Canonical Allele Identifier: CA1360918525

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720887_43720890delinsTTTC , CM000665.2:g.43720887_43720890delinsTTTC	GRCh38
NC_000003.11:g.43762379_43762382delinsTTTC , CM000665.1:g.43762379_43762382delinsTTTC	GRCh37
NC_000003.10:g.43737383_43737386delinsTTTC	NCBI36
NG_007090.3:g.35005_35008delinsTTTC
NG_007090.5:g.35018_35021delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2326_*29+2329delinsTTTC	ENSP00000412014.2:n.*29+2326_*29+2329delinsTTTC
ENST00000463153.2:c.306+2326_306+2329delinsTTTC
ENST00000644371.2:c.*2355_*2358delinsTTTC MANE Select	ENSP00000495778.1:n.*2355_*2358delinsTTTC
ENST00000649763.1:c.*29+2326_*29+2329delinsTTTC	ENSP00000497701.1:n.*29+2326_*29+2329delinsTTTC
ENST00000463153.1:n.309+2326_309+2329delinsTTTC
NM_016006.4:c.*2355_*2358delinsTTTC	NP_057090.2:n.*2355_*2358delinsTTTC
XM_011533779.1:c.*2355_*2358delinsTTTC	XP_011532081.1:n.*2355_*2358delinsTTTC
XM_011533780.1:c.*2381_*2384delinsTTTC	XP_011532082.1:n.*2381_*2384delinsTTTC
XR_940447.1:n.3350_3353delinsTTTC
NM_001355186.1:c.*29+2326_*29+2329delinsTTTC	NP_001342115.1:n.*29+2326_*29+2329delinsTTTC
NM_001365649.1:c.*2355_*2358delinsTTTC	NP_001352578.1:n.*2355_*2358delinsTTTC
NM_001365650.1:c.*2381_*2384delinsTTTC	NP_001352579.1:n.*2381_*2384delinsTTTC
NM_016006.5:c.*2355_*2358delinsTTTC	NP_057090.2:n.*2355_*2358delinsTTTC
NR_158560.1:n.3416_3419delinsTTTC
NM_001355186.2:c.*29+2326_*29+2329delinsTTTC	NP_001342115.1:n.*29+2326_*29+2329delinsTTTC
NM_016006.6:c.*2355_*2358delinsTTTC MANE Select	NP_057090.2:n.*2355_*2358delinsTTTC