Canonical Allele Identifier: CA1360909820

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084511460

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699334_43699336del , CM000665.2:g.43699334_43699336del	GRCh38
NC_000003.11:g.43740826_43740828del , CM000665.1:g.43740826_43740828del	GRCh37
NC_000003.10:g.43715830_43715832del	NCBI36
NG_007090.3:g.13452_13454del
NG_007090.5:g.13465_13467del

Transcript Alleles

HGVS	Amino-acid change
ENST00000013894.3:c.106_108del	ENSP00000013894.2:p.Lys36del
ENST00000454293.2:c.-18_-16del	ENSP00000412014.2:n.-18_-16del
ENST00000458276.7:c.106_108del	ENSP00000390849.3:p.Lys36del
ENST00000642351.1:c.-18_-16del	ENSP00000494478.1:n.-18_-16del
ENST00000643140.1:c.106_108del	ENSP00000495588.1:p.Lys36del
ENST00000643477.1:c.106_108del	ENSP00000496220.1:p.Lys36del
ENST00000643500.1:c.106_108del	ENSP00000494735.1:p.Lys36del
ENST00000643520.1:n.154_156del
ENST00000644371.2:c.106_108del MANE Select	ENSP00000495778.1:p.Lys36del
ENST00000646378.1:c.*156_*158del	ENSP00000495826.1:n.*156_*158del
ENST00000646799.1:c.106_108del	ENSP00000494829.1:p.Lys36del
ENST00000649763.1:c.106_108del	ENSP00000497701.1:p.Lys36del
ENST00000013894.2:c.106_108del	ENSP00000013894.2:p.Lys36del
ENST00000454293.1:c.-18_-16del	ENSP00000412014.1:n.-18_-16del
ENST00000456453.5:c.-18_-16del	ENSP00000391582.1:n.-18_-16del
ENST00000458276.6:c.106_108del	ENSP00000390849.2:p.Lys36del
ENST00000486764.1:n.207_209del
NM_016006.4:c.106_108del	NP_057090.2:p.Lys36del
XM_011533779.1:c.-18_-16del	XP_011532081.1:n.-18_-16del
XM_011533780.1:c.106_108del	XP_011532082.1:p.Lys36del
XR_940447.1:n.163_165del
NM_001355186.1:c.106_108del	NP_001342115.1:p.Lys36del
NM_001365649.1:c.-18_-16del	NP_001352578.1:n.-18_-16del
NM_001365650.1:c.106_108del	NP_001352579.1:p.Lys36del
NM_016006.5:c.106_108del	NP_057090.2:p.Lys36del
NR_158560.1:n.229_231del
NM_001355186.2:c.106_108del	NP_001342115.1:p.Lys36del
NM_016006.6:c.106_108del MANE Select	NP_057090.2:p.Lys36del