Canonical Allele Identifier: CA2695224264

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224659_7224667del , CM000679.2:g.7224659_7224667del	GRCh38
NC_000017.10:g.7127978_7127986del , CM000679.1:g.7127978_7127986del	GRCh37
NC_000017.9:g.7068702_7068710del	NCBI36
NG_007975.1:g.9826_9834del
NG_008391.2:g.388_396del
NG_033038.1:g.14882_14890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1696_1704del MANE Select	ENSP00000349297.5:p.Gln566_Leu568del
ENST00000322910.9:c.*1651_*1659del	ENSP00000325395.5:n.*1651_*1659del
ENST00000350303.9:c.1630_1638del	ENSP00000344152.5:p.Gln544_Leu546del
ENST00000356839.9:c.1696_1704del	ENSP00000349297.5:p.Gln566_Leu568del
ENST00000542255.6:c.537-56_537-48del
ENST00000543245.6:c.1765_1773del	ENSP00000438689.2:p.Gln589_Leu591del
ENST00000578033.1:n.27_35del
ENST00000578319.5:n.277_285del
ENST00000578711.1:n.1155_1163del
ENST00000578809.5:n.268_276del
ENST00000579425.5:n.812_820del
ENST00000579546.1:c.431_439del
ENST00000583074.5:n.300-56_300-48del
ENST00000583848.5:c.65-3_70del
ENST00000583850.5:n.467_475del
ENST00000583858.5:c.627_635del
ENST00000585203.6:n.887_895del
NM_000018.3:c.1696_1704del	NP_000009.1:p.Gln566_Leu568del
NM_001033859.2:c.1630_1638del	NP_001029031.1:p.Gln544_Leu546del
NM_001270447.1:c.1765_1773del	NP_001257376.1:p.Gln589_Leu591del
NM_001270448.1:c.1468_1476del	NP_001257377.1:p.Gln490_Leu492del
XM_006721516.2:c.1679-56_1679-48del	XP_006721579.2:n.1679-56_1679-48del
XM_011523829.1:c.1577-56_1577-48del	XP_011522131.1:n.1577-56_1577-48del
XM_011523830.1:c.1594_1602del	XP_011522132.1:p.Gln532_Leu534del
XR_934021.1:n.1799_1807del
XR_934022.1:n.1705_1713del
XR_934023.1:n.1688-56_1688-48del
XM_006721516.3:c.1679-56_1679-48del	XP_006721579.2:n.1679-56_1679-48del
XM_011523829.2:c.1577-56_1577-48del	XP_011522131.1:n.1577-56_1577-48del
XM_011523830.2:c.1594_1602del	XP_011522132.1:p.Gln532_Leu534del
XM_024450741.1:c.1684_1692del	XP_024306509.1:p.Gln562_Leu564del
XR_934021.2:n.1751_1759del
XR_934022.2:n.1657_1665del
XR_934023.2:n.1640-56_1640-48del
NM_000018.4:c.1696_1704del MANE Select	NP_000009.1:p.Gln566_Leu568del
NM_001033859.3:c.1630_1638del	NP_001029031.1:p.Gln544_Leu546del
NM_001270447.2:c.1765_1773del	NP_001257376.1:p.Gln589_Leu591del
NM_001270448.2:c.1468_1476del	NP_001257377.1:p.Gln490_Leu492del