Canonical Allele Identifier: CA2665309688

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43699332-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699333_43699334del , CM000665.2:g.43699333_43699334del	GRCh38
NC_000003.11:g.43740825_43740826del , CM000665.1:g.43740825_43740826del	GRCh37
NC_000003.10:g.43715829_43715830del	NCBI36
NG_007090.3:g.13451_13452del
NG_007090.5:g.13464_13465del

Transcript Alleles

HGVS	Amino-acid change
ENST00000013894.3:c.105_106del	ENSP00000013894.2:p.Lys36ArgfsTer3
ENST00000454293.2:c.-19_-18del	ENSP00000412014.2:n.-19_-18del
ENST00000458276.7:c.105_106del	ENSP00000390849.3:p.Lys36ArgfsTer3
ENST00000642351.1:c.-19_-18del	ENSP00000494478.1:n.-19_-18del
ENST00000643140.1:c.105_106del	ENSP00000495588.1:p.Lys36ArgfsTer3
ENST00000643477.1:c.105_106del	ENSP00000496220.1:p.Lys36ArgfsTer3
ENST00000643500.1:c.105_106del	ENSP00000494735.1:p.Lys36ArgfsTer3
ENST00000643520.1:n.153_154del
ENST00000644371.2:c.105_106del MANE Select	ENSP00000495778.1:p.Lys36ArgfsTer3
ENST00000646378.1:c.*155_*156del	ENSP00000495826.1:n.*155_*156del
ENST00000646799.1:c.105_106del	ENSP00000494829.1:p.Lys36ArgfsTer3
ENST00000649763.1:c.105_106del	ENSP00000497701.1:p.Lys36ArgfsTer3
ENST00000013894.2:c.105_106del	ENSP00000013894.2:p.Lys36ArgfsTer3
ENST00000454293.1:c.-19_-18del	ENSP00000412014.1:n.-19_-18del
ENST00000456453.5:c.-19_-18del	ENSP00000391582.1:n.-19_-18del
ENST00000458276.6:c.105_106del	ENSP00000390849.2:p.Lys36ArgfsTer3
ENST00000486764.1:n.206_207del
NM_016006.4:c.105_106del	NP_057090.2:p.Lys36ArgfsTer3
XM_011533779.1:c.-19_-18del	XP_011532081.1:n.-19_-18del
XM_011533780.1:c.105_106del	XP_011532082.1:p.Lys36ArgfsTer3
XR_940447.1:n.162_163del
NM_001355186.1:c.105_106del	NP_001342115.1:p.Lys36ArgfsTer3
NM_001365649.1:c.-19_-18del	NP_001352578.1:n.-19_-18del
NM_001365650.1:c.105_106del	NP_001352579.1:p.Lys36ArgfsTer3
NM_016006.5:c.105_106del	NP_057090.2:p.Lys36ArgfsTer3
NR_158560.1:n.228_229del
NM_001355186.2:c.105_106del	NP_001342115.1:p.Lys36ArgfsTer3
NM_016006.6:c.105_106del MANE Select	NP_057090.2:p.Lys36ArgfsTer3