Canonical Allele Identifier: CA2501456652

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224661_7224665del , CM000679.2:g.7224661_7224665del	GRCh38
NC_000017.10:g.7127980_7127984del , CM000679.1:g.7127980_7127984del	GRCh37
NC_000017.9:g.7068704_7068708del	NCBI36
NG_007975.1:g.9828_9832del
NG_008391.2:g.386_390del
NG_033038.1:g.14880_14884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1698_1702del MANE Select	ENSP00000349297.5:p.Gln566HisfsTer24
ENST00000322910.9:c.*1653_*1657del	ENSP00000325395.5:n.*1653_*1657del
ENST00000350303.9:c.1632_1636del	ENSP00000344152.5:p.Gln544HisfsTer24
ENST00000356839.9:c.1698_1702del	ENSP00000349297.5:p.Gln566HisfsTer24
ENST00000542255.6:c.537-54_537-50del
ENST00000543245.6:c.1767_1771del	ENSP00000438689.2:p.Gln589HisfsTer24
ENST00000578033.1:n.29_33del
ENST00000578319.5:n.279_283del
ENST00000578711.1:n.1157_1161del
ENST00000578809.5:n.270_274del
ENST00000579425.5:n.814_818del
ENST00000579546.1:c.433_437del
ENST00000583074.5:n.300-54_300-50del
ENST00000583848.5:c.65-1_68del
ENST00000583850.5:n.469_473del
ENST00000583858.5:c.629_633del
ENST00000585203.6:n.889_893del
NM_000018.3:c.1698_1702del	NP_000009.1:p.Gln566HisfsTer24
NM_001033859.2:c.1632_1636del	NP_001029031.1:p.Gln544HisfsTer24
NM_001270447.1:c.1767_1771del	NP_001257376.1:p.Gln589HisfsTer24
NM_001270448.1:c.1470_1474del	NP_001257377.1:p.Gln490HisfsTer24
XM_006721516.2:c.1679-54_1679-50del	XP_006721579.2:n.1679-54_1679-50del
XM_011523829.1:c.1577-54_1577-50del	XP_011522131.1:n.1577-54_1577-50del
XM_011523830.1:c.1596_1600del	XP_011522132.1:p.Gln532HisfsTer24
XR_934021.1:n.1801_1805del
XR_934022.1:n.1707_1711del
XR_934023.1:n.1688-54_1688-50del
XM_006721516.3:c.1679-54_1679-50del	XP_006721579.2:n.1679-54_1679-50del
XM_011523829.2:c.1577-54_1577-50del	XP_011522131.1:n.1577-54_1577-50del
XM_011523830.2:c.1596_1600del	XP_011522132.1:p.Gln532HisfsTer24
XM_024450741.1:c.1686_1690del	XP_024306509.1:p.Gln562HisfsTer24
XR_934021.2:n.1753_1757del
XR_934022.2:n.1659_1663del
XR_934023.2:n.1640-54_1640-50del
NM_000018.4:c.1698_1702del MANE Select	NP_000009.1:p.Gln566HisfsTer24
NM_001033859.3:c.1632_1636del	NP_001029031.1:p.Gln544HisfsTer24
NM_001270447.2:c.1767_1771del	NP_001257376.1:p.Gln589HisfsTer24
NM_001270448.2:c.1470_1474del	NP_001257377.1:p.Gln490HisfsTer24