Canonical Allele Identifier: CA6831136

Gene: ACADS

Linked Data

• dbSNP Id: rs751692085
• ExAC: 12:121176586 AGCT / A
• gnomAD v2: 12-121176586-AGCT-A
• gnomAD v3: 12-120738783-AGCT-A
• gnomAD v4: 12-120738783-AGCT-A
• MyVariant Identifiers: chr12:g.121176587_121176589del (hg19) ; chr12:g.120738784_120738786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738788_120738790del , CM000674.2:g.120738788_120738790del	GRCh38
NC_000012.11:g.121176591_121176593del , CM000674.1:g.121176591_121176593del	GRCh37
NC_000012.10:g.119660974_119660976del	NCBI36
NG_007991.1:g.18021_18023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.934-32_934-30del MANE Select	ENSP00000242592.4:n.934-32_934-30del
ENST00000242592.8:c.934-32_934-30del	ENSP00000242592.4:n.934-32_934-30del
ENST00000411593.2:c.922-32_922-30del	ENSP00000401045.2:n.922-32_922-30del
NM_000017.3:c.934-32_934-30del	NP_000008.1:n.934-32_934-30del
NM_001302554.1:c.922-32_922-30del	NP_001289483.1:n.922-32_922-30del
NM_000017.4:c.934-32_934-30del MANE Select	NP_000008.1:n.934-32_934-30del
NM_001302554.2:c.922-32_922-30del	NP_001289483.1:n.922-32_922-30del