Canonical Allele Identifier: CA1360907904

Gene: ABHD5

Linked Data

• dbSNP Id: rs2084512198
• gnomAD v4: 3-43699398-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699399_43699400del , CM000665.2:g.43699399_43699400del	GRCh38
NC_000003.11:g.43740891_43740892del , CM000665.1:g.43740891_43740892del	GRCh37
NC_000003.10:g.43715895_43715896del	NCBI36
NG_007090.3:g.13517_13518del
NG_007090.5:g.13530_13531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.133+38_133+39del	ENSP00000013894.2:n.133+38_133+39del
ENST00000454293.2:c.10+38_10+39del	ENSP00000412014.2:n.10+38_10+39del
ENST00000458276.7:c.133+38_133+39del	ENSP00000390849.3:n.133+38_133+39del
ENST00000642351.1:c.10+38_10+39del	ENSP00000494478.1:n.10+38_10+39del
ENST00000643140.1:c.133+38_133+39del	ENSP00000495588.1:n.133+38_133+39del
ENST00000643477.1:c.133+38_133+39del	ENSP00000496220.1:n.133+38_133+39del
ENST00000643500.1:c.133+38_133+39del	ENSP00000494735.1:n.133+38_133+39del
ENST00000643520.1:n.181+38_181+39del
ENST00000644371.2:c.133+38_133+39del MANE Select	ENSP00000495778.1:n.133+38_133+39del
ENST00000646378.1:c.*183+38_*183+39del	ENSP00000495826.1:n.*183+38_*183+39del
ENST00000646799.1:c.133+38_133+39del	ENSP00000494829.1:n.133+38_133+39del
ENST00000649763.1:c.133+38_133+39del	ENSP00000497701.1:n.133+38_133+39del
ENST00000013894.2:c.133+38_133+39del	ENSP00000013894.2:n.133+38_133+39del
ENST00000454293.1:c.10+38_10+39del	ENSP00000412014.1:n.10+38_10+39del
ENST00000456453.5:c.10+38_10+39del	ENSP00000391582.1:n.10+38_10+39del
ENST00000458276.6:c.133+38_133+39del	ENSP00000390849.2:n.133+38_133+39del
ENST00000486764.1:n.272_273del
NM_016006.4:c.133+38_133+39del	NP_057090.2:n.133+38_133+39del
XM_011533779.1:c.10+38_10+39del	XP_011532081.1:n.10+38_10+39del
XM_011533780.1:c.133+38_133+39del	XP_011532082.1:n.133+38_133+39del
XR_940447.1:n.190+38_190+39del
NM_001355186.1:c.133+38_133+39del	NP_001342115.1:n.133+38_133+39del
NM_001365649.1:c.10+38_10+39del	NP_001352578.1:n.10+38_10+39del
NM_001365650.1:c.133+38_133+39del	NP_001352579.1:n.133+38_133+39del
NM_016006.5:c.133+38_133+39del	NP_057090.2:n.133+38_133+39del
NR_158560.1:n.256+38_256+39del
NM_001355186.2:c.133+38_133+39del	NP_001342115.1:n.133+38_133+39del
NM_016006.6:c.133+38_133+39del MANE Select	NP_057090.2:n.133+38_133+39del