Canonical Allele Identifier: CA16041573
Gene: ACADS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371289
ClinVar RCV Id: RCV000411215
dbSNP Id: rs1057517155

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739141del , CM000674.2:g.120739141del GRCh38
NC_000012.11:g.121176944del , CM000674.1:g.121176944del GRCh37
NC_000012.10:g.119661327del NCBI36
NG_007991.1:g.18374del

Transcript Alleles

HGVS Amino-acid change
NM_000017.3:c.1031del VV NP_000008.1:p.Glu344GlyfsTer30
NM_001302554.1:c.1019del VV NP_001289483.1:p.Glu340GlyfsTer30
NM_000017.4:c.1031del VV MANE Preferred
ENST00000242592.8:c.1031del ENSP00000242592.4:p.Glu344GlyfsTer30
ENST00000411593.2:c.1019del ENSP00000401045.2:p.Glu340GlyfsTer30