Canonical Allele Identifier: CA2580094794
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1724497
ClinVar RCV Id: RCV002309765
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221662_7221665del , CM000679.2:g.7221662_7221665del GRCh38
NC_000017.10:g.7124981_7124984del , CM000679.1:g.7124981_7124984del GRCh37
NC_000017.9:g.7065705_7065708del NCBI36
NG_007975.1:g.6829_6832del
NG_008391.2:g.3387_3390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.602_605del MANE Select ENSP00000349297.5:p.Tyr201SerfsTer15
ENST00000322910.9:c.*557_*560del ENSP00000325395.5:n.*557_*560del
ENST00000350303.9:c.536_539del ENSP00000344152.5:p.Tyr179SerfsTer15
ENST00000356839.9:c.602_605del ENSP00000349297.5:p.Tyr201SerfsTer15
ENST00000543245.6:c.671_674del ENSP00000438689.2:p.Tyr224SerfsTer15
ENST00000577191.5:n.679_682del
ENST00000577857.5:n.418_421del
ENST00000579286.5:n.783_786del
ENST00000579886.2:c.440_443del ENSP00000463246.1:p.Tyr147SerfsTer?
ENST00000580365.1:n.333_336del
ENST00000581378.5:c.320_323del
ENST00000581562.5:n.525-290_525-287del
ENST00000583312.5:c.602_605del ENSP00000467920.1:p.Tyr201SerfsTer20
ENST00000583760.1:n.384_387del
NM_000018.3:c.602_605del NP_000009.1:p.Tyr201SerfsTer15
NM_001033859.2:c.536_539del NP_001029031.1:p.Tyr179SerfsTer15
NM_001270447.1:c.671_674del NP_001257376.1:p.Tyr224SerfsTer15
NM_001270448.1:c.374_377del NP_001257377.1:p.Tyr125SerfsTer15
XM_006721516.2:c.602_605del XP_006721579.2:p.Tyr201SerfsTer15
XM_011523829.1:c.602_605del XP_011522131.1:p.Tyr201SerfsTer15
XM_011523830.1:c.602_605del XP_011522132.1:p.Tyr201SerfsTer15
XR_934021.1:n.709_712del
XR_934022.1:n.709_712del
XR_934023.1:n.709_712del
XM_006721516.3:c.602_605del XP_006721579.2:p.Tyr201SerfsTer15
XM_011523829.2:c.602_605del XP_011522131.1:p.Tyr201SerfsTer15
XM_011523830.2:c.602_605del XP_011522132.1:p.Tyr201SerfsTer15
XM_024450741.1:c.602_605del XP_024306509.1:p.Tyr201SerfsTer15
XR_934021.2:n.661_664del
XR_934022.2:n.661_664del
XR_934023.2:n.661_664del
NM_000018.4:c.602_605del MANE Select NP_000009.1:p.Tyr201SerfsTer15
NM_001033859.3:c.536_539del NP_001029031.1:p.Tyr179SerfsTer15
NM_001270447.2:c.671_674del NP_001257376.1:p.Tyr224SerfsTer15
NM_001270448.2:c.374_377del NP_001257377.1:p.Tyr125SerfsTer15
Search 100 bp 5'
Search 100 bp 3'