Canonical Allele Identifier: CA2665310933
Gene: ABHD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717657_43717667del , CM000665.2:g.43717657_43717667del GRCh38
NC_000003.11:g.43759149_43759159del , CM000665.1:g.43759149_43759159del GRCh37
NC_000003.10:g.43734153_43734163del NCBI36
NG_007090.3:g.31775_31785del
NG_007090.5:g.31788_31798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.268-109_268-99del
ENST00000454293.2:c.651-14_651-4del ENSP00000412014.2:n.651-14_651-4del
ENST00000458276.7:c.774-786_774-776del ENSP00000390849.3:n.774-786_774-776del
ENST00000642351.1:c.651-14_651-4del ENSP00000494478.1:n.651-14_651-4del
ENST00000643140.1:c.*136-14_*136-4del ENSP00000495588.1:n.*136-14_*136-4del
ENST00000643477.1:c.*235-14_*235-4del ENSP00000496220.1:n.*235-14_*235-4del
ENST00000643500.1:c.662-14_662-4del ENSP00000494735.1:n.662-14_662-4del
ENST00000643520.1:n.940-14_940-4del
ENST00000644371.2:c.774-14_774-4del MANE Select ENSP00000495778.1:n.774-14_774-4del
ENST00000646378.1:c.*824-14_*824-4del ENSP00000495826.1:n.*824-14_*824-4del
ENST00000646799.1:c.*248-786_*248-776del ENSP00000494829.1:n.*248-786_*248-776del
ENST00000649763.1:c.774-14_774-4del ENSP00000497701.1:n.774-14_774-4del
ENST00000413300.1:c.270-109_270-99del ENSP00000392159.1:n.270-109_270-99del
ENST00000458276.6:c.774-14_774-4del ENSP00000390849.2:n.774-14_774-4del
NM_016006.4:c.774-14_774-4del NP_057090.2:n.774-14_774-4del
XM_011533779.1:c.651-14_651-4del XP_011532081.1:n.651-14_651-4del
XM_011533780.1:c.774-786_774-776del XP_011532082.1:n.774-786_774-776del
XR_940447.1:n.719-14_719-4del
NM_001355186.1:c.774-14_774-4del NP_001342115.1:n.774-14_774-4del
NM_001365649.1:c.651-14_651-4del NP_001352578.1:n.651-14_651-4del
NM_001365650.1:c.774-786_774-776del NP_001352579.1:n.774-786_774-776del
NM_016006.5:c.774-14_774-4del NP_057090.2:n.774-14_774-4del
NR_158560.1:n.785-14_785-4del
NM_001355186.2:c.774-14_774-4del NP_001342115.1:n.774-14_774-4del
NM_016006.6:c.774-14_774-4del MANE Select NP_057090.2:n.774-14_774-4del