Canonical Allele Identifier: CA2621370967
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739539-GGGGCTCCCTGGGGAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739540_120739554del , CM000674.2:g.120739540_120739554del GRCh38
NC_000012.11:g.121177343_121177357del , CM000674.1:g.121177343_121177357del GRCh37
NC_000012.10:g.119661726_119661740del NCBI36
NG_007991.1:g.18773_18787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*92_*106del MANE Select ENSP00000242592.4:n.*92_*106del
ENST00000242592.8:c.*92_*106del ENSP00000242592.4:n.*92_*106del
ENST00000411593.2:c.*92_*106del ENSP00000401045.2:n.*92_*106del
NM_000017.3:c.*92_*106del NP_000008.1:n.*92_*106del
NM_001302554.1:c.*92_*106del NP_001289483.1:n.*92_*106del
NM_000017.4:c.*92_*106del MANE Select NP_000008.1:n.*92_*106del
NM_001302554.2:c.*92_*106del NP_001289483.1:n.*92_*106del
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Search 100 bp 3'