Canonical Allele Identifier: CA244495026
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 1269896
ClinVar RCV Id: RCV001684054
dbSNP Id: rs57852948
gnomAD v2: 12-121176803-G-GC
gnomAD v3: 12-120739000-G-GC
gnomAD v4: 12-120739000-G-GC
MyVariant Identifiers: chr12:g.121176803_121176804insC (hg19) chr12:g.120739000_120739001insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739004dup , CM000674.2:g.120739004dup GRCh38
NC_000012.11:g.121176807dup , CM000674.1:g.121176807dup GRCh37
NC_000012.10:g.119661190dup NCBI36
NG_007991.1:g.18237dup

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1029+89dup MANE Select ENSP00000242592.4:n.1029+89dup
ENST00000242592.8:c.1029+89dup ENSP00000242592.4:n.1029+89dup
ENST00000411593.2:c.1017+89dup ENSP00000401045.2:n.1017+89dup
NM_000017.3:c.1029+89dup NP_000008.1:n.1029+89dup
NM_001302554.1:c.1017+89dup NP_001289483.1:n.1017+89dup
NM_000017.4:c.1029+89dup MANE Select NP_000008.1:n.1029+89dup
NM_001302554.2:c.1017+89dup NP_001289483.1:n.1017+89dup
Search 100 bp 5'
Search 100 bp 3'