Canonical Allele Identifier: CA2621370543

Gene: ACADS

Linked Data

• gnomAD v4: 12-120739417-C-CGCGCGCTTTGTAGAACGGCGCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739417_120739418insGCGCGCTTTGTAGAACGGCGCGA , CM000674.2:g.120739417_120739418insGCGCGCTTTGTAGAACGGCGCGA	GRCh38
NC_000012.11:g.121177220_121177221insGCGCGCTTTGTAGAACGGCGCGA , CM000674.1:g.121177220_121177221insGCGCGCTTTGTAGAACGGCGCGA	GRCh37
NC_000012.10:g.119661603_119661604insGCGCGCTTTGTAGAACGGCGCGA	NCBI36
NG_007991.1:g.18650_18651insGCGCGCTTTGTAGAACGGCGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1208_1209insGCGCGCTTTGTAGAACGGCGCGA MANE Select	ENSP00000242592.4:p.Gly404ArgfsTer4
ENST00000242592.8:c.1208_1209insGCGCGCTTTGTAGAACGGCGCGA	ENSP00000242592.4:p.Gly404ArgfsTer4
ENST00000411593.2:c.1196_1197insGCGCGCTTTGTAGAACGGCGCGA	ENSP00000401045.2:p.Gly400ArgfsTer4
NM_000017.3:c.1208_1209insGCGCGCTTTGTAGAACGGCGCGA	NP_000008.1:p.Gly404ArgfsTer4
NM_001302554.1:c.1196_1197insGCGCGCTTTGTAGAACGGCGCGA	NP_001289483.1:p.Gly400ArgfsTer4
NM_000017.4:c.1208_1209insGCGCGCTTTGTAGAACGGCGCGA MANE Select	NP_000008.1:p.Gly404ArgfsTer4
NM_001302554.2:c.1196_1197insGCGCGCTTTGTAGAACGGCGCGA	NP_001289483.1:p.Gly400ArgfsTer4