Canonical Allele Identifier: CA658655608

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224671_7224680dup , CM000679.2:g.7224671_7224680dup	GRCh38
NC_000017.10:g.7127990_7127999dup , CM000679.1:g.7127990_7127999dup	GRCh37
NC_000017.9:g.7068714_7068723dup	NCBI36
NG_007975.1:g.9838_9847dup
NG_008391.2:g.373_382dup
NG_033038.1:g.14867_14876dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1708_1717dup MANE Select	ENSP00000349297.5:p.Ile573ArgfsTer22
ENST00000322910.9:c.*1663_*1672dup	ENSP00000325395.5:n.*1663_*1672dup
ENST00000350303.9:c.1642_1651dup	ENSP00000344152.5:p.Ile551ArgfsTer22
ENST00000356839.9:c.1708_1717dup	ENSP00000349297.5:p.Ile573ArgfsTer22
ENST00000542255.6:c.537-44_537-35dup
ENST00000543245.6:c.1777_1786dup	ENSP00000438689.2:p.Ile596ArgfsTer22
ENST00000578033.1:n.39_48dup
ENST00000578319.5:n.289_298dup
ENST00000578711.1:n.1167_1176dup
ENST00000578809.5:n.280_289dup
ENST00000579425.5:n.824_833dup
ENST00000579546.1:c.443_452dup
ENST00000583074.5:n.300-44_300-35dup
ENST00000583848.5:c.74_83dup	ENSP00000466487.1:p.His28GlnfsTer21
ENST00000583850.5:n.479_488dup
ENST00000583858.5:c.639_648dup
ENST00000585203.6:n.899_908dup
NM_000018.3:c.1708_1717dup	NP_000009.1:p.Ile573ArgfsTer22
NM_001033859.2:c.1642_1651dup	NP_001029031.1:p.Ile551ArgfsTer22
NM_001270447.1:c.1777_1786dup	NP_001257376.1:p.Ile596ArgfsTer22
NM_001270448.1:c.1480_1489dup	NP_001257377.1:p.Ile497ArgfsTer22
XM_006721516.2:c.1679-44_1679-35dup	XP_006721579.2:n.1679-44_1679-35dup
XM_011523829.1:c.1577-44_1577-35dup	XP_011522131.1:n.1577-44_1577-35dup
XM_011523830.1:c.1606_1615dup	XP_011522132.1:p.Ile539ArgfsTer22
XR_934021.1:n.1811_1820dup
XR_934022.1:n.1717_1726dup
XR_934023.1:n.1688-44_1688-35dup
XM_006721516.3:c.1679-44_1679-35dup	XP_006721579.2:n.1679-44_1679-35dup
XM_011523829.2:c.1577-44_1577-35dup	XP_011522131.1:n.1577-44_1577-35dup
XM_011523830.2:c.1606_1615dup	XP_011522132.1:p.Ile539ArgfsTer22
XM_024450741.1:c.1696_1705dup	XP_024306509.1:p.Ile569ArgfsTer22
XR_934021.2:n.1763_1772dup
XR_934022.2:n.1669_1678dup
XR_934023.2:n.1640-44_1640-35dup
NM_000018.4:c.1708_1717dup MANE Select	NP_000009.1:p.Ile573ArgfsTer22
NM_001033859.3:c.1642_1651dup	NP_001029031.1:p.Ile551ArgfsTer22
NM_001270447.2:c.1777_1786dup	NP_001257376.1:p.Ile596ArgfsTer22
NM_001270448.2:c.1480_1489dup	NP_001257377.1:p.Ile497ArgfsTer22