Canonical Allele Identifier: CA2341214

Gene: ABHD5 ANO10

Linked Data

• dbSNP Id: rs775830100
• ExAC: 3:43732502 G / GGAGGTGGACTCTGCCGACACCGGAGA
• gnomAD v2: 3-43732502-G-GGAGGTGGACTCTGCCGACACCGGAGA
• MyVariant Identifiers: chr3:g.43732502_43732503insGAGGTGGACTCTGCCGACACCGGAGA (hg19) ; chr3:g.43691010_43691011insGAGGTGGACTCTGCCGACACCGGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43691016_43691041dup , CM000665.2:g.43691016_43691041dup	GRCh38
NC_000003.11:g.43732508_43732533dup , CM000665.1:g.43732508_43732533dup	GRCh37
NC_000003.10:g.43707512_43707537dup	NCBI36
NG_007090.3:g.5134_5159dup
NG_007090.5:g.5147_5172dup
NG_028216.2:g.5559_5584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.24_47+2dup (ABHD5)
ENST00000458276.7:c.24_47+2dup (ABHD5)
ENST00000643140.1:c.24_47+2dup (ABHD5)
ENST00000643477.1:c.24_47+2dup (ABHD5)
ENST00000643500.1:c.24_47+2dup (ABHD5)
ENST00000643520.1:n.95+814_95+839dup (ABHD5)
ENST00000644371.2:c.24_47+2dup (ABHD5)
ENST00000646378.1:c.24_47+2dup (ABHD5)
ENST00000646799.1:c.24_47+2dup (ABHD5)
ENST00000649763.1:c.24_47+2dup (ABHD5)
ENST00000013894.2:c.24_47+2dup (ABHD5)
ENST00000413397.5:c.-12+481_-12+506dup (ANO10)	ENSP00000399103.1:n.-12+481_-12+506dup
ENST00000439141.5:c.-106+481_-106+506dup (ANO10)	ENSP00000397360.1:n.-106+481_-106+506dup
ENST00000456453.5:c.-77+306_-77+331dup (ABHD5)	ENSP00000391582.1:n.-77+306_-77+331dup
ENST00000458276.6:c.24_47+2dup (ABHD5)
ENST00000486764.1:n.125_148+2dup (ABHD5)
ENST00000495772.1:n.56+481_56+506dup (ANO10)
NM_016006.4:c.24_47+2dup (ABHD5)
XM_011533780.1:c.24_47+2dup (ABHD5)
XM_011533883.1:c.-12+481_-12+506dup (ANO10)	XP_011532185.1:n.-12+481_-12+506dup
XR_940447.1:n.81_104+2dup (ABHD5)
NM_001346468.1:c.-12+481_-12+506dup (ANO10)	NP_001333397.1:n.-12+481_-12+506dup
NM_001346469.1:c.-12+481_-12+506dup (ANO10)	NP_001333398.1:n.-12+481_-12+506dup
NM_001355186.1:c.24_47+2dup (ABHD5)
NM_001365650.1:c.24_47+2dup (ABHD5)
NM_016006.5:c.24_47+2dup (ABHD5)
NR_158560.1:n.147_170+2dup (ABHD5)
XM_017006717.2:c.-12+481_-12+506dup (ANO10)	XP_016862206.1:n.-12+481_-12+506dup
NM_001355186.2:c.24_47+2dup (ABHD5)
NM_016006.6:c.24_47+2dup (ABHD5)
NM_001346468.2:c.-12+481_-12+506dup (ANO10)	NP_001333397.1:n.-12+481_-12+506dup
NM_001346469.2:c.-12+481_-12+506dup (ANO10)	NP_001333398.1:n.-12+481_-12+506dup