Canonical Allele Identifier: CA2245716378

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1036078
• ClinVar RCV Id: RCV001339031
• dbSNP Id: rs2071413180

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225038_7225041dup , CM000679.2:g.7225038_7225041dup	GRCh38
NC_000017.10:g.7128357_7128360dup , CM000679.1:g.7128357_7128360dup	GRCh37
NC_000017.9:g.7069081_7069084dup	NCBI36
NG_007975.1:g.10205_10208dup
NG_008391.2:g.10_13dup
NG_033038.1:g.14504_14507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1909_1912dup MANE Select	ENSP00000349297.5:p.Ser638TyrfsTer?
ENST00000322910.9:c.*1864_*1867dup	ENSP00000325395.5:n.*1864_*1867dup
ENST00000350303.9:c.1843_1846dup	ENSP00000344152.5:p.Ser616TyrfsTer?
ENST00000356839.9:c.1909_1912dup	ENSP00000349297.5:p.Ser638TyrfsTer?
ENST00000542255.6:c.788_791dup
ENST00000543245.6:c.1978_1981dup	ENSP00000438689.2:p.Ser661TyrfsTer?
ENST00000578033.1:n.334_337dup
ENST00000578319.5:n.490_493dup
ENST00000578711.1:n.1534_1537dup
ENST00000578809.5:n.481_484dup
ENST00000579425.5:n.1025_1028dup
ENST00000583848.5:c.275_278dup	ENSP00000466487.1:n.275_278dup
ENST00000583850.5:n.680_683dup
ENST00000583858.5:c.840_843dup
NM_000018.3:c.1909_1912dup	NP_000009.1:p.Ser638TyrfsTer?
NM_001033859.2:c.1843_1846dup	NP_001029031.1:p.Ser616TyrfsTer?
NM_001270447.1:c.1978_1981dup	NP_001257376.1:p.Ser661TyrfsTer?
NM_001270448.1:c.1681_1684dup	NP_001257377.1:p.Ser562TyrfsTer?
XM_006721516.2:c.1930_1933dup	XP_006721579.2:p.Ser645TyrfsTer?
XM_011523829.1:c.1828_1831dup	XP_011522131.1:p.Ser611TyrfsTer?
XM_011523830.1:c.1807_1810dup	XP_011522132.1:p.Ser604TyrfsTer?
XR_934021.1:n.2012_2015dup
XR_934022.1:n.1918_1921dup
XR_934023.1:n.1939_1942dup
XM_006721516.3:c.1930_1933dup	XP_006721579.2:p.Ser645TyrfsTer?
XM_011523829.2:c.1828_1831dup	XP_011522131.1:p.Ser611TyrfsTer?
XM_011523830.2:c.1807_1810dup	XP_011522132.1:p.Ser604TyrfsTer?
XM_024450741.1:c.1897_1900dup	XP_024306509.1:p.Ser634TyrfsTer?
XR_934021.2:n.1964_1967dup
XR_934022.2:n.1870_1873dup
XR_934023.2:n.1891_1894dup
NM_000018.4:c.1909_1912dup MANE Select	NP_000009.1:p.Ser638TyrfsTer?
NM_001033859.3:c.1843_1846dup	NP_001029031.1:p.Ser616TyrfsTer?
NM_001270447.2:c.1978_1981dup	NP_001257376.1:p.Ser661TyrfsTer?
NM_001270448.2:c.1681_1684dup	NP_001257377.1:p.Ser562TyrfsTer?