Canonical Allele Identifier: CA608059761
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 552519
ClinVar RCV Id: RCV000667798 RCV001547320
dbSNP Id: rs1346829948
gnomAD v2: 12-121174903-TGCG-T
gnomAD v3: 12-120737100-TGCG-T
gnomAD v4: 12-120737100-TGCG-T
MyVariant Identifiers: chr12:g.121174904_121174906del (hg19) chr12:g.120737101_120737103del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737101_120737103del , CM000674.2:g.120737101_120737103del GRCh38
NC_000012.11:g.121174904_121174906del , CM000674.1:g.121174904_121174906del GRCh37
NC_000012.10:g.119659287_119659289del NCBI36
NG_007991.1:g.16334_16336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.326_328del MANE Select ENSP00000242592.4:p.Cys109_Ala110delinsSer
ENST00000242592.8:c.326_328del ENSP00000242592.4:p.Cys109_Ala110delinsSer
ENST00000411593.2:c.326_328del ENSP00000401045.2:p.Cys109_Ala110delinsSer
ENST00000539690.1:n.438_440del
NM_000017.3:c.326_328del NP_000008.1:p.Cys109_Ala110delinsSer
NM_001302554.1:c.326_328del NP_001289483.1:p.Cys109_Ala110delinsSer
NM_000017.4:c.326_328del MANE Select NP_000008.1:p.Cys109_Ala110delinsSer
NM_001302554.2:c.326_328del NP_001289483.1:p.Cys109_Ala110delinsSer
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