Canonical Allele Identifier: CA16041571
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 370584
ClinVar RCV Id: RCV000409916
dbSNP Id: rs1057516606

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738647dup , CM000674.2:g.120738647dup GRCh38
NC_000012.11:g.121176450dup , CM000674.1:g.121176450dup GRCh37
NC_000012.10:g.119660833dup NCBI36
NG_007991.1:g.17880dup

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.910dup MANE Select ENSP00000242592.4:p.Leu304ProfsTer?
ENST00000242592.8:c.910dup ENSP00000242592.4:p.Leu304ProfsTer?
ENST00000411593.2:c.898dup ENSP00000401045.2:p.Leu300ProfsTer?
NM_000017.3:c.910dup NP_000008.1:p.Leu304ProfsTer?
NM_001302554.1:c.898dup NP_001289483.1:p.Leu300ProfsTer?
NM_000017.4:c.910dup MANE Select NP_000008.1:p.Leu304ProfsTer?
NM_001302554.2:c.898dup NP_001289483.1:p.Leu300ProfsTer?