Canonical Allele Identifier: CA658822772
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 557876
ClinVar RCV Id: RCV000674073
dbSNP Id: rs1555244266
gnomAD v3: 12-120738826-TTGGCAGACA-T
gnomAD v4: 12-120738826-TTGGCAGACA-T
MyVariant Identifiers: chr12:g.120738831_120738839del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738831_120738839del , CM000674.2:g.120738831_120738839del GRCh38
NC_000012.11:g.121176634_121176642del , CM000674.1:g.121176634_121176642del GRCh37
NC_000012.10:g.119661017_119661025del NCBI36
NG_007991.1:g.18064_18072del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.945_953del MANE Select ENSP00000242592.4:p.Asp316_Ala318del
ENST00000242592.8:c.945_953del ENSP00000242592.4:p.Asp316_Ala318del
ENST00000411593.2:c.933_941del ENSP00000401045.2:p.Asp312_Ala314del
NM_000017.3:c.945_953del NP_000008.1:p.Asp316_Ala318del
NM_001302554.1:c.933_941del NP_001289483.1:p.Asp312_Ala314del
NM_000017.4:c.945_953del MANE Select NP_000008.1:p.Asp316_Ala318del
NM_001302554.2:c.933_941del NP_001289483.1:p.Asp312_Ala314del
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