Canonical Allele Identifier: CA2575321552
Gene: ACADS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739339del , CM000674.2:g.120739339del GRCh38
NC_000012.11:g.121177142del , CM000674.1:g.121177142del GRCh37
NC_000012.10:g.119661525del NCBI36
NG_007991.1:g.18572del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1130del MANE Select ENSP00000242592.4:p.Pro377ArgfsTer25
ENST00000242592.8:c.1130del ENSP00000242592.4:p.Pro377ArgfsTer25
ENST00000411593.2:c.1118del ENSP00000401045.2:p.Pro373ArgfsTer25
NM_000017.3:c.1130del NP_000008.1:p.Pro377ArgfsTer25
NM_001302554.1:c.1118del NP_001289483.1:p.Pro373ArgfsTer25
NM_000017.4:c.1130del MANE Select NP_000008.1:p.Pro377ArgfsTer25
NM_001302554.2:c.1118del NP_001289483.1:p.Pro373ArgfsTer25