Canonical Allele Identifier: CA2530883975

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717792_43717794del , CM000665.2:g.43717792_43717794del	GRCh38
NC_000003.11:g.43759284_43759286del , CM000665.1:g.43759284_43759286del	GRCh37
NC_000003.10:g.43734288_43734290del	NCBI36
NG_007090.3:g.31910_31912del
NG_007090.5:g.31923_31925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.294_296del
ENST00000454293.2:c.772_774del	ENSP00000412014.2:p.Cys258del
ENST00000458276.7:c.774-651_774-649del	ENSP00000390849.3:n.774-651_774-649del
ENST00000463153.2:c.122_124del
ENST00000642351.1:c.772_774del	ENSP00000494478.1:p.Cys258del
ENST00000643140.1:c.*257_*259del	ENSP00000495588.1:n.*257_*259del
ENST00000643477.1:c.*356_*358del	ENSP00000496220.1:n.*356_*358del
ENST00000643500.1:c.*96_*98del	ENSP00000494735.1:n.*96_*98del
ENST00000643520.1:n.1061_1063del
ENST00000644371.2:c.895_897del MANE Select	ENSP00000495778.1:p.Cys299del
ENST00000646378.1:c.*945_*947del	ENSP00000495826.1:n.*945_*947del
ENST00000646799.1:c.*248-651_*248-649del	ENSP00000494829.1:n.*248-651_*248-649del
ENST00000649763.1:c.895_897del	ENSP00000497701.1:p.Cys299del
ENST00000413300.1:c.296_298del	ENSP00000392159.1:p.Leu99del
ENST00000458276.6:c.895_897del	ENSP00000390849.2:p.Cys299del
ENST00000463153.1:n.125_127del
NM_016006.4:c.895_897del	NP_057090.2:p.Cys299del
XM_011533779.1:c.772_774del	XP_011532081.1:p.Cys258del
XM_011533780.1:c.774-651_774-649del	XP_011532082.1:n.774-651_774-649del
XR_940447.1:n.840_842del
NM_001355186.1:c.895_897del	NP_001342115.1:p.Cys299del
NM_001365649.1:c.772_774del	NP_001352578.1:p.Cys258del
NM_001365650.1:c.774-651_774-649del	NP_001352579.1:n.774-651_774-649del
NM_016006.5:c.895_897del	NP_057090.2:p.Cys299del
NR_158560.1:n.906_908del
NM_001355186.2:c.895_897del	NP_001342115.1:p.Cys299del
NM_016006.6:c.895_897del MANE Select	NP_057090.2:p.Cys299del