Canonical Allele Identifier: CA2531173172
Gene: ACADS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739374_120739375insTGTGCC , CM000674.2:g.120739374_120739375insTGTGCC GRCh38
NC_000012.11:g.121177177_121177178insTGTGCC , CM000674.1:g.121177177_121177178insTGTGCC GRCh37
NC_000012.10:g.119661560_119661561insTGTGCC NCBI36
NG_007991.1:g.18607_18608insTGTGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1165_1166insTGTGCC MANE Select ENSP00000242592.4:p.Glu389delinsValCysGln
ENST00000242592.8:c.1165_1166insTGTGCC ENSP00000242592.4:p.Glu389delinsValCysGln
ENST00000411593.2:c.1153_1154insTGTGCC ENSP00000401045.2:p.Glu385delinsValCysGln
NM_000017.3:c.1165_1166insTGTGCC NP_000008.1:p.Glu389delinsValCysGln
NM_001302554.1:c.1153_1154insTGTGCC NP_001289483.1:p.Glu385delinsValCysGln
NM_000017.4:c.1165_1166insTGTGCC MANE Select NP_000008.1:p.Glu389delinsValCysGln
NM_001302554.2:c.1153_1154insTGTGCC NP_001289483.1:p.Glu385delinsValCysGln