Canonical Allele Identifier: CA2245715173

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224690_7224701delinsATGCCATGGTGG , CM000679.2:g.7224690_7224701delinsATGCCATGGTGG	GRCh38
NC_000017.10:g.7128009_7128020delinsATGCCATGGTGG , CM000679.1:g.7128009_7128020delinsATGCCATGGTGG	GRCh37
NC_000017.9:g.7068733_7068744delinsATGCCATGGTGG	NCBI36
NG_007975.1:g.9857_9868delinsATGCCATGGTGG
NG_008391.2:g.350_361delinsCCACCATGGCAT
NG_033038.1:g.14844_14855delinsCCACCATGGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1727_1738delinsATGCCATGGTGG MANE Select	ENSP00000349297.5:p.Tyr576=
ENST00000322910.9:c.*1682_*1693delinsATGCCATGGTGG	ENSP00000325395.5:n.*1682_*1693delinsATGCCATGGTGG
ENST00000350303.9:c.1661_1672delinsATGCCATGGTGG	ENSP00000344152.5:p.Tyr554=
ENST00000356839.9:c.1727_1738delinsATGCCATGGTGG	ENSP00000349297.5:p.Tyr576=
ENST00000542255.6:c.537-25_537-14delinsATGCCATGGTGG
ENST00000543245.6:c.1796_1807delinsATGCCATGGTGG	ENSP00000438689.2:p.Tyr599=
ENST00000578033.1:n.58_69delinsATGCCATGGTGG
ENST00000578319.5:n.308_319delinsATGCCATGGTGG
ENST00000578711.1:n.1186_1197delinsATGCCATGGTGG
ENST00000578809.5:n.299_310delinsATGCCATGGTGG
ENST00000579425.5:n.843_854delinsATGCCATGGTGG
ENST00000579546.1:c.462_473delinsATGCCATGGTGG
ENST00000583074.5:n.300-25_300-14delinsATGCCATGGTGG
ENST00000583848.5:c.93_104delinsATGCCATGGTGG	ENSP00000466487.1:p.Leu31=
ENST00000583850.5:n.498_509delinsATGCCATGGTGG
ENST00000583858.5:c.658_669delinsATGCCATGGTGG
ENST00000585203.6:n.918_929delinsATGCCATGGTGG
NM_000018.3:c.1727_1738delinsATGCCATGGTGG	NP_000009.1:p.Tyr576=
NM_001033859.2:c.1661_1672delinsATGCCATGGTGG	NP_001029031.1:p.Tyr554=
NM_001270447.1:c.1796_1807delinsATGCCATGGTGG	NP_001257376.1:p.Tyr599=
NM_001270448.1:c.1499_1510delinsATGCCATGGTGG	NP_001257377.1:p.Tyr500=
XM_006721516.2:c.1679-25_1679-14delinsATGCCATGGTGG	XP_006721579.2:n.1679-25_1679-14delinsATGCCATGGTGG
XM_011523829.1:c.1577-25_1577-14delinsATGCCATGGTGG	XP_011522131.1:n.1577-25_1577-14delinsATGCCATGGTGG
XM_011523830.1:c.1625_1636delinsATGCCATGGTGG	XP_011522132.1:p.Tyr542=
XR_934021.1:n.1830_1841delinsATGCCATGGTGG
XR_934022.1:n.1736_1747delinsATGCCATGGTGG
XR_934023.1:n.1688-25_1688-14delinsATGCCATGGTGG
XM_006721516.3:c.1679-25_1679-14delinsATGCCATGGTGG	XP_006721579.2:n.1679-25_1679-14delinsATGCCATGGTGG
XM_011523829.2:c.1577-25_1577-14delinsATGCCATGGTGG	XP_011522131.1:n.1577-25_1577-14delinsATGCCATGGTGG
XM_011523830.2:c.1625_1636delinsATGCCATGGTGG	XP_011522132.1:p.Tyr542=
XM_024450741.1:c.1715_1726delinsATGCCATGGTGG	XP_024306509.1:p.Tyr572=
XR_934021.2:n.1782_1793delinsATGCCATGGTGG
XR_934022.2:n.1688_1699delinsATGCCATGGTGG
XR_934023.2:n.1640-25_1640-14delinsATGCCATGGTGG
NM_000018.4:c.1727_1738delinsATGCCATGGTGG MANE Select	NP_000009.1:p.Tyr576=
NM_001033859.3:c.1661_1672delinsATGCCATGGTGG	NP_001029031.1:p.Tyr554=
NM_001270447.2:c.1796_1807delinsATGCCATGGTGG	NP_001257376.1:p.Tyr599=
NM_001270448.2:c.1499_1510delinsATGCCATGGTGG	NP_001257377.1:p.Tyr500=