Canonical Allele Identifier: CA2573131830

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717795_43718852del , CM000665.2:g.43717795_43718852del	GRCh38
NC_000003.11:g.43759287_43760344del , CM000665.1:g.43759287_43760344del	GRCh37
NC_000003.10:g.43734291_43735348del	NCBI36
NG_007090.3:g.31913_32970del
NG_007090.5:g.31926_32983del

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.775_*29+291del
ENST00000463153.2:c.125_306+291del
ENST00000642351.1:c.775_*320del
ENST00000643140.1:c.*260_*732del
ENST00000643477.1:c.*359_*831del
ENST00000643520.1:n.1064_1536del
ENST00000644371.2:c.898_*320del
ENST00000646378.1:c.*948_*1420del
ENST00000646799.1:c.*248-648_*657del
ENST00000649763.1:c.898_*29+291del
ENST00000458276.6:c.898_*320del
ENST00000463153.1:n.128_309+291del
NM_016006.4:c.898_*320del
XM_011533779.1:c.775_*320del
XM_011533780.1:c.774-648_*346del
XR_940447.1:n.843_1315del
NM_001355186.1:c.898_*29+291del
NM_001365649.1:c.775_*320del
NM_001365650.1:c.774-648_*346del
NM_016006.5:c.898_*320del
NR_158560.1:n.909_1381del
NM_001355186.2:c.898_*29+291del
NM_016006.6:c.898_*320del