Canonical Allele Identifier: CA907313880

Gene: ABHD5

Linked Data

• dbSNP Id: rs1244173816
• gnomAD v3: 3-43720811-GA-G
• gnomAD v4: 3-43720811-GA-G
• MyVariant Identifiers: chr3:g.43762304del (hg19) ; chr3:g.43720812del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720813del , CM000665.2:g.43720813del	GRCh38
NC_000003.11:g.43762305del , CM000665.1:g.43762305del	GRCh37
NC_000003.10:g.43737309del	NCBI36
NG_007090.3:g.34931del
NG_007090.5:g.34944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2252del	ENSP00000412014.2:n.*29+2252del
ENST00000463153.2:c.306+2252del
ENST00000644371.2:c.*2281del MANE Select	ENSP00000495778.1:n.*2281del
ENST00000649763.1:c.*29+2252del	ENSP00000497701.1:n.*29+2252del
ENST00000463153.1:n.309+2252del
NM_016006.4:c.*2281del	NP_057090.2:n.*2281del
XM_011533779.1:c.*2281del	XP_011532081.1:n.*2281del
XM_011533780.1:c.*2307del	XP_011532082.1:n.*2307del
XR_940447.1:n.3276del
NM_001355186.1:c.*29+2252del	NP_001342115.1:n.*29+2252del
NM_001365649.1:c.*2281del	NP_001352578.1:n.*2281del
NM_001365650.1:c.*2307del	NP_001352579.1:n.*2307del
NM_016006.5:c.*2281del	NP_057090.2:n.*2281del
NR_158560.1:n.3342del
NM_001355186.2:c.*29+2252del	NP_001342115.1:n.*29+2252del
NM_016006.6:c.*2281del MANE Select	NP_057090.2:n.*2281del