Canonical Allele Identifier: CA2621371427

Gene: ACADS

Linked Data

• gnomAD v4: 12-120739700-CGGGGTTGTGGGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739702_120739715del , CM000674.2:g.120739702_120739715del	GRCh38
NC_000012.11:g.121177505_121177518del , CM000674.1:g.121177505_121177518del	GRCh37
NC_000012.10:g.119661888_119661901del	NCBI36
NG_007991.1:g.18935_18948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.*254_*267del MANE Select	ENSP00000242592.4:n.*254_*267del
ENST00000242592.8:c.*254_*267del	ENSP00000242592.4:n.*254_*267del
NM_000017.3:c.*254_*267del	NP_000008.1:n.*254_*267del
NM_001302554.1:c.*254_*267del	NP_001289483.1:n.*254_*267del
NM_000017.4:c.*254_*267del MANE Select	NP_000008.1:n.*254_*267del
NM_001302554.2:c.*254_*267del	NP_001289483.1:n.*254_*267del