Canonical Allele Identifier: CA74393480

Gene: ABHD5

Linked Data

• dbSNP Id: rs956759601
• gnomAD v3: 3-43720887-TTTC-T
• gnomAD v4: 3-43720887-TTTC-T
• MyVariant Identifiers: chr3:g.43762380_43762382del (hg19) ; chr3:g.43720888_43720890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720893_43720895del , CM000665.2:g.43720893_43720895del	GRCh38
NC_000003.11:g.43762385_43762387del , CM000665.1:g.43762385_43762387del	GRCh37
NC_000003.10:g.43737389_43737391del	NCBI36
NG_007090.3:g.35011_35013del
NG_007090.5:g.35024_35026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2332_*29+2334del	ENSP00000412014.2:n.*29+2332_*29+2334del
ENST00000463153.2:c.306+2332_306+2334del
ENST00000644371.2:c.*2361_*2363del MANE Select	ENSP00000495778.1:n.*2361_*2363del
ENST00000649763.1:c.*29+2332_*29+2334del	ENSP00000497701.1:n.*29+2332_*29+2334del
ENST00000463153.1:n.309+2332_309+2334del
NM_016006.4:c.*2361_*2363del	NP_057090.2:n.*2361_*2363del
XM_011533779.1:c.*2361_*2363del	XP_011532081.1:n.*2361_*2363del
XM_011533780.1:c.*2387_*2389del	XP_011532082.1:n.*2387_*2389del
XR_940447.1:n.3356_3358del
NM_001355186.1:c.*29+2332_*29+2334del	NP_001342115.1:n.*29+2332_*29+2334del
NM_001365649.1:c.*2361_*2363del	NP_001352578.1:n.*2361_*2363del
NM_001365650.1:c.*2387_*2389del	NP_001352579.1:n.*2387_*2389del
NM_016006.5:c.*2361_*2363del	NP_057090.2:n.*2361_*2363del
NR_158560.1:n.3422_3424del
NM_001355186.2:c.*29+2332_*29+2334del	NP_001342115.1:n.*29+2332_*29+2334del
NM_016006.6:c.*2361_*2363del MANE Select	NP_057090.2:n.*2361_*2363del