Canonical Allele Identifier: CA2245715030

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224645_7224647delinsAAC , CM000679.2:g.7224645_7224647delinsAAC	GRCh38
NC_000017.10:g.7127964_7127966delinsAAC , CM000679.1:g.7127964_7127966delinsAAC	GRCh37
NC_000017.9:g.7068688_7068690delinsAAC	NCBI36
NG_007975.1:g.9812_9814delinsAAC
NG_008391.2:g.404_406delinsGTT
NG_033038.1:g.14898_14900delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1682_1684delinsAAC MANE Select	ENSP00000349297.5:p.Glu561=
ENST00000322910.9:c.*1637_*1639delinsAAC	ENSP00000325395.5:n.*1637_*1639delinsAAC
ENST00000350303.9:c.1616_1618delinsAAC	ENSP00000344152.5:p.Glu539=
ENST00000356839.9:c.1682_1684delinsAAC	ENSP00000349297.5:p.Glu561=
ENST00000542255.6:c.537-70_537-68delinsAAC
ENST00000543245.6:c.1751_1753delinsAAC	ENSP00000438689.2:p.Glu584=
ENST00000578033.1:n.13_15delinsAAC
ENST00000578319.5:n.263_265delinsAAC
ENST00000578711.1:n.1141_1143delinsAAC
ENST00000578809.5:n.254_256delinsAAC
ENST00000579425.5:n.798_800delinsAAC
ENST00000579546.1:c.417_419delinsAAC
ENST00000582450.1:n.279_281delinsAAC
ENST00000583074.5:n.300-70_300-68delinsAAC
ENST00000583848.5:c.65-17_65-15delinsAAC	ENSP00000466487.1:n.65-17_65-15delinsAAC
ENST00000583850.5:n.453_455delinsAAC
ENST00000583858.5:c.613_615delinsAAC
ENST00000585203.6:n.873_875delinsAAC
NM_000018.3:c.1682_1684delinsAAC	NP_000009.1:p.Glu561=
NM_001033859.2:c.1616_1618delinsAAC	NP_001029031.1:p.Glu539=
NM_001270447.1:c.1751_1753delinsAAC	NP_001257376.1:p.Glu584=
NM_001270448.1:c.1454_1456delinsAAC	NP_001257377.1:p.Glu485=
XM_006721516.2:c.1679-70_1679-68delinsAAC	XP_006721579.2:n.1679-70_1679-68delinsAAC
XM_011523829.1:c.1577-70_1577-68delinsAAC	XP_011522131.1:n.1577-70_1577-68delinsAAC
XM_011523830.1:c.1580_1582delinsAAC	XP_011522132.1:p.Glu527=
XR_934021.1:n.1785_1787delinsAAC
XR_934022.1:n.1691_1693delinsAAC
XR_934023.1:n.1688-70_1688-68delinsAAC
XM_006721516.3:c.1679-70_1679-68delinsAAC	XP_006721579.2:n.1679-70_1679-68delinsAAC
XM_011523829.2:c.1577-70_1577-68delinsAAC	XP_011522131.1:n.1577-70_1577-68delinsAAC
XM_011523830.2:c.1580_1582delinsAAC	XP_011522132.1:p.Glu527=
XM_024450741.1:c.1670_1672delinsAAC	XP_024306509.1:p.Glu557=
XR_934021.2:n.1737_1739delinsAAC
XR_934022.2:n.1643_1645delinsAAC
XR_934023.2:n.1640-70_1640-68delinsAAC
NM_000018.4:c.1682_1684delinsAAC MANE Select	NP_000009.1:p.Glu561=
NM_001033859.3:c.1616_1618delinsAAC	NP_001029031.1:p.Glu539=
NM_001270447.2:c.1751_1753delinsAAC	NP_001257376.1:p.Glu584=
NM_001270448.2:c.1454_1456delinsAAC	NP_001257377.1:p.Glu485=