Canonical Allele Identifier: CA2067555419
Gene: ACADS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738637_120738638delinsCG , CM000674.2:g.120738637_120738638delinsCG GRCh38
NC_000012.11:g.121176440_121176441delinsCG , CM000674.1:g.121176440_121176441delinsCG GRCh37
NC_000012.10:g.119660823_119660824delinsCG NCBI36
NG_007991.1:g.17870_17871delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.900_901delinsCG MANE Select ENSP00000242592.4:p.Phe300=
ENST00000242592.8:c.900_901delinsCG ENSP00000242592.4:p.Phe300=
ENST00000411593.2:c.888_889delinsCG ENSP00000401045.2:p.Phe296=
NM_000017.3:c.900_901delinsCG NP_000008.1:p.Phe300=
NM_001302554.1:c.888_889delinsCG NP_001289483.1:p.Phe296=
NM_000017.4:c.900_901delinsCG MANE Select NP_000008.1:p.Phe300=
NM_001302554.2:c.888_889delinsCG NP_001289483.1:p.Phe296=
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