Canonical Allele Identifier: CA2561653904

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720656_43720667del , CM000665.2:g.43720656_43720667del	GRCh38
NC_000003.11:g.43762148_43762159del , CM000665.1:g.43762148_43762159del	GRCh37
NC_000003.10:g.43737152_43737163del	NCBI36
NG_007090.3:g.34774_34785del
NG_007090.5:g.34787_34798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2095_*29+2106del	ENSP00000412014.2:n.*29+2095_*29+2106del
ENST00000463153.2:c.306+2095_306+2106del
ENST00000643477.1:c.*2635_*2646del	ENSP00000496220.1:n.*2635_*2646del
ENST00000644371.2:c.*2124_*2135del MANE Select	ENSP00000495778.1:n.*2124_*2135del
ENST00000649763.1:c.*29+2095_*29+2106del	ENSP00000497701.1:n.*29+2095_*29+2106del
ENST00000463153.1:n.309+2095_309+2106del
NM_016006.4:c.*2124_*2135del	NP_057090.2:n.*2124_*2135del
XM_011533779.1:c.*2124_*2135del	XP_011532081.1:n.*2124_*2135del
XM_011533780.1:c.*2150_*2161del	XP_011532082.1:n.*2150_*2161del
XR_940447.1:n.3119_3130del
NM_001355186.1:c.*29+2095_*29+2106del	NP_001342115.1:n.*29+2095_*29+2106del
NM_001365649.1:c.*2124_*2135del	NP_001352578.1:n.*2124_*2135del
NM_001365650.1:c.*2150_*2161del	NP_001352579.1:n.*2150_*2161del
NM_016006.5:c.*2124_*2135del	NP_057090.2:n.*2124_*2135del
NR_158560.1:n.3185_3196del
NM_001355186.2:c.*29+2095_*29+2106del	NP_001342115.1:n.*29+2095_*29+2106del
NM_016006.6:c.*2124_*2135del MANE Select	NP_057090.2:n.*2124_*2135del