Canonical Allele Identifier: CA1139665163

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932838
• ClinVar RCV Id: RCV001200792
• dbSNP Id: rs2071412513
• ERepo: CA1139665163/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225025dup , CM000679.2:g.7225025dup	GRCh38
NC_000017.10:g.7128344dup , CM000679.1:g.7128344dup	GRCh37
NC_000017.9:g.7069068dup	NCBI36
NG_007975.1:g.10192dup
NG_008391.2:g.26dup
NG_033038.1:g.14520dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1896dup MANE Select	ENSP00000349297.5:p.Asn633GlnfsTer?
ENST00000322910.9:c.*1851dup	ENSP00000325395.5:n.*1851dup
ENST00000350303.9:c.1830dup	ENSP00000344152.5:p.Asn611GlnfsTer?
ENST00000356839.9:c.1896dup	ENSP00000349297.5:p.Asn633GlnfsTer?
ENST00000542255.6:c.775dup
ENST00000543245.6:c.1965dup	ENSP00000438689.2:p.Asn656GlnfsTer?
ENST00000578033.1:n.321dup
ENST00000578319.5:n.477dup
ENST00000578711.1:n.1521dup
ENST00000578809.5:n.468dup
ENST00000579425.5:n.1012dup
ENST00000583848.5:c.262dup	ENSP00000466487.1:n.262dup
ENST00000583850.5:n.667dup
ENST00000583858.5:c.827dup
NM_000018.3:c.1896dup	NP_000009.1:p.Asn633GlnfsTer?
NM_001033859.2:c.1830dup	NP_001029031.1:p.Asn611GlnfsTer?
NM_001270447.1:c.1965dup	NP_001257376.1:p.Asn656GlnfsTer?
NM_001270448.1:c.1668dup	NP_001257377.1:p.Asn557GlnfsTer?
XM_006721516.2:c.1917dup	XP_006721579.2:p.Asn640GlnfsTer?
XM_011523829.1:c.1815dup	XP_011522131.1:p.Asn606GlnfsTer?
XM_011523830.1:c.1794dup	XP_011522132.1:p.Asn599GlnfsTer?
XR_934021.1:n.1999dup
XR_934022.1:n.1905dup
XR_934023.1:n.1926dup
XM_006721516.3:c.1917dup	XP_006721579.2:p.Asn640GlnfsTer?
XM_011523829.2:c.1815dup	XP_011522131.1:p.Asn606GlnfsTer?
XM_011523830.2:c.1794dup	XP_011522132.1:p.Asn599GlnfsTer?
XM_024450741.1:c.1884dup	XP_024306509.1:p.Asn629GlnfsTer?
XR_934021.2:n.1951dup
XR_934022.2:n.1857dup
XR_934023.2:n.1878dup
NM_000018.4:c.1896dup MANE Select	NP_000009.1:p.Asn633GlnfsTer?
NM_001033859.3:c.1830dup	NP_001029031.1:p.Asn611GlnfsTer?
NM_001270447.2:c.1965dup	NP_001257376.1:p.Asn656GlnfsTer?
NM_001270448.2:c.1668dup	NP_001257377.1:p.Asn557GlnfsTer?