Canonical Allele Identifier: CA542636039

Gene: ABHD5

Linked Data

• dbSNP Id: rs1186152642
• gnomAD v2: 3-43761992-T-TAA
• gnomAD v3: 3-43720500-T-TAA
• gnomAD v4: 3-43720500-T-TAA
• MyVariant Identifiers: chr3:g.43761992_43761993insAA (hg19) ; chr3:g.43720500_43720501insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720502_43720503dup , CM000665.2:g.43720502_43720503dup	GRCh38
NC_000003.11:g.43761994_43761995dup , CM000665.1:g.43761994_43761995dup	GRCh37
NC_000003.10:g.43736998_43736999dup	NCBI36
NG_007090.3:g.34620_34621dup
NG_007090.5:g.34633_34634dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1941_*29+1942dup	ENSP00000412014.2:n.*29+1941_*29+1942dup
ENST00000463153.2:c.306+1941_306+1942dup
ENST00000643477.1:c.*2481_*2482dup	ENSP00000496220.1:n.*2481_*2482dup
ENST00000644371.2:c.*1970_*1971dup MANE Select	ENSP00000495778.1:n.*1970_*1971dup
ENST00000649763.1:c.*29+1941_*29+1942dup	ENSP00000497701.1:n.*29+1941_*29+1942dup
ENST00000463153.1:n.309+1941_309+1942dup
NM_016006.4:c.*1970_*1971dup	NP_057090.2:n.*1970_*1971dup
XM_011533779.1:c.*1970_*1971dup	XP_011532081.1:n.*1970_*1971dup
XM_011533780.1:c.*1996_*1997dup	XP_011532082.1:n.*1996_*1997dup
XR_940447.1:n.2965_2966dup
NM_001355186.1:c.*29+1941_*29+1942dup	NP_001342115.1:n.*29+1941_*29+1942dup
NM_001365649.1:c.*1970_*1971dup	NP_001352578.1:n.*1970_*1971dup
NM_001365650.1:c.*1996_*1997dup	NP_001352579.1:n.*1996_*1997dup
NM_016006.5:c.*1970_*1971dup	NP_057090.2:n.*1970_*1971dup
NR_158560.1:n.3031_3032dup
NM_001355186.2:c.*29+1941_*29+1942dup	NP_001342115.1:n.*29+1941_*29+1942dup
NM_016006.6:c.*1970_*1971dup MANE Select	NP_057090.2:n.*1970_*1971dup