Canonical Allele Identifier: CA2665309716

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43699432-AACTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699433_43699436del , CM000665.2:g.43699433_43699436del	GRCh38
NC_000003.11:g.43740925_43740928del , CM000665.1:g.43740925_43740928del	GRCh37
NC_000003.10:g.43715929_43715932del	NCBI36
NG_007090.3:g.13551_13554del
NG_007090.5:g.13564_13567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.134-69_134-66del	ENSP00000013894.2:n.134-69_134-66del
ENST00000454293.2:c.10+72_10+75del	ENSP00000412014.2:n.10+72_10+75del
ENST00000458276.7:c.133+72_133+75del	ENSP00000390849.3:n.133+72_133+75del
ENST00000642351.1:c.10+72_10+75del	ENSP00000494478.1:n.10+72_10+75del
ENST00000643140.1:c.133+72_133+75del	ENSP00000495588.1:n.133+72_133+75del
ENST00000643477.1:c.133+72_133+75del	ENSP00000496220.1:n.133+72_133+75del
ENST00000643500.1:c.133+72_133+75del	ENSP00000494735.1:n.133+72_133+75del
ENST00000643520.1:n.181+72_181+75del
ENST00000644371.2:c.133+72_133+75del MANE Select	ENSP00000495778.1:n.133+72_133+75del
ENST00000646378.1:c.*183+72_*183+75del	ENSP00000495826.1:n.*183+72_*183+75del
ENST00000646799.1:c.133+72_133+75del	ENSP00000494829.1:n.133+72_133+75del
ENST00000649763.1:c.133+72_133+75del	ENSP00000497701.1:n.133+72_133+75del
ENST00000013894.2:c.134-69_134-66del	ENSP00000013894.2:n.134-69_134-66del
ENST00000454293.1:c.10+72_10+75del	ENSP00000412014.1:n.10+72_10+75del
ENST00000456453.5:c.10+72_10+75del	ENSP00000391582.1:n.10+72_10+75del
ENST00000458276.6:c.133+72_133+75del	ENSP00000390849.2:n.133+72_133+75del
ENST00000486764.1:n.306_309del
NM_016006.4:c.133+72_133+75del	NP_057090.2:n.133+72_133+75del
XM_011533779.1:c.10+72_10+75del	XP_011532081.1:n.10+72_10+75del
XM_011533780.1:c.133+72_133+75del	XP_011532082.1:n.133+72_133+75del
XR_940447.1:n.190+72_190+75del
NM_001355186.1:c.133+72_133+75del	NP_001342115.1:n.133+72_133+75del
NM_001365649.1:c.10+72_10+75del	NP_001352578.1:n.10+72_10+75del
NM_001365650.1:c.133+72_133+75del	NP_001352579.1:n.133+72_133+75del
NM_016006.5:c.133+72_133+75del	NP_057090.2:n.133+72_133+75del
NR_158560.1:n.256+72_256+75del
NM_001355186.2:c.133+72_133+75del	NP_001342115.1:n.133+72_133+75del
NM_016006.6:c.133+72_133+75del MANE Select	NP_057090.2:n.133+72_133+75del