Canonical Allele Identifier: CA916083337
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 862895
ClinVar RCV Id: RCV001069728
dbSNP Id: rs1883462118
gnomAD v3: 12-120736987-TGAA-T
gnomAD v4: 12-120736987-TGAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120736993_120736995del , CM000674.2:g.120736993_120736995del GRCh38
NC_000012.11:g.121174796_121174798del , CM000674.1:g.121174796_121174798del GRCh37
NC_000012.10:g.119659179_119659181del NCBI36
NG_007991.1:g.16226_16228del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.218_220del MANE Select ENSP00000242592.4:p.Lys73del
ENST00000242592.8:c.218_220del ENSP00000242592.4:p.Lys73del
ENST00000411593.2:c.218_220del ENSP00000401045.2:p.Lys73del
ENST00000539690.1:n.330_332del
NM_000017.3:c.218_220del NP_000008.1:p.Lys73del
NM_001302554.1:c.218_220del NP_001289483.1:p.Lys73del
NM_000017.4:c.218_220del MANE Select NP_000008.1:p.Lys73del
NM_001302554.2:c.218_220del NP_001289483.1:p.Lys73del
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