Canonical Allele Identifier: CA2697559354
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2767340
ClinVar RCV Id: RCV003499317

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224186dup , CM000679.2:g.7224186dup GRCh38
NC_000017.10:g.7127505dup , CM000679.1:g.7127505dup GRCh37
NC_000017.9:g.7068229dup NCBI36
NG_007975.1:g.9353dup
NG_008391.2:g.867dup
NG_033038.1:g.15361dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1475dup MANE Select ENSP00000349297.5:p.Asn493GlufsTer?
ENST00000322910.9:c.*1430dup ENSP00000325395.5:n.*1430dup
ENST00000350303.9:c.1409dup ENSP00000344152.5:p.Asn471GlufsTer?
ENST00000356839.9:c.1475dup ENSP00000349297.5:p.Asn493GlufsTer?
ENST00000542255.6:c.333dup
ENST00000543245.6:c.1544dup ENSP00000438689.2:p.Asn516GlufsTer?
ENST00000578711.1:n.682dup
ENST00000579391.1:n.83dup
ENST00000579425.5:n.591dup
ENST00000579546.1:c.271+117dup
ENST00000579894.5:n.262dup
ENST00000583074.5:n.153+117dup
ENST00000583850.5:n.250dup
ENST00000583858.5:c.463+117dup
ENST00000585203.6:n.666dup
NM_000018.3:c.1475dup NP_000009.1:p.Asn493GlufsTer?
NM_001033859.2:c.1409dup NP_001029031.1:p.Asn471GlufsTer?
NM_001270447.1:c.1544dup NP_001257376.1:p.Asn516GlufsTer?
NM_001270448.1:c.1247dup NP_001257377.1:p.Asn417GlufsTer?
XM_006721516.2:c.1475dup XP_006721579.2:p.Asn493GlufsTer?
XM_011523829.1:c.1434+117dup XP_011522131.1:n.1434+117dup
XM_011523830.1:c.1434+117dup XP_011522132.1:n.1434+117dup
XR_934021.1:n.1582dup
XR_934022.1:n.1541+117dup
XR_934023.1:n.1541+117dup
XM_006721516.3:c.1475dup XP_006721579.2:p.Asn493GlufsTer?
XM_011523829.2:c.1434+117dup XP_011522131.1:n.1434+117dup
XM_011523830.2:c.1434+117dup XP_011522132.1:n.1434+117dup
XM_024450741.1:c.1434+117dup XP_024306509.1:n.1434+117dup
XR_934021.2:n.1534dup
XR_934022.2:n.1493+117dup
XR_934023.2:n.1493+117dup
NM_000018.4:c.1475dup MANE Select NP_000009.1:p.Asn493GlufsTer?
NM_001033859.3:c.1409dup NP_001029031.1:p.Asn471GlufsTer?
NM_001270447.2:c.1544dup NP_001257376.1:p.Asn516GlufsTer?
NM_001270448.2:c.1247dup NP_001257377.1:p.Asn417GlufsTer?