Canonical Allele Identifier: CA2341477

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 996655
• ClinVar RCV Id: RCV001291295 ; RCV001863163
• dbSNP Id: rs773892644
• ExAC: 3:43759224 CA / C
• gnomAD v2: 3-43759224-CA-C
• gnomAD v3: 3-43717732-CA-C
• gnomAD v4: 3-43717732-CA-C
• MyVariant Identifiers: chr3:g.43759225del (hg19) ; chr3:g.43717733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717733del , CM000665.2:g.43717733del	GRCh38
NC_000003.11:g.43759225del , CM000665.1:g.43759225del	GRCh37
NC_000003.10:g.43734229del	NCBI36
NG_007090.3:g.31851del
NG_007090.5:g.31864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-33del
ENST00000454293.2:c.713del	ENSP00000412014.2:p.Gln238ArgfsTer14
ENST00000458276.7:c.774-710del	ENSP00000390849.3:n.774-710del
ENST00000463153.2:c.63del
ENST00000642351.1:c.713del	ENSP00000494478.1:p.Gln238ArgfsTer14
ENST00000643140.1:c.*198del	ENSP00000495588.1:n.*198del
ENST00000643477.1:c.*297del	ENSP00000496220.1:n.*297del
ENST00000643500.1:c.*37del	ENSP00000494735.1:n.*37del
ENST00000643520.1:n.1002del
ENST00000644371.2:c.836del MANE Select	ENSP00000495778.1:p.Gln279ArgfsTer14
ENST00000646378.1:c.*886del	ENSP00000495826.1:n.*886del
ENST00000646799.1:c.*248-710del	ENSP00000494829.1:n.*248-710del
ENST00000649763.1:c.836del	ENSP00000497701.1:p.Gln279ArgfsTer14
ENST00000413300.1:c.270-33del	ENSP00000392159.1:n.270-33del
ENST00000458276.6:c.836del	ENSP00000390849.2:p.Gln279ArgfsTer14
ENST00000463153.1:n.66del
NM_016006.4:c.836del	NP_057090.2:p.Gln279ArgfsTer14
XM_011533779.1:c.713del	XP_011532081.1:p.Gln238ArgfsTer14
XM_011533780.1:c.774-710del	XP_011532082.1:n.774-710del
XR_940447.1:n.781del
NM_001355186.1:c.836del	NP_001342115.1:p.Gln279ArgfsTer14
NM_001365649.1:c.713del	NP_001352578.1:p.Gln238ArgfsTer14
NM_001365650.1:c.774-710del	NP_001352579.1:n.774-710del
NM_016006.5:c.836del	NP_057090.2:p.Gln279ArgfsTer14
NR_158560.1:n.847del
NM_001355186.2:c.836del	NP_001342115.1:p.Gln279ArgfsTer14
NM_016006.6:c.836del MANE Select	NP_057090.2:p.Gln279ArgfsTer14