Canonical Allele Identifier: CA2573154541

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1447373
• ClinVar RCV Id: RCV001979788
• dbSNP Id: rs2142974010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221548dup , CM000679.2:g.7221548dup	GRCh38
NC_000017.10:g.7124867dup , CM000679.1:g.7124867dup	GRCh37
NC_000017.9:g.7065591dup	NCBI36
NG_007975.1:g.6715dup
NG_008391.2:g.3505dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.488dup MANE Select	ENSP00000349297.5:p.Leu163PhefsTer9
ENST00000322910.9:c.*443dup	ENSP00000325395.5:n.*443dup
ENST00000350303.9:c.422dup	ENSP00000344152.5:p.Leu141PhefsTer9
ENST00000356839.9:c.488dup	ENSP00000349297.5:p.Leu163PhefsTer9
ENST00000543245.6:c.557dup	ENSP00000438689.2:p.Leu186PhefsTer9
ENST00000577191.5:n.565dup
ENST00000577433.5:n.696dup
ENST00000577857.5:n.304dup
ENST00000579286.5:n.669dup
ENST00000579886.2:c.326dup	ENSP00000463246.1:p.Leu109PhefsTer9
ENST00000580365.1:n.219dup
ENST00000581378.5:c.206dup
ENST00000581562.5:n.525-404dup
ENST00000582166.1:n.469dup
ENST00000583312.5:c.488dup	ENSP00000467920.1:p.Leu163PhefsTer9
ENST00000583760.1:n.270dup
NM_000018.3:c.488dup	NP_000009.1:p.Leu163PhefsTer9
NM_001033859.2:c.422dup	NP_001029031.1:p.Leu141PhefsTer9
NM_001270447.1:c.557dup	NP_001257376.1:p.Leu186PhefsTer9
NM_001270448.1:c.260dup	NP_001257377.1:p.Leu87PhefsTer9
XM_006721516.2:c.488dup	XP_006721579.2:p.Leu163PhefsTer9
XM_011523829.1:c.488dup	XP_011522131.1:p.Leu163PhefsTer9
XM_011523830.1:c.488dup	XP_011522132.1:p.Leu163PhefsTer9
XR_934021.1:n.595dup
XR_934022.1:n.595dup
XR_934023.1:n.595dup
XM_006721516.3:c.488dup	XP_006721579.2:p.Leu163PhefsTer9
XM_011523829.2:c.488dup	XP_011522131.1:p.Leu163PhefsTer9
XM_011523830.2:c.488dup	XP_011522132.1:p.Leu163PhefsTer9
XM_024450741.1:c.488dup	XP_024306509.1:p.Leu163PhefsTer9
XR_934021.2:n.547dup
XR_934022.2:n.547dup
XR_934023.2:n.547dup
NM_000018.4:c.488dup MANE Select	NP_000009.1:p.Leu163PhefsTer9
NM_001033859.3:c.422dup	NP_001029031.1:p.Leu141PhefsTer9
NM_001270447.2:c.557dup	NP_001257376.1:p.Leu186PhefsTer9
NM_001270448.2:c.260dup	NP_001257377.1:p.Leu87PhefsTer9