Canonical Allele Identifier: CA2507751059

Gene: ACADS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739392_120739393insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC , CM000674.2:g.120739392_120739393insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	GRCh38
NC_000012.11:g.121177195_121177196insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC , CM000674.1:g.121177195_121177196insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	GRCh37
NC_000012.10:g.119661578_119661579insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	NCBI36
NG_007991.1:g.18625_18626insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1183_1184insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC MANE Select	ENSP00000242592.4:p.Ser395ThrfsTer44
ENST00000242592.8:c.1183_1184insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	ENSP00000242592.4:p.Ser395ThrfsTer44
ENST00000411593.2:c.1171_1172insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	ENSP00000401045.2:p.Ser391ThrfsTer44
NM_000017.3:c.1183_1184insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	NP_000008.1:p.Ser395ThrfsTer44
NM_001302554.1:c.1171_1172insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	NP_001289483.1:p.Ser391ThrfsTer44
NM_000017.4:c.1183_1184insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC MANE Select	NP_000008.1:p.Ser395ThrfsTer44
NM_001302554.2:c.1171_1172insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC	NP_001289483.1:p.Ser391ThrfsTer44