Canonical Allele Identifier: CA2067555534
Gene: ACADS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738826_120738835delinsTTGGCAGACA , CM000674.2:g.120738826_120738835delinsTTGGCAGACA GRCh38
NC_000012.11:g.121176629_121176638delinsTTGGCAGACA , CM000674.1:g.121176629_121176638delinsTTGGCAGACA GRCh37
NC_000012.10:g.119661012_119661021delinsTTGGCAGACA NCBI36
NG_007991.1:g.18059_18068delinsTTGGCAGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.940_949delinsTTGGCAGACA MANE Select ENSP00000242592.4:p.Leu314=
ENST00000242592.8:c.940_949delinsTTGGCAGACA ENSP00000242592.4:p.Leu314=
ENST00000411593.2:c.928_937delinsTTGGCAGACA ENSP00000401045.2:p.Leu310=
NM_000017.3:c.940_949delinsTTGGCAGACA NP_000008.1:p.Leu314=
NM_001302554.1:c.928_937delinsTTGGCAGACA NP_001289483.1:p.Leu310=
NM_000017.4:c.940_949delinsTTGGCAGACA MANE Select NP_000008.1:p.Leu314=
NM_001302554.2:c.928_937delinsTTGGCAGACA NP_001289483.1:p.Leu310=
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