Canonical Allele Identifier: CA2067543732
Gene: ACADS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120727100_120727111delinsTTGCTCCAGACA , CM000674.2:g.120727100_120727111delinsTTGCTCCAGACA GRCh38
NC_000012.11:g.121164903_121164914delinsTTGCTCCAGACA , CM000674.1:g.121164903_121164914delinsTTGCTCCAGACA GRCh37
NC_000012.10:g.119649286_119649297delinsTTGCTCCAGACA NCBI36
NG_007991.1:g.6333_6344delinsTTGCTCCAGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.121_132delinsTTGCTCCAGACA MANE Select ENSP00000242592.4:p.Leu41=
ENST00000242592.8:c.121_132delinsTTGCTCCAGACA ENSP00000242592.4:p.Leu41=
ENST00000411593.2:c.121_132delinsTTGCTCCAGACA ENSP00000401045.2:p.Leu41=
ENST00000539690.1:n.233_244delinsTTGCTCCAGACA
NM_000017.3:c.121_132delinsTTGCTCCAGACA NP_000008.1:p.Leu41=
NM_001302554.1:c.121_132delinsTTGCTCCAGACA NP_001289483.1:p.Leu41=
NM_000017.4:c.121_132delinsTTGCTCCAGACA MANE Select NP_000008.1:p.Leu41=
NM_001302554.2:c.121_132delinsTTGCTCCAGACA NP_001289483.1:p.Leu41=