Canonical Allele Identifier: CA2621371333

Gene: ACADS

Linked Data

• gnomAD v4: 12-120739691-T-TTTTTTTAATGATA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739691_120739692insTTTTTTAATGATA , CM000674.2:g.120739691_120739692insTTTTTTAATGATA	GRCh38
NC_000012.11:g.121177494_121177495insTTTTTTAATGATA , CM000674.1:g.121177494_121177495insTTTTTTAATGATA	GRCh37
NC_000012.10:g.119661877_119661878insTTTTTTAATGATA	NCBI36
NG_007991.1:g.18924_18925insTTTTTTAATGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.*243_*244insTTTTTTAATGATA MANE Select	ENSP00000242592.4:n.*243_*244insTTTTTTAATGATA
ENST00000242592.8:c.*243_*244insTTTTTTAATGATA	ENSP00000242592.4:n.*243_*244insTTTTTTAATGATA
NM_000017.3:c.*243_*244insTTTTTTAATGATA	NP_000008.1:n.*243_*244insTTTTTTAATGATA
NM_001302554.1:c.*243_*244insTTTTTTAATGATA	NP_001289483.1:n.*243_*244insTTTTTTAATGATA
NM_000017.4:c.*243_*244insTTTTTTAATGATA MANE Select	NP_000008.1:n.*243_*244insTTTTTTAATGATA
NM_001302554.2:c.*243_*244insTTTTTTAATGATA	NP_001289483.1:n.*243_*244insTTTTTTAATGATA