Canonical Allele Identifier: CA2665309686

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43699328-CACCTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699330_43699335del , CM000665.2:g.43699330_43699335del	GRCh38
NC_000003.11:g.43740822_43740827del , CM000665.1:g.43740822_43740827del	GRCh37
NC_000003.10:g.43715826_43715831del	NCBI36
NG_007090.3:g.13448_13453del
NG_007090.5:g.13461_13466del

Transcript Alleles

HGVS	Amino-acid change
ENST00000013894.3:c.102_107del	ENSP00000013894.2:p.His34_Lys36delinsGln
ENST00000454293.2:c.-22_-17del	ENSP00000412014.2:n.-22_-17del
ENST00000458276.7:c.102_107del	ENSP00000390849.3:p.His34_Lys36delinsGln
ENST00000642351.1:c.-22_-17del	ENSP00000494478.1:n.-22_-17del
ENST00000643140.1:c.102_107del	ENSP00000495588.1:p.His34_Lys36delinsGln
ENST00000643477.1:c.102_107del	ENSP00000496220.1:p.His34_Lys36delinsGln
ENST00000643500.1:c.102_107del	ENSP00000494735.1:p.His34_Lys36delinsGln
ENST00000643520.1:n.150_155del
ENST00000644371.2:c.102_107del MANE Select	ENSP00000495778.1:p.His34_Lys36delinsGln
ENST00000646378.1:c.*152_*157del	ENSP00000495826.1:n.*152_*157del
ENST00000646799.1:c.102_107del	ENSP00000494829.1:p.His34_Lys36delinsGln
ENST00000649763.1:c.102_107del	ENSP00000497701.1:p.His34_Lys36delinsGln
ENST00000013894.2:c.102_107del	ENSP00000013894.2:p.His34_Lys36delinsGln
ENST00000454293.1:c.-22_-17del	ENSP00000412014.1:n.-22_-17del
ENST00000456453.5:c.-22_-17del	ENSP00000391582.1:n.-22_-17del
ENST00000458276.6:c.102_107del	ENSP00000390849.2:p.His34_Lys36delinsGln
ENST00000486764.1:n.203_208del
NM_016006.4:c.102_107del	NP_057090.2:p.His34_Lys36delinsGln
XM_011533779.1:c.-22_-17del	XP_011532081.1:n.-22_-17del
XM_011533780.1:c.102_107del	XP_011532082.1:p.His34_Lys36delinsGln
XR_940447.1:n.159_164del
NM_001355186.1:c.102_107del	NP_001342115.1:p.His34_Lys36delinsGln
NM_001365649.1:c.-22_-17del	NP_001352578.1:n.-22_-17del
NM_001365650.1:c.102_107del	NP_001352579.1:p.His34_Lys36delinsGln
NM_016006.5:c.102_107del	NP_057090.2:p.His34_Lys36delinsGln
NR_158560.1:n.225_230del
NM_001355186.2:c.102_107del	NP_001342115.1:p.His34_Lys36delinsGln
NM_016006.6:c.102_107del MANE Select	NP_057090.2:p.His34_Lys36delinsGln