Canonical Allele Identifier: CA74393482

Gene: ABHD5

Linked Data

• dbSNP Id: rs1009602610
• gnomAD v2: 3-43762385-C-CT
• gnomAD v3: 3-43720893-C-CT
• gnomAD v4: 3-43720893-C-CT
• MyVariant Identifiers: chr3:g.43762385_43762386insT (hg19) ; chr3:g.43720893_43720894insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720899dup , CM000665.2:g.43720899dup	GRCh38
NC_000003.11:g.43762391dup , CM000665.1:g.43762391dup	GRCh37
NC_000003.10:g.43737395dup	NCBI36
NG_007090.3:g.35017dup
NG_007090.5:g.35030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2338dup	ENSP00000412014.2:n.*29+2338dup
ENST00000463153.2:c.306+2338dup
ENST00000644371.2:c.*2367dup MANE Select	ENSP00000495778.1:n.*2367dup
ENST00000649763.1:c.*29+2338dup	ENSP00000497701.1:n.*29+2338dup
ENST00000463153.1:n.309+2338dup
NM_016006.4:c.*2367dup	NP_057090.2:n.*2367dup
XM_011533779.1:c.*2367dup	XP_011532081.1:n.*2367dup
XM_011533780.1:c.*2393dup	XP_011532082.1:n.*2393dup
XR_940447.1:n.3362dup
NM_001355186.1:c.*29+2338dup	NP_001342115.1:n.*29+2338dup
NM_001365649.1:c.*2367dup	NP_001352578.1:n.*2367dup
NM_001365650.1:c.*2393dup	NP_001352579.1:n.*2393dup
NM_016006.5:c.*2367dup	NP_057090.2:n.*2367dup
NR_158560.1:n.3428dup
NM_001355186.2:c.*29+2338dup	NP_001342115.1:n.*29+2338dup
NM_016006.6:c.*2367dup MANE Select	NP_057090.2:n.*2367dup