Canonical Allele Identifier: CA2245715496

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224784_7224786delinsATT , CM000679.2:g.7224784_7224786delinsATT	GRCh38
NC_000017.10:g.7128103_7128105delinsATT , CM000679.1:g.7128103_7128105delinsATT	GRCh37
NC_000017.9:g.7068827_7068829delinsATT	NCBI36
NG_007975.1:g.9951_9953delinsATT
NG_008391.2:g.265_267delinsAAT
NG_033038.1:g.14759_14761delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1752-25_1752-23delinsATT MANE Select	ENSP00000349297.5:n.1752-25_1752-23delinsATT
ENST00000322910.9:c.*1707-25_*1707-23delinsATT	ENSP00000325395.5:n.*1707-25_*1707-23delinsATT
ENST00000350303.9:c.1686-25_1686-23delinsATT	ENSP00000344152.5:n.1686-25_1686-23delinsATT
ENST00000356839.9:c.1752-25_1752-23delinsATT	ENSP00000349297.5:n.1752-25_1752-23delinsATT
ENST00000542255.6:c.606_608delinsATT
ENST00000543245.6:c.1821-25_1821-23delinsATT	ENSP00000438689.2:n.1821-25_1821-23delinsATT
ENST00000578033.1:n.152_154delinsATT
ENST00000578319.5:n.333-25_333-23delinsATT
ENST00000578711.1:n.1280_1282delinsATT
ENST00000578809.5:n.324-25_324-23delinsATT
ENST00000579425.5:n.868-25_868-23delinsATT
ENST00000579546.1:c.487-25_487-23delinsATT
ENST00000583074.5:n.369_371delinsATT
ENST00000583848.5:c.118-25_118-23delinsATT	ENSP00000466487.1:n.118-25_118-23delinsATT
ENST00000583850.5:n.523-25_523-23delinsATT
ENST00000583858.5:c.683-25_683-23delinsATT
ENST00000585203.6:n.943-25_943-23delinsATT
NM_000018.3:c.1752-25_1752-23delinsATT	NP_000009.1:n.1752-25_1752-23delinsATT
NM_001033859.2:c.1686-25_1686-23delinsATT	NP_001029031.1:n.1686-25_1686-23delinsATT
NM_001270447.1:c.1821-25_1821-23delinsATT	NP_001257376.1:n.1821-25_1821-23delinsATT
NM_001270448.1:c.1524-25_1524-23delinsATT	NP_001257377.1:n.1524-25_1524-23delinsATT
XM_006721516.2:c.1748_1750delinsATT	XP_006721579.2:p.Tyr583=
XM_011523829.1:c.1646_1648delinsATT	XP_011522131.1:p.Tyr549=
XM_011523830.1:c.1650-25_1650-23delinsATT	XP_011522132.1:n.1650-25_1650-23delinsATT
XR_934021.1:n.1855-25_1855-23delinsATT
XR_934022.1:n.1761-25_1761-23delinsATT
XR_934023.1:n.1757_1759delinsATT
XM_006721516.3:c.1748_1750delinsATT	XP_006721579.2:p.Tyr583=
XM_011523829.2:c.1646_1648delinsATT	XP_011522131.1:p.Tyr549=
XM_011523830.2:c.1650-25_1650-23delinsATT	XP_011522132.1:n.1650-25_1650-23delinsATT
XM_024450741.1:c.1740-25_1740-23delinsATT	XP_024306509.1:n.1740-25_1740-23delinsATT
XR_934021.2:n.1807-25_1807-23delinsATT
XR_934022.2:n.1713-25_1713-23delinsATT
XR_934023.2:n.1709_1711delinsATT
NM_000018.4:c.1752-25_1752-23delinsATT MANE Select	NP_000009.1:n.1752-25_1752-23delinsATT
NM_001033859.3:c.1686-25_1686-23delinsATT	NP_001029031.1:n.1686-25_1686-23delinsATT
NM_001270447.2:c.1821-25_1821-23delinsATT	NP_001257376.1:n.1821-25_1821-23delinsATT
NM_001270448.2:c.1524-25_1524-23delinsATT	NP_001257377.1:n.1524-25_1524-23delinsATT