Canonical Allele Identifier: CA1360918523

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720885_43720895delinsGTTTTCTTCTT , CM000665.2:g.43720885_43720895delinsGTTTTCTTCTT	GRCh38
NC_000003.11:g.43762377_43762387delinsGTTTTCTTCTT , CM000665.1:g.43762377_43762387delinsGTTTTCTTCTT	GRCh37
NC_000003.10:g.43737381_43737391delinsGTTTTCTTCTT	NCBI36
NG_007090.3:g.35003_35013delinsGTTTTCTTCTT
NG_007090.5:g.35016_35026delinsGTTTTCTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2324_*29+2334delinsGTTTTCTTCTT	ENSP00000412014.2:n.*29+2324_*29+2334delinsGTTTTCTTCTT
ENST00000463153.2:c.306+2324_306+2334delinsGTTTTCTTCTT
ENST00000644371.2:c.*2353_*2363delinsGTTTTCTTCTT MANE Select	ENSP00000495778.1:n.*2353_*2363delinsGTTTTCTTCTT
ENST00000649763.1:c.*29+2324_*29+2334delinsGTTTTCTTCTT	ENSP00000497701.1:n.*29+2324_*29+2334delinsGTTTTCTTCTT
ENST00000463153.1:n.309+2324_309+2334delinsGTTTTCTTCTT
NM_016006.4:c.*2353_*2363delinsGTTTTCTTCTT	NP_057090.2:n.*2353_*2363delinsGTTTTCTTCTT
XM_011533779.1:c.*2353_*2363delinsGTTTTCTTCTT	XP_011532081.1:n.*2353_*2363delinsGTTTTCTTCTT
XM_011533780.1:c.*2379_*2389delinsGTTTTCTTCTT	XP_011532082.1:n.*2379_*2389delinsGTTTTCTTCTT
XR_940447.1:n.3348_3358delinsGTTTTCTTCTT
NM_001355186.1:c.*29+2324_*29+2334delinsGTTTTCTTCTT	NP_001342115.1:n.*29+2324_*29+2334delinsGTTTTCTTCTT
NM_001365649.1:c.*2353_*2363delinsGTTTTCTTCTT	NP_001352578.1:n.*2353_*2363delinsGTTTTCTTCTT
NM_001365650.1:c.*2379_*2389delinsGTTTTCTTCTT	NP_001352579.1:n.*2379_*2389delinsGTTTTCTTCTT
NM_016006.5:c.*2353_*2363delinsGTTTTCTTCTT	NP_057090.2:n.*2353_*2363delinsGTTTTCTTCTT
NR_158560.1:n.3414_3424delinsGTTTTCTTCTT
NM_001355186.2:c.*29+2324_*29+2334delinsGTTTTCTTCTT	NP_001342115.1:n.*29+2324_*29+2334delinsGTTTTCTTCTT
NM_016006.6:c.*2353_*2363delinsGTTTTCTTCTT MANE Select	NP_057090.2:n.*2353_*2363delinsGTTTTCTTCTT