Canonical Allele Identifier: CA2621370544

Gene: ACADS

Linked Data

• gnomAD v4: 12-120739417-C-CCCGCGCCTTGTAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739418_120739419insCGCGCCTTGTAAGC , CM000674.2:g.120739418_120739419insCGCGCCTTGTAAGC	GRCh38
NC_000012.11:g.121177221_121177222insCGCGCCTTGTAAGC , CM000674.1:g.121177221_121177222insCGCGCCTTGTAAGC	GRCh37
NC_000012.10:g.119661604_119661605insCGCGCCTTGTAAGC	NCBI36
NG_007991.1:g.18651_18652insCGCGCCTTGTAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1209_1210insCGCGCCTTGTAAGC MANE Select	ENSP00000242592.4:p.Gly404ArgfsTer4
ENST00000242592.8:c.1209_1210insCGCGCCTTGTAAGC	ENSP00000242592.4:p.Gly404ArgfsTer4
ENST00000411593.2:c.1197_1198insCGCGCCTTGTAAGC	ENSP00000401045.2:p.Gly400ArgfsTer4
NM_000017.3:c.1209_1210insCGCGCCTTGTAAGC	NP_000008.1:p.Gly404ArgfsTer4
NM_001302554.1:c.1197_1198insCGCGCCTTGTAAGC	NP_001289483.1:p.Gly400ArgfsTer4
NM_000017.4:c.1209_1210insCGCGCCTTGTAAGC MANE Select	NP_000008.1:p.Gly404ArgfsTer4
NM_001302554.2:c.1197_1198insCGCGCCTTGTAAGC	NP_001289483.1:p.Gly400ArgfsTer4