Canonical Allele Identifier: CA684418533
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 1210802
ClinVar RCV Id: RCV001581524
dbSNP Id: rs1290727105
gnomAD v3: 12-120738828-GGCA-G
gnomAD v4: 12-120738828-GGCA-G
MyVariant Identifiers: chr12:g.121176632_121176634del (hg19) chr12:g.120738829_120738831del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738830_120738832del , CM000674.2:g.120738830_120738832del GRCh38
NC_000012.11:g.121176633_121176635del , CM000674.1:g.121176633_121176635del GRCh37
NC_000012.10:g.119661016_119661018del NCBI36
NG_007991.1:g.18063_18065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.944_946del MANE Select ENSP00000242592.4:p.Ala315del
ENST00000242592.8:c.944_946del ENSP00000242592.4:p.Ala315del
ENST00000411593.2:c.932_934del ENSP00000401045.2:p.Ala311del
NM_000017.3:c.944_946del NP_000008.1:p.Ala315del
NM_001302554.1:c.932_934del NP_001289483.1:p.Ala311del
NM_000017.4:c.944_946del MANE Select NP_000008.1:p.Ala315del
NM_001302554.2:c.932_934del NP_001289483.1:p.Ala311del
Search 100 bp 5'
Search 100 bp 3'