Canonical Allele Identifier: CA2665310924
Gene: ABHD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717641_43717642dup , CM000665.2:g.43717641_43717642dup GRCh38
NC_000003.11:g.43759133_43759134dup , CM000665.1:g.43759133_43759134dup GRCh37
NC_000003.10:g.43734137_43734138dup NCBI36
NG_007090.3:g.31759_31760dup
NG_007090.5:g.31772_31773dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.268-125_268-124dup
ENST00000454293.2:c.651-30_651-29dup ENSP00000412014.2:n.651-30_651-29dup
ENST00000458276.7:c.774-802_774-801dup ENSP00000390849.3:n.774-802_774-801dup
ENST00000642351.1:c.651-30_651-29dup ENSP00000494478.1:n.651-30_651-29dup
ENST00000643140.1:c.*136-30_*136-29dup ENSP00000495588.1:n.*136-30_*136-29dup
ENST00000643477.1:c.*235-30_*235-29dup ENSP00000496220.1:n.*235-30_*235-29dup
ENST00000643500.1:c.662-30_662-29dup ENSP00000494735.1:n.662-30_662-29dup
ENST00000643520.1:n.940-30_940-29dup
ENST00000644371.2:c.774-30_774-29dup MANE Select ENSP00000495778.1:n.774-30_774-29dup
ENST00000646378.1:c.*824-30_*824-29dup ENSP00000495826.1:n.*824-30_*824-29dup
ENST00000646799.1:c.*248-802_*248-801dup ENSP00000494829.1:n.*248-802_*248-801dup
ENST00000649763.1:c.774-30_774-29dup ENSP00000497701.1:n.774-30_774-29dup
ENST00000413300.1:c.270-125_270-124dup ENSP00000392159.1:n.270-125_270-124dup
ENST00000458276.6:c.774-30_774-29dup ENSP00000390849.2:n.774-30_774-29dup
NM_016006.4:c.774-30_774-29dup NP_057090.2:n.774-30_774-29dup
XM_011533779.1:c.651-30_651-29dup XP_011532081.1:n.651-30_651-29dup
XM_011533780.1:c.774-802_774-801dup XP_011532082.1:n.774-802_774-801dup
XR_940447.1:n.719-30_719-29dup
NM_001355186.1:c.774-30_774-29dup NP_001342115.1:n.774-30_774-29dup
NM_001365649.1:c.651-30_651-29dup NP_001352578.1:n.651-30_651-29dup
NM_001365650.1:c.774-802_774-801dup NP_001352579.1:n.774-802_774-801dup
NM_016006.5:c.774-30_774-29dup NP_057090.2:n.774-30_774-29dup
NR_158560.1:n.785-30_785-29dup
NM_001355186.2:c.774-30_774-29dup NP_001342115.1:n.774-30_774-29dup
NM_016006.6:c.774-30_774-29dup MANE Select NP_057090.2:n.774-30_774-29dup