Canonical Allele Identifier: CA607888251
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs1414852376
gnomAD v2: 12-121177462-G-GCCTCAAGTT
gnomAD v4: 12-120739659-G-GCCTCAAGTT
MyVariant Identifiers: chr12:g.121177462_121177463insCCTCAAGTT (hg19) chr12:g.120739659_120739660insCCTCAAGTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739665_120739673dup , CM000674.2:g.120739665_120739673dup GRCh38
NC_000012.11:g.121177468_121177476dup , CM000674.1:g.121177468_121177476dup GRCh37
NC_000012.10:g.119661851_119661859dup NCBI36
NG_007991.1:g.18898_18906dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*217_*225dup MANE Select ENSP00000242592.4:n.*217_*225dup
ENST00000242592.8:c.*217_*225dup ENSP00000242592.4:n.*217_*225dup
NM_000017.3:c.*217_*225dup NP_000008.1:n.*217_*225dup
NM_001302554.1:c.*217_*225dup NP_001289483.1:n.*217_*225dup
NM_000017.4:c.*217_*225dup MANE Select NP_000008.1:n.*217_*225dup
NM_001302554.2:c.*217_*225dup NP_001289483.1:n.*217_*225dup
Search 100 bp 5'
Search 100 bp 3'