Canonical Allele Identifier: CA2697559360

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2769158
• ClinVar RCV Id: RCV003499375

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224986dup , CM000679.2:g.7224986dup	GRCh38
NC_000017.10:g.7128305dup , CM000679.1:g.7128305dup	GRCh37
NC_000017.9:g.7069029dup	NCBI36
NG_007975.1:g.10153dup
NG_008391.2:g.66dup
NG_033038.1:g.14560dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1857dup MANE Select	ENSP00000349297.5:p.Ala620ArgfsTer5
ENST00000322910.9:c.*1812dup	ENSP00000325395.5:n.*1812dup
ENST00000350303.9:c.1791dup	ENSP00000344152.5:p.Ala598ArgfsTer5
ENST00000356839.9:c.1857dup	ENSP00000349297.5:p.Ala620ArgfsTer5
ENST00000542255.6:c.736dup
ENST00000543245.6:c.1926dup	ENSP00000438689.2:p.Ala643ArgfsTer5
ENST00000578033.1:n.282dup
ENST00000578319.5:n.438dup
ENST00000578711.1:n.1482dup
ENST00000578809.5:n.429dup
ENST00000579425.5:n.973dup
ENST00000583848.5:c.223dup	ENSP00000466487.1:n.223dup
ENST00000583850.5:n.628dup
ENST00000583858.5:c.788dup
NM_000018.3:c.1857dup	NP_000009.1:p.Ala620ArgfsTer5
NM_001033859.2:c.1791dup	NP_001029031.1:p.Ala598ArgfsTer5
NM_001270447.1:c.1926dup	NP_001257376.1:p.Ala643ArgfsTer5
NM_001270448.1:c.1629dup	NP_001257377.1:p.Ala544ArgfsTer5
XM_006721516.2:c.1878dup	XP_006721579.2:p.Ala627ArgfsTer5
XM_011523829.1:c.1776dup	XP_011522131.1:p.Ala593ArgfsTer5
XM_011523830.1:c.1755dup	XP_011522132.1:p.Ala586ArgfsTer5
XR_934021.1:n.1960dup
XR_934022.1:n.1866dup
XR_934023.1:n.1887dup
XM_006721516.3:c.1878dup	XP_006721579.2:p.Ala627ArgfsTer5
XM_011523829.2:c.1776dup	XP_011522131.1:p.Ala593ArgfsTer5
XM_011523830.2:c.1755dup	XP_011522132.1:p.Ala586ArgfsTer5
XM_024450741.1:c.1845dup	XP_024306509.1:p.Ala616ArgfsTer5
XR_934021.2:n.1912dup
XR_934022.2:n.1818dup
XR_934023.2:n.1839dup
NM_000018.4:c.1857dup MANE Select	NP_000009.1:p.Ala620ArgfsTer5
NM_001033859.3:c.1791dup	NP_001029031.1:p.Ala598ArgfsTer5
NM_001270447.2:c.1926dup	NP_001257376.1:p.Ala643ArgfsTer5
NM_001270448.2:c.1629dup	NP_001257377.1:p.Ala544ArgfsTer5