Canonical Allele Identifier: CA2577566096

Gene: ABHD5 ANO10

Linked Data

• gnomAD v4: 3-43690904-CCGCCTTAAGTGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43690909_43690922del , CM000665.2:g.43690909_43690922del	GRCh38
NC_000003.11:g.43732401_43732414del , CM000665.1:g.43732401_43732414del	GRCh37
NC_000003.10:g.43707405_43707418del	NCBI36
NG_007090.3:g.5027_5040del
NG_007090.5:g.5040_5053del
NG_028216.2:g.5677_5690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458276.7:c.-84_-71del (ABHD5)	ENSP00000390849.3:n.-84_-71del
ENST00000643140.1:c.-84_-71del (ABHD5)	ENSP00000495588.1:n.-84_-71del
ENST00000643520.1:n.95+707_95+720del (ABHD5)
ENST00000649763.1:c.-84_-71del (ABHD5)	ENSP00000497701.1:n.-84_-71del
ENST00000413397.5:c.-12+599_-12+612del (ANO10)	ENSP00000399103.1:n.-12+599_-12+612del
ENST00000439141.5:c.-106+599_-106+612del (ANO10)	ENSP00000397360.1:n.-106+599_-106+612del
ENST00000456453.5:c.-77+199_-77+212del (ABHD5)	ENSP00000391582.1:n.-77+199_-77+212del
ENST00000458276.6:c.-84_-71del (ABHD5)	ENSP00000390849.2:n.-84_-71del
ENST00000486764.1:n.18_31del (ABHD5)
ENST00000495772.1:n.56+599_56+612del (ANO10)
NM_016006.4:c.-84_-71del (ABHD5)	NP_057090.2:n.-84_-71del
XM_011533883.1:c.-12+599_-12+612del (ANO10)	XP_011532185.1:n.-12+599_-12+612del
NM_001346468.1:c.-12+599_-12+612del (ANO10)	NP_001333397.1:n.-12+599_-12+612del
NM_001346469.1:c.-12+599_-12+612del (ANO10)	NP_001333398.1:n.-12+599_-12+612del
NM_001355186.1:c.-84_-71del (ABHD5)	NP_001342115.1:n.-84_-71del
NM_001365650.1:c.-84_-71del (ABHD5)	NP_001352579.1:n.-84_-71del
NM_016006.5:c.-84_-71del (ABHD5)	NP_057090.2:n.-84_-71del
NR_158560.1:n.40_53del (ABHD5)
XM_017006717.2:c.-12+599_-12+612del (ANO10)	XP_016862206.1:n.-12+599_-12+612del
NM_001346468.2:c.-12+599_-12+612del (ANO10)	NP_001333397.1:n.-12+599_-12+612del
NM_001346469.2:c.-12+599_-12+612del (ANO10)	NP_001333398.1:n.-12+599_-12+612del