Canonical Allele Identifier: CA2621370343
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739330-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739334_120739335del , CM000674.2:g.120739334_120739335del GRCh38
NC_000012.11:g.121177137_121177138del , CM000674.1:g.121177137_121177138del GRCh37
NC_000012.10:g.119661520_119661521del NCBI36
NG_007991.1:g.18567_18568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1125_1126del MANE Select ENSP00000242592.4:p.Glu375AspfsTer14
ENST00000242592.8:c.1125_1126del ENSP00000242592.4:p.Glu375AspfsTer14
ENST00000411593.2:c.1113_1114del ENSP00000401045.2:p.Glu371AspfsTer14
NM_000017.3:c.1125_1126del NP_000008.1:p.Glu375AspfsTer14
NM_001302554.1:c.1113_1114del NP_001289483.1:p.Glu371AspfsTer14
NM_000017.4:c.1125_1126del MANE Select NP_000008.1:p.Glu375AspfsTer14
NM_001302554.2:c.1113_1114del NP_001289483.1:p.Glu371AspfsTer14
Search 100 bp 5'
Search 100 bp 3'