-76-74del
XM_011533780.1:c.48-77_48-74del	XP_011532082.1:n.48-77_48-74del
XR_940447.1:n.105-77_105-74del
NM_001355186.1:c.48-77_48-74del	NP_001342115.1:n.48-77_48-74del
NM_001365649.1:c.-76-77_-76-74del	NP_001352578.1:n.-76-77_-76-74del
NM_001365650.1:c.48-77_48-74del	NP_001352579.1:n.48-77_48-74del
NM_016006.5:c.48-77_48-74del	NP_057090.2:n.48-77_48-74del
NR_158560.1:n.171-77_171-74del
NM_001355186.2:c.48-77_48-74del	NP_001342115.1:n.48-77_48-74del
NM_016006.6:c.48-77_48-74del MANE Select	NP_057090.2:n.48-77_48-74del