Canonical Allele Identifier: CA2621370423
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739371_120739372del , CM000674.2:g.120739371_120739372del GRCh38
NC_000012.11:g.121177174_121177175del , CM000674.1:g.121177174_121177175del GRCh37
NC_000012.10:g.119661557_119661558del NCBI36
NG_007991.1:g.18604_18605del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1162_1163del MANE Select ENSP00000242592.4:p.Thr388Ter
ENST00000242592.8:c.1162_1163del ENSP00000242592.4:p.Thr388Ter
ENST00000411593.2:c.1150_1151del ENSP00000401045.2:p.Thr384Ter
NM_000017.3:c.1162_1163del NP_000008.1:p.Thr388Ter
NM_001302554.1:c.1150_1151del NP_001289483.1:p.Thr384Ter
NM_000017.4:c.1162_1163del MANE Select NP_000008.1:p.Thr388Ter
NM_001302554.2:c.1150_1151del NP_001289483.1:p.Thr384Ter