Canonical Allele Identifier: CA907313851

Gene: ABHD5

Linked Data

• dbSNP Id: rs1252251412
• gnomAD v3: 3-43720797-CTGT-C
• gnomAD v4: 3-43720797-CTGT-C
• MyVariant Identifiers: chr3:g.43762290_43762292del (hg19) ; chr3:g.43720798_43720800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720802_43720804del , CM000665.2:g.43720802_43720804del	GRCh38
NC_000003.11:g.43762294_43762296del , CM000665.1:g.43762294_43762296del	GRCh37
NC_000003.10:g.43737298_43737300del	NCBI36
NG_007090.3:g.34920_34922del
NG_007090.5:g.34933_34935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2241_*29+2243del	ENSP00000412014.2:n.*29+2241_*29+2243del
ENST00000463153.2:c.306+2241_306+2243del
ENST00000643477.1:c.*2781_*2783del	ENSP00000496220.1:n.*2781_*2783del
ENST00000644371.2:c.*2270_*2272del MANE Select	ENSP00000495778.1:n.*2270_*2272del
ENST00000649763.1:c.*29+2241_*29+2243del	ENSP00000497701.1:n.*29+2241_*29+2243del
ENST00000463153.1:n.309+2241_309+2243del
NM_016006.4:c.*2270_*2272del	NP_057090.2:n.*2270_*2272del
XM_011533779.1:c.*2270_*2272del	XP_011532081.1:n.*2270_*2272del
XM_011533780.1:c.*2296_*2298del	XP_011532082.1:n.*2296_*2298del
XR_940447.1:n.3265_3267del
NM_001355186.1:c.*29+2241_*29+2243del	NP_001342115.1:n.*29+2241_*29+2243del
NM_001365649.1:c.*2270_*2272del	NP_001352578.1:n.*2270_*2272del
NM_001365650.1:c.*2296_*2298del	NP_001352579.1:n.*2296_*2298del
NM_016006.5:c.*2270_*2272del	NP_057090.2:n.*2270_*2272del
NR_158560.1:n.3331_3333del
NM_001355186.2:c.*29+2241_*29+2243del	NP_001342115.1:n.*29+2241_*29+2243del
NM_016006.6:c.*2270_*2272del MANE Select	NP_057090.2:n.*2270_*2272del