Canonical Allele Identifier: CA2621371336

Gene: ACADS

Linked Data

• gnomAD v4: 12-120739692-CCTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739693_120739697del , CM000674.2:g.120739693_120739697del	GRCh38
NC_000012.11:g.121177496_121177500del , CM000674.1:g.121177496_121177500del	GRCh37
NC_000012.10:g.119661879_119661883del	NCBI36
NG_007991.1:g.18926_18930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.*245_*249del MANE Select	ENSP00000242592.4:n.*245_*249del
ENST00000242592.8:c.*245_*249del	ENSP00000242592.4:n.*245_*249del
NM_000017.3:c.*245_*249del	NP_000008.1:n.*245_*249del
NM_001302554.1:c.*245_*249del	NP_001289483.1:n.*245_*249del
NM_000017.4:c.*245_*249del MANE Select	NP_000008.1:n.*245_*249del
NM_001302554.2:c.*245_*249del	NP_001289483.1:n.*245_*249del