Canonical Allele Identifier: CA2621370180
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739181-CGCCATCA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739186_120739192del , CM000674.2:g.120739186_120739192del GRCh38
NC_000012.11:g.121176989_121176995del , CM000674.1:g.121176989_121176995del GRCh37
NC_000012.10:g.119661372_119661378del NCBI36
NG_007991.1:g.18419_18425del

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1076_1082del MANE Select ENSP00000242592.4:p.Ile359ThrfsTer13
ENST00000242592.8:c.1076_1082del ENSP00000242592.4:p.Ile359ThrfsTer13
ENST00000411593.2:c.1064_1070del ENSP00000401045.2:p.Ile355ThrfsTer13
NM_000017.3:c.1076_1082del NP_000008.1:p.Ile359ThrfsTer13
NM_001302554.1:c.1064_1070del NP_001289483.1:p.Ile355ThrfsTer13
NM_000017.4:c.1076_1082del MANE Select NP_000008.1:p.Ile359ThrfsTer13
NM_001302554.2:c.1064_1070del NP_001289483.1:p.Ile355ThrfsTer13
Search 100 bp 5'
Search 100 bp 3'