Canonical Allele Identifier: CA2341491

Gene: ABHD5

Linked Data

• dbSNP Id: rs763361774
• ExAC: 3:43759275 G / GC
• gnomAD v2: 3-43759275-G-GC
• gnomAD v4: 3-43717783-G-GC
• MyVariant Identifiers: chr3:g.43759275_43759276insC (hg19) ; chr3:g.43717783_43717784insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717786dup , CM000665.2:g.43717786dup	GRCh38
NC_000003.11:g.43759278dup , CM000665.1:g.43759278dup	GRCh37
NC_000003.10:g.43734282dup	NCBI36
NG_007090.3:g.31904dup
NG_007090.5:g.31917dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.288dup
ENST00000454293.2:c.766dup	ENSP00000412014.2:p.Arg256ProfsTer?
ENST00000458276.7:c.774-657dup	ENSP00000390849.3:n.774-657dup
ENST00000463153.2:c.116dup
ENST00000642351.1:c.766dup	ENSP00000494478.1:p.Arg256ProfsTer?
ENST00000643140.1:c.*251dup	ENSP00000495588.1:n.*251dup
ENST00000643477.1:c.*350dup	ENSP00000496220.1:n.*350dup
ENST00000643500.1:c.*90dup	ENSP00000494735.1:n.*90dup
ENST00000643520.1:n.1055dup
ENST00000644371.2:c.889dup MANE Select	ENSP00000495778.1:p.Arg297ProfsTer?
ENST00000646378.1:c.*939dup	ENSP00000495826.1:n.*939dup
ENST00000646799.1:c.*248-657dup	ENSP00000494829.1:n.*248-657dup
ENST00000649763.1:c.889dup	ENSP00000497701.1:p.Arg297ProfsTer?
ENST00000413300.1:c.290dup	ENSP00000392159.1:p.Ile98AspfsTer4
ENST00000458276.6:c.889dup	ENSP00000390849.2:p.Arg297ProfsTer?
ENST00000463153.1:n.119dup
NM_016006.4:c.889dup	NP_057090.2:p.Arg297ProfsTer?
XM_011533779.1:c.766dup	XP_011532081.1:p.Arg256ProfsTer?
XM_011533780.1:c.774-657dup	XP_011532082.1:n.774-657dup
XR_940447.1:n.834dup
NM_001355186.1:c.889dup	NP_001342115.1:p.Arg297ProfsTer?
NM_001365649.1:c.766dup	NP_001352578.1:p.Arg256ProfsTer?
NM_001365650.1:c.774-657dup	NP_001352579.1:n.774-657dup
NM_016006.5:c.889dup	NP_057090.2:p.Arg297ProfsTer?
NR_158560.1:n.900dup
NM_001355186.2:c.889dup	NP_001342115.1:p.Arg297ProfsTer?
NM_016006.6:c.889dup MANE Select	NP_057090.2:p.Arg297ProfsTer?