Canonical Allele Identifier: CA645372922
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 431801
ClinVar RCV Id: RCV000497466 RCV000984238
dbSNP Id: rs1555244280
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738875_120738876delinsAT , CM000674.2:g.120738875_120738876delinsAT GRCh38
NC_000012.11:g.121176678_121176679delinsAT , CM000674.1:g.121176678_121176679delinsAT GRCh37
NC_000012.10:g.119661061_119661062delinsAT NCBI36
NG_007991.1:g.18108_18109delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.989_990delinsAT MANE Select ENSP00000242592.4:p.Arg330His
ENST00000242592.8:c.989_990delinsAT ENSP00000242592.4:p.Arg330His
ENST00000411593.2:c.977_978delinsAT ENSP00000401045.2:p.Arg326His
NM_000017.3:c.989_990delinsAT NP_000008.1:p.Arg330His
NM_001302554.1:c.977_978delinsAT NP_001289483.1:p.Arg326His
NM_000017.4:c.989_990delinsAT MANE Select NP_000008.1:p.Arg330His
NM_001302554.2:c.977_978delinsAT NP_001289483.1:p.Arg326His
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