Canonical Allele Identifier: CA2621371309
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739685-CTGGCCTCCTGGGGGCGGGGTTGTGGGGGGGCTGAGCGACACTCAGGGACACCTCAGT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739688_120739744del , CM000674.2:g.120739688_120739744del GRCh38
NC_000012.11:g.121177491_121177547del , CM000674.1:g.121177491_121177547del GRCh37
NC_000012.10:g.119661874_119661930del NCBI36
NG_007991.1:g.18921_18977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*240_*296del MANE Select ENSP00000242592.4:n.*240_*296del
ENST00000242592.8:c.*240_*296del ENSP00000242592.4:n.*240_*296del
NM_000017.3:c.*240_*296del NP_000008.1:n.*240_*296del
NM_001302554.1:c.*240_*296del NP_001289483.1:n.*240_*296del
NM_000017.4:c.*240_*296del MANE Select NP_000008.1:n.*240_*296del
NM_001302554.2:c.*240_*296del NP_001289483.1:n.*240_*296del
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Search 100 bp 3'