Canonical Allele Identifier: CA2621370555

Gene: ACADS

Linked Data

• gnomAD v4: 12-120739420-G-GGCGCCGGTGGTGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739422_120739423insGCCGGTGGTGGCCGC , CM000674.2:g.120739422_120739423insGCCGGTGGTGGCCGC	GRCh38
NC_000012.11:g.121177225_121177226insGCCGGTGGTGGCCGC , CM000674.1:g.121177225_121177226insGCCGGTGGTGGCCGC	GRCh37
NC_000012.10:g.119661608_119661609insGCCGGTGGTGGCCGC	NCBI36
NG_007991.1:g.18655_18656insGCCGGTGGTGGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1213_1214insGCCGGTGGTGGCCGC MANE Select	ENSP00000242592.4:p.Gly404_His405insArgArgTrpTrpPro
ENST00000242592.8:c.1213_1214insGCCGGTGGTGGCCGC	ENSP00000242592.4:p.Gly404_His405insArgArgTrpTrpPro
ENST00000411593.2:c.1201_1202insGCCGGTGGTGGCCGC	ENSP00000401045.2:p.Gly400_His401insArgArgTrpTrpPro
NM_000017.3:c.1213_1214insGCCGGTGGTGGCCGC	NP_000008.1:p.Gly404_His405insArgArgTrpTrpPro
NM_001302554.1:c.1201_1202insGCCGGTGGTGGCCGC	NP_001289483.1:p.Gly400_His401insArgArgTrpTrpPro
NM_000017.4:c.1213_1214insGCCGGTGGTGGCCGC MANE Select	NP_000008.1:p.Gly404_His405insArgArgTrpTrpPro
NM_001302554.2:c.1201_1202insGCCGGTGGTGGCCGC	NP_001289483.1:p.Gly400_His401insArgArgTrpTrpPro