Canonical Allele Identifier: CA2665308468

Gene: ABHD5 ANO10

Linked Data

• gnomAD v4: 3-43691000-C-CGGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43691009_43691014dup , CM000665.2:g.43691009_43691014dup	GRCh38
NC_000003.11:g.43732501_43732506dup , CM000665.1:g.43732501_43732506dup	GRCh37
NC_000003.10:g.43707505_43707510dup	NCBI36
NG_007090.3:g.5127_5132dup
NG_007090.5:g.5140_5145dup
NG_028216.2:g.5589_5594dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.17_22dup (ABHD5)	ENSP00000013894.2:p.Glu7_Val8insGluGlu
ENST00000458276.7:c.17_22dup (ABHD5)	ENSP00000390849.3:p.Glu7_Val8insGluGlu
ENST00000643140.1:c.17_22dup (ABHD5)	ENSP00000495588.1:p.Glu7_Val8insGluGlu
ENST00000643477.1:c.17_22dup (ABHD5)	ENSP00000496220.1:p.Glu7_Val8insGluGlu
ENST00000643500.1:c.17_22dup (ABHD5)	ENSP00000494735.1:p.Glu7_Val8insGluGlu
ENST00000643520.1:n.95+807_95+812dup (ABHD5)
ENST00000644371.2:c.17_22dup (ABHD5) MANE Select	ENSP00000495778.1:p.Glu7_Val8insGluGlu
ENST00000646378.1:c.17_22dup (ABHD5)	ENSP00000495826.1:p.Glu7_Val8insGluGlu
ENST00000646799.1:c.17_22dup (ABHD5)	ENSP00000494829.1:p.Glu7_Val8insGluGlu
ENST00000649763.1:c.17_22dup (ABHD5)	ENSP00000497701.1:p.Glu7_Val8insGluGlu
ENST00000013894.2:c.17_22dup (ABHD5)	ENSP00000013894.2:p.Glu7_Val8insGluGlu
ENST00000413397.5:c.-12+511_-12+516dup (ANO10)	ENSP00000399103.1:n.-12+511_-12+516dup
ENST00000439141.5:c.-106+511_-106+516dup (ANO10)	ENSP00000397360.1:n.-106+511_-106+516dup
ENST00000456453.5:c.-77+299_-77+304dup (ABHD5)	ENSP00000391582.1:n.-77+299_-77+304dup
ENST00000458276.6:c.17_22dup (ABHD5)	ENSP00000390849.2:p.Glu7_Val8insGluGlu
ENST00000486764.1:n.118_123dup (ABHD5)
ENST00000495772.1:n.56+511_56+516dup (ANO10)
NM_016006.4:c.17_22dup (ABHD5)	NP_057090.2:p.Glu7_Val8insGluGlu
XM_011533780.1:c.17_22dup (ABHD5)	XP_011532082.1:p.Glu7_Val8insGluGlu
XM_011533883.1:c.-12+511_-12+516dup (ANO10)	XP_011532185.1:n.-12+511_-12+516dup
XR_940447.1:n.74_79dup (ABHD5)
NM_001346468.1:c.-12+511_-12+516dup (ANO10)	NP_001333397.1:n.-12+511_-12+516dup
NM_001346469.1:c.-12+511_-12+516dup (ANO10)	NP_001333398.1:n.-12+511_-12+516dup
NM_001355186.1:c.17_22dup (ABHD5)	NP_001342115.1:p.Glu7_Val8insGluGlu
NM_001365650.1:c.17_22dup (ABHD5)	NP_001352579.1:p.Glu7_Val8insGluGlu
NM_016006.5:c.17_22dup (ABHD5)	NP_057090.2:p.Glu7_Val8insGluGlu
NR_158560.1:n.140_145dup (ABHD5)
XM_017006717.2:c.-12+511_-12+516dup (ANO10)	XP_016862206.1:n.-12+511_-12+516dup
NM_001355186.2:c.17_22dup (ABHD5)	NP_001342115.1:p.Glu7_Val8insGluGlu
NM_016006.6:c.17_22dup (ABHD5) MANE Select	NP_057090.2:p.Glu7_Val8insGluGlu
NM_001346468.2:c.-12+511_-12+516dup (ANO10)	NP_001333397.1:n.-12+511_-12+516dup
NM_001346469.2:c.-12+511_-12+516dup (ANO10)	NP_001333398.1:n.-12+511_-12+516dup