Canonical Allele Identifier: CA2697557226

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2737329
• ClinVar RCV Id: RCV003497366

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221592del , CM000679.2:g.7221592del	GRCh38
NC_000017.10:g.7124911del , CM000679.1:g.7124911del	GRCh37
NC_000017.9:g.7065635del	NCBI36
NG_007975.1:g.6759del
NG_008391.2:g.3461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.532del MANE Select	ENSP00000349297.5:p.Leu178TrpfsTer?
ENST00000322910.9:c.*487del	ENSP00000325395.5:n.*487del
ENST00000350303.9:c.466del	ENSP00000344152.5:p.Leu156TrpfsTer?
ENST00000356839.9:c.532del	ENSP00000349297.5:p.Leu178TrpfsTer?
ENST00000543245.6:c.601del	ENSP00000438689.2:p.Leu201TrpfsTer?
ENST00000577191.5:n.609del
ENST00000577433.5:n.740del
ENST00000577857.5:n.348del
ENST00000579286.5:n.713del
ENST00000579886.2:c.370del	ENSP00000463246.1:p.Leu124TrpfsTer?
ENST00000580365.1:n.263del
ENST00000581378.5:c.250del
ENST00000581562.5:n.525-360del
ENST00000582166.1:n.513del
ENST00000583312.5:c.532del	ENSP00000467920.1:p.Leu178TrpfsTer?
ENST00000583760.1:n.314del
NM_000018.3:c.532del	NP_000009.1:p.Leu178TrpfsTer?
NM_001033859.2:c.466del	NP_001029031.1:p.Leu156TrpfsTer?
NM_001270447.1:c.601del	NP_001257376.1:p.Leu201TrpfsTer?
NM_001270448.1:c.304del	NP_001257377.1:p.Leu102TrpfsTer?
XM_006721516.2:c.532del	XP_006721579.2:p.Leu178TrpfsTer?
XM_011523829.1:c.532del	XP_011522131.1:p.Leu178TrpfsTer?
XM_011523830.1:c.532del	XP_011522132.1:p.Leu178TrpfsTer?
XR_934021.1:n.639del
XR_934022.1:n.639del
XR_934023.1:n.639del
XM_006721516.3:c.532del	XP_006721579.2:p.Leu178TrpfsTer?
XM_011523829.2:c.532del	XP_011522131.1:p.Leu178TrpfsTer?
XM_011523830.2:c.532del	XP_011522132.1:p.Leu178TrpfsTer?
XM_024450741.1:c.532del	XP_024306509.1:p.Leu178TrpfsTer?
XR_934021.2:n.591del
XR_934022.2:n.591del
XR_934023.2:n.591del
NM_000018.4:c.532del MANE Select	NP_000009.1:p.Leu178TrpfsTer?
NM_001033859.3:c.466del	NP_001029031.1:p.Leu156TrpfsTer?
NM_001270447.2:c.601del	NP_001257376.1:p.Leu201TrpfsTer?
NM_001270448.2:c.304del	NP_001257377.1:p.Leu102TrpfsTer?