Canonical Allele Identifier: CA2621368661
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120738643-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738647del , CM000674.2:g.120738647del GRCh38
NC_000012.11:g.121176450del , CM000674.1:g.121176450del GRCh37
NC_000012.10:g.119660833del NCBI36
NG_007991.1:g.17880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.910del MANE Select ENSP00000242592.4:p.Leu304SerfsTer24
ENST00000242592.8:c.910del ENSP00000242592.4:p.Leu304SerfsTer24
ENST00000411593.2:c.898del ENSP00000401045.2:p.Leu300SerfsTer24
NM_000017.3:c.910del NP_000008.1:p.Leu304SerfsTer24
NM_001302554.1:c.898del NP_001289483.1:p.Leu300SerfsTer24
NM_000017.4:c.910del MANE Select NP_000008.1:p.Leu304SerfsTer24
NM_001302554.2:c.898del NP_001289483.1:p.Leu300SerfsTer24
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Search 100 bp 3'