Canonical Allele Identifier: CA2621371329
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120739689-CCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739691_120739692del , CM000674.2:g.120739691_120739692del GRCh38
NC_000012.11:g.121177494_121177495del , CM000674.1:g.121177494_121177495del GRCh37
NC_000012.10:g.119661877_119661878del NCBI36
NG_007991.1:g.18924_18925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*243_*244del MANE Select ENSP00000242592.4:n.*243_*244del
ENST00000242592.8:c.*243_*244del ENSP00000242592.4:n.*243_*244del
NM_000017.3:c.*243_*244del NP_000008.1:n.*243_*244del
NM_001302554.1:c.*243_*244del NP_001289483.1:n.*243_*244del
NM_000017.4:c.*243_*244del MANE Select NP_000008.1:n.*243_*244del
NM_001302554.2:c.*243_*244del NP_001289483.1:n.*243_*244del
Search 100 bp 5'
Search 100 bp 3'