Canonical Allele Identifier: CA2067555595
Gene: ACADS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738943_120738958delinsCCCAGAATGTGGTGGG , CM000674.2:g.120738943_120738958delinsCCCAGAATGTGGTGGG GRCh38
NC_000012.11:g.121176746_121176761delinsCCCAGAATGTGGTGGG , CM000674.1:g.121176746_121176761delinsCCCAGAATGTGGTGGG GRCh37
NC_000012.10:g.119661129_119661144delinsCCCAGAATGTGGTGGG NCBI36
NG_007991.1:g.18176_18191delinsCCCAGAATGTGGTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1029+28_1029+43delinsCCCAGAATGTGGTGGG MANE Select ENSP00000242592.4:n.1029+28_1029+43delinsCCCAGAATGTGGTGGG
ENST00000242592.8:c.1029+28_1029+43delinsCCCAGAATGTGGTGGG ENSP00000242592.4:n.1029+28_1029+43delinsCCCAGAATGTGGTGGG
ENST00000411593.2:c.1017+28_1017+43delinsCCCAGAATGTGGTGGG ENSP00000401045.2:n.1017+28_1017+43delinsCCCAGAATGTGGTGGG
NM_000017.3:c.1029+28_1029+43delinsCCCAGAATGTGGTGGG NP_000008.1:n.1029+28_1029+43delinsCCCAGAATGTGGTGGG
NM_001302554.1:c.1017+28_1017+43delinsCCCAGAATGTGGTGGG NP_001289483.1:n.1017+28_1017+43delinsCCCAGAATGTGGTGGG
NM_000017.4:c.1029+28_1029+43delinsCCCAGAATGTGGTGGG MANE Select NP_000008.1:n.1029+28_1029+43delinsCCCAGAATGTGGTGGG
NM_001302554.2:c.1017+28_1017+43delinsCCCAGAATGTGGTGGG NP_001289483.1:n.1017+28_1017+43delinsCCCAGAATGTGGTGGG