Canonical Allele Identifier: CA2665309690

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43699363-T-TATAATACCCTCATTTGACAGATGTGGAAAGAAGTTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699364_43699365insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA , CM000665.2:g.43699364_43699365insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	GRCh38
NC_000003.11:g.43740856_43740857insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA , CM000665.1:g.43740856_43740857insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	GRCh37
NC_000003.10:g.43715860_43715861insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	NCBI36
NG_007090.3:g.13482_13483insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA
NG_007090.5:g.13495_13496insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000013894.2:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000454293.2:c.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000412014.2:n.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAG...
ENST00000458276.7:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000390849.3:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000642351.1:c.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000494478.1:n.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAG...
ENST00000643140.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000495588.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000643477.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000496220.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000643500.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000494735.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000643520.1:n.181+3_181+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA
ENST00000644371.2:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA MANE Select	ENSP00000495778.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000646378.1:c.*183+3_*183+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000495826.1:n.*183+3_*183+4insTAATACCCTCATTTGACAGATGTGG...
ENST00000646799.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000494829.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000649763.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000497701.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000013894.2:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000013894.2:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000454293.1:c.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000412014.1:n.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAG...
ENST00000456453.5:c.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000391582.1:n.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAG...
ENST00000458276.6:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	ENSP00000390849.2:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAA...
ENST00000486764.1:n.237_238insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA
NM_016006.4:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	NP_057090.2:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGT...
XM_011533779.1:c.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	XP_011532081.1:n.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAG...
XM_011533780.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	XP_011532082.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGA...
XR_940447.1:n.190+3_190+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA
NM_001355186.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	NP_001342115.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGA...
NM_001365649.1:c.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	NP_001352578.1:n.10+3_10+4insTAATACCCTCATTTGACAGATGTGGAAAGAAG...
NM_001365650.1:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	NP_001352579.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGA...
NM_016006.5:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	NP_057090.2:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGT...
NR_158560.1:n.256+3_256+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA
NM_001355186.2:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA	NP_001342115.1:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGA...
NM_016006.6:c.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGTTAGA MANE Select	NP_057090.2:n.133+3_133+4insTAATACCCTCATTTGACAGATGTGGAAAGAAGT...