Canonical Allele Identifier: CA542635228

Gene: ABHD5

Linked Data

• dbSNP Id: rs1423030155
• gnomAD v2: 3-43740868-TTG-T
• gnomAD v4: 3-43699376-TTG-T
• MyVariant Identifiers: chr3:g.43740869_43740870del (hg19) ; chr3:g.43699377_43699378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699378_43699379del , CM000665.2:g.43699378_43699379del	GRCh38
NC_000003.11:g.43740870_43740871del , CM000665.1:g.43740870_43740871del	GRCh37
NC_000003.10:g.43715874_43715875del	NCBI36
NG_007090.3:g.13496_13497del
NG_007090.5:g.13509_13510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.133+17_133+18del	ENSP00000013894.2:n.133+17_133+18del
ENST00000454293.2:c.10+17_10+18del	ENSP00000412014.2:n.10+17_10+18del
ENST00000458276.7:c.133+17_133+18del	ENSP00000390849.3:n.133+17_133+18del
ENST00000642351.1:c.10+17_10+18del	ENSP00000494478.1:n.10+17_10+18del
ENST00000643140.1:c.133+17_133+18del	ENSP00000495588.1:n.133+17_133+18del
ENST00000643477.1:c.133+17_133+18del	ENSP00000496220.1:n.133+17_133+18del
ENST00000643500.1:c.133+17_133+18del	ENSP00000494735.1:n.133+17_133+18del
ENST00000643520.1:n.181+17_181+18del
ENST00000644371.2:c.133+17_133+18del MANE Select	ENSP00000495778.1:n.133+17_133+18del
ENST00000646378.1:c.*183+17_*183+18del	ENSP00000495826.1:n.*183+17_*183+18del
ENST00000646799.1:c.133+17_133+18del	ENSP00000494829.1:n.133+17_133+18del
ENST00000649763.1:c.133+17_133+18del	ENSP00000497701.1:n.133+17_133+18del
ENST00000013894.2:c.133+17_133+18del	ENSP00000013894.2:n.133+17_133+18del
ENST00000454293.1:c.10+17_10+18del	ENSP00000412014.1:n.10+17_10+18del
ENST00000456453.5:c.10+17_10+18del	ENSP00000391582.1:n.10+17_10+18del
ENST00000458276.6:c.133+17_133+18del	ENSP00000390849.2:n.133+17_133+18del
ENST00000486764.1:n.251_252del
NM_016006.4:c.133+17_133+18del	NP_057090.2:n.133+17_133+18del
XM_011533779.1:c.10+17_10+18del	XP_011532081.1:n.10+17_10+18del
XM_011533780.1:c.133+17_133+18del	XP_011532082.1:n.133+17_133+18del
XR_940447.1:n.190+17_190+18del
NM_001355186.1:c.133+17_133+18del	NP_001342115.1:n.133+17_133+18del
NM_001365649.1:c.10+17_10+18del	NP_001352578.1:n.10+17_10+18del
NM_001365650.1:c.133+17_133+18del	NP_001352579.1:n.133+17_133+18del
NM_016006.5:c.133+17_133+18del	NP_057090.2:n.133+17_133+18del
NR_158560.1:n.256+17_256+18del
NM_001355186.2:c.133+17_133+18del	NP_001342115.1:n.133+17_133+18del
NM_016006.6:c.133+17_133+18del MANE Select	NP_057090.2:n.133+17_133+18del