Canonical Allele Identifier: CA684418292
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs1225661142
MyVariant Identifiers: chr12:g.121176441del (hg19) chr12:g.120738638del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738641del , CM000674.2:g.120738641del GRCh38
NC_000012.11:g.121176444del , CM000674.1:g.121176444del GRCh37
NC_000012.10:g.119660827del NCBI36
NG_007991.1:g.17874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.904del MANE Select ENSP00000242592.4:p.Ala302ArgfsTer26
ENST00000242592.8:c.904del ENSP00000242592.4:p.Ala302ArgfsTer26
ENST00000411593.2:c.892del ENSP00000401045.2:p.Ala298ArgfsTer26
NM_000017.3:c.904del NP_000008.1:p.Ala302ArgfsTer26
NM_001302554.1:c.892del NP_001289483.1:p.Ala298ArgfsTer26
NM_000017.4:c.904del MANE Select NP_000008.1:p.Ala302ArgfsTer26
NM_001302554.2:c.892del NP_001289483.1:p.Ala298ArgfsTer26
Search 100 bp 5'
Search 100 bp 3'