Canonical Allele Identifier: CA658822776

Gene: ACADS

Linked Data

• ClinVar Variation Id: 556422
• ClinVar RCV Id: RCV000672427
• dbSNP Id: rs1555244455
• MyVariant Identifiers: chr12:g.120739422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739422del , CM000674.2:g.120739422del	GRCh38
NC_000012.11:g.121177225del , CM000674.1:g.121177225del	GRCh37
NC_000012.10:g.119661608del	NCBI36
NG_007991.1:g.18655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1213del MANE Select	ENSP00000242592.4:p.His405IlefsTer?
ENST00000242592.8:c.1213del	ENSP00000242592.4:p.His405IlefsTer?
ENST00000411593.2:c.1201del	ENSP00000401045.2:p.His401IlefsTer?
NM_000017.3:c.1213del	NP_000008.1:p.His405IlefsTer?
NM_001302554.1:c.1201del	NP_001289483.1:p.His401IlefsTer?
NM_000017.4:c.1213del MANE Select	NP_000008.1:p.His405IlefsTer?
NM_001302554.2:c.1201del	NP_001289483.1:p.His401IlefsTer?