Canonical Allele Identifier: CA907313962

Gene: ABHD5

Linked Data

• dbSNP Id: rs1209312391
• gnomAD v3: 3-43720885-GTTTTCTTCTT-G
• gnomAD v4: 3-43720885-GTTTTCTTCTT-G
• MyVariant Identifiers: chr3:g.43762378_43762387del (hg19) ; chr3:g.43720886_43720895del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720895_43720904del , CM000665.2:g.43720895_43720904del	GRCh38
NC_000003.11:g.43762387_43762396del , CM000665.1:g.43762387_43762396del	GRCh37
NC_000003.10:g.43737391_43737400del	NCBI36
NG_007090.3:g.35013_35022del
NG_007090.5:g.35026_35035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2334_*29+2343del	ENSP00000412014.2:n.*29+2334_*29+2343del
ENST00000463153.2:c.306+2334_306+2343del
ENST00000644371.2:c.*2363_*2372del MANE Select	ENSP00000495778.1:n.*2363_*2372del
ENST00000649763.1:c.*29+2334_*29+2343del	ENSP00000497701.1:n.*29+2334_*29+2343del
ENST00000463153.1:n.309+2334_309+2343del
NM_016006.4:c.*2363_*2372del	NP_057090.2:n.*2363_*2372del
XM_011533779.1:c.*2363_*2372del	XP_011532081.1:n.*2363_*2372del
XM_011533780.1:c.*2389_*2398del	XP_011532082.1:n.*2389_*2398del
XR_940447.1:n.3358_3367del
NM_001355186.1:c.*29+2334_*29+2343del	NP_001342115.1:n.*29+2334_*29+2343del
NM_001365649.1:c.*2363_*2372del	NP_001352578.1:n.*2363_*2372del
NM_001365650.1:c.*2389_*2398del	NP_001352579.1:n.*2389_*2398del
NM_016006.5:c.*2363_*2372del	NP_057090.2:n.*2363_*2372del
NR_158560.1:n.3424_3433del
NM_001355186.2:c.*29+2334_*29+2343del	NP_001342115.1:n.*29+2334_*29+2343del
NM_016006.6:c.*2363_*2372del MANE Select	NP_057090.2:n.*2363_*2372del