Canonical Allele Identifier: CA542636038

Gene: ABHD5

Linked Data

• dbSNP Id: rs767379534
• gnomAD v2: 3-43761987-CTTT-C
• gnomAD v3: 3-43720495-CTTT-C
• gnomAD v4: 3-43720495-CTTT-C
• MyVariant Identifiers: chr3:g.43761988_43761990del (hg19) ; chr3:g.43720496_43720498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720498_43720500del , CM000665.2:g.43720498_43720500del	GRCh38
NC_000003.11:g.43761990_43761992del , CM000665.1:g.43761990_43761992del	GRCh37
NC_000003.10:g.43736994_43736996del	NCBI36
NG_007090.3:g.34616_34618del
NG_007090.5:g.34629_34631del

Transcript Alleles

HGVS	Amino-acid change
ENST00000454293.2:c.*29+1937_*29+1939del	ENSP00000412014.2:n.*29+1937_*29+1939del
ENST00000463153.2:c.306+1937_306+1939del
ENST00000643477.1:c.*2477_*2479del	ENSP00000496220.1:n.*2477_*2479del
ENST00000644371.2:c.*1966_*1968del MANE Select	ENSP00000495778.1:n.*1966_*1968del
ENST00000649763.1:c.*29+1937_*29+1939del	ENSP00000497701.1:n.*29+1937_*29+1939del
ENST00000463153.1:n.309+1937_309+1939del
NM_016006.4:c.*1966_*1968del	NP_057090.2:n.*1966_*1968del
XM_011533779.1:c.*1966_*1968del	XP_011532081.1:n.*1966_*1968del
XM_011533780.1:c.*1992_*1994del	XP_011532082.1:n.*1992_*1994del
XR_940447.1:n.2961_2963del
NM_001355186.1:c.*29+1937_*29+1939del	NP_001342115.1:n.*29+1937_*29+1939del
NM_001365649.1:c.*1966_*1968del	NP_001352578.1:n.*1966_*1968del
NM_001365650.1:c.*1992_*1994del	NP_001352579.1:n.*1992_*1994del
NM_016006.5:c.*1966_*1968del	NP_057090.2:n.*1966_*1968del
NR_158560.1:n.3027_3029del
NM_001355186.2:c.*29+1937_*29+1939del	NP_001342115.1:n.*29+1937_*29+1939del
NM_016006.6:c.*1966_*1968del MANE Select	NP_057090.2:n.*1966_*1968del