Canonical Allele Identifier: CA16041863
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 371321
ClinVar RCV Id: RCV000412387
dbSNP Id: rs1057517180
MyVariant Identifiers: chr17:g.7125998del (hg19) chr17:g.7222679del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222679del , CM000679.2:g.7222679del GRCh38
NC_000017.10:g.7125998del , CM000679.1:g.7125998del GRCh37
NC_000017.9:g.7066722del NCBI36
NG_007975.1:g.7846del
NG_008391.2:g.2372del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.891del MANE Select ENSP00000349297.5:p.Lys298ArgfsTer?
ENST00000322910.9:c.*846del ENSP00000325395.5:n.*846del
ENST00000350303.9:c.825del ENSP00000344152.5:p.Lys276ArgfsTer?
ENST00000356839.9:c.891del ENSP00000349297.5:p.Lys298ArgfsTer?
ENST00000543245.6:c.960del ENSP00000438689.2:p.Lys321ArgfsTer?
ENST00000578824.5:n.40del
ENST00000581378.5:c.609del
ENST00000582379.1:n.275del
NM_000018.3:c.891del NP_000009.1:p.Lys298ArgfsTer?
NM_001033859.2:c.825del NP_001029031.1:p.Lys276ArgfsTer?
NM_001270447.1:c.960del NP_001257376.1:p.Lys321ArgfsTer?
NM_001270448.1:c.663del NP_001257377.1:p.Lys222ArgfsTer?
XM_006721516.2:c.891del XP_006721579.2:p.Lys298ArgfsTer?
XM_011523829.1:c.891del XP_011522131.1:p.Lys298ArgfsTer?
XM_011523830.1:c.891del XP_011522132.1:p.Lys298ArgfsTer?
XR_934021.1:n.998del
XR_934022.1:n.998del
XR_934023.1:n.998del
XM_006721516.3:c.891del XP_006721579.2:p.Lys298ArgfsTer?
XM_011523829.2:c.891del XP_011522131.1:p.Lys298ArgfsTer?
XM_011523830.2:c.891del XP_011522132.1:p.Lys298ArgfsTer?
XM_024450741.1:c.891del XP_024306509.1:p.Lys298ArgfsTer?
XR_934021.2:n.950del
XR_934022.2:n.950del
XR_934023.2:n.950del
NM_000018.4:c.891del MANE Select NP_000009.1:p.Lys298ArgfsTer?
NM_001033859.3:c.825del NP_001029031.1:p.Lys276ArgfsTer?
NM_001270447.2:c.960del NP_001257376.1:p.Lys321ArgfsTer?
NM_001270448.2:c.663del NP_001257377.1:p.Lys222ArgfsTer?
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