Canonical Allele Identifier: CA2341507

Gene: ABHD5

Linked Data

• dbSNP Id: rs765971738
• ExAC: 3:43759389 A / AG
• gnomAD v2: 3-43759389-A-AG
• gnomAD v3: 3-43717897-A-AG
• gnomAD v4: 3-43717897-A-AG
• MyVariant Identifiers: chr3:g.43759389_43759390insG (hg19) ; chr3:g.43717897_43717898insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717899dup , CM000665.2:g.43717899dup	GRCh38
NC_000003.11:g.43759391dup , CM000665.1:g.43759391dup	GRCh37
NC_000003.10:g.43734395dup	NCBI36
NG_007090.3:g.32017dup
NG_007090.5:g.32030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.359+42dup
ENST00000454293.2:c.837+42dup	ENSP00000412014.2:n.837+42dup
ENST00000458276.7:c.774-544dup	ENSP00000390849.3:n.774-544dup
ENST00000463153.2:c.187+42dup
ENST00000642351.1:c.837+42dup	ENSP00000494478.1:n.837+42dup
ENST00000643140.1:c.*322+42dup	ENSP00000495588.1:n.*322+42dup
ENST00000643477.1:c.*421+42dup	ENSP00000496220.1:n.*421+42dup
ENST00000643500.1:c.*161+42dup	ENSP00000494735.1:n.*161+42dup
ENST00000643520.1:n.1126+42dup
ENST00000644371.2:c.960+42dup MANE Select	ENSP00000495778.1:n.960+42dup
ENST00000646378.1:c.*1010+42dup	ENSP00000495826.1:n.*1010+42dup
ENST00000646799.1:c.*248-544dup	ENSP00000494829.1:n.*248-544dup
ENST00000649763.1:c.960+42dup	ENSP00000497701.1:n.960+42dup
ENST00000413300.1:c.361+42dup	ENSP00000392159.1:n.361+42dup
ENST00000458276.6:c.960+42dup	ENSP00000390849.2:n.960+42dup
ENST00000463153.1:n.190+42dup
NM_016006.4:c.960+42dup	NP_057090.2:n.960+42dup
XM_011533779.1:c.837+42dup	XP_011532081.1:n.837+42dup
XM_011533780.1:c.774-544dup	XP_011532082.1:n.774-544dup
XR_940447.1:n.905+42dup
NM_001355186.1:c.960+42dup	NP_001342115.1:n.960+42dup
NM_001365649.1:c.837+42dup	NP_001352578.1:n.837+42dup
NM_001365650.1:c.774-544dup	NP_001352579.1:n.774-544dup
NM_016006.5:c.960+42dup	NP_057090.2:n.960+42dup
NR_158560.1:n.971+42dup
NM_001355186.2:c.960+42dup	NP_001342115.1:n.960+42dup
NM_016006.6:c.960+42dup MANE Select	NP_057090.2:n.960+42dup