Canonical Allele Identifier: CA10605595
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 286864
ClinVar RCV Id: RCV000275555
dbSNP Id: rs886043503
MyVariant Identifiers: chr17:g.7125626_7125629del (hg19) chr17:g.7222307_7222310del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222307_7222310del , CM000679.2:g.7222307_7222310del GRCh38
NC_000017.10:g.7125626_7125629del , CM000679.1:g.7125626_7125629del GRCh37
NC_000017.9:g.7066350_7066353del NCBI36
NG_007975.1:g.7474_7477del
NG_008391.2:g.2746_2749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+5_878+8del
ENST00000322910.9:c.*833+5_*833+8del
ENST00000350303.9:c.812+5_812+8del
ENST00000356839.9:c.878+5_878+8del
ENST00000543245.6:c.947+5_947+8del
ENST00000577191.5:n.1055_1058del
ENST00000581378.5:c.596+5_596+8del
ENST00000582379.1:n.262+5_262+8del
NM_000018.3:c.878+5_878+8del
NM_001033859.2:c.812+5_812+8del
NM_001270447.1:c.947+5_947+8del
NM_001270448.1:c.650+5_650+8del
XM_006721516.2:c.878+5_878+8del
XM_011523829.1:c.878+5_878+8del
XM_011523830.1:c.878+5_878+8del
XR_934021.1:n.985+5_985+8del
XR_934022.1:n.985+5_985+8del
XR_934023.1:n.985+5_985+8del
XM_006721516.3:c.878+5_878+8del
XM_011523829.2:c.878+5_878+8del
XM_011523830.2:c.878+5_878+8del
XM_024450741.1:c.878+5_878+8del
XR_934021.2:n.937+5_937+8del
XR_934022.2:n.937+5_937+8del
XR_934023.2:n.937+5_937+8del
NM_000018.4:c.878+5_878+8del
NM_001033859.3:c.812+5_812+8del
NM_001270447.2:c.947+5_947+8del
NM_001270448.2:c.650+5_650+8del
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