Canonical Allele Identifier: CA1139533031

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225047_7225050del , CM000679.2:g.7225047_7225050del	GRCh38
NC_000017.10:g.7128366_7128369del , CM000679.1:g.7128366_7128369del	GRCh37
NC_000017.9:g.7069090_7069093del	NCBI36
NG_007975.1:g.10214_10217del
NG_008391.2:g.1_4del
NG_033038.1:g.14495_14498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1918_1921del MANE Select	ENSP00000349297.5:p.Ala640TrpfsTer?
ENST00000322910.9:c.*1873_*1876del	ENSP00000325395.5:n.*1873_*1876del
ENST00000350303.9:c.1852_1855del	ENSP00000344152.5:p.Ala618TrpfsTer?
ENST00000356839.9:c.1918_1921del	ENSP00000349297.5:p.Ala640TrpfsTer?
ENST00000542255.6:c.797_800del
ENST00000543245.6:c.1987_1990del	ENSP00000438689.2:p.Ala663TrpfsTer?
ENST00000578033.1:n.343_346del
ENST00000578319.5:n.499_502del
ENST00000578711.1:n.1543_1546del
ENST00000578809.5:n.490_493del
ENST00000579425.5:n.1034_1037del
ENST00000583848.5:c.284_287del	ENSP00000466487.1:n.284_287del
ENST00000583850.5:n.689_692del
ENST00000583858.5:c.849_852del
NM_000018.3:c.1918_1921del	NP_000009.1:p.Ala640TrpfsTer?
NM_001033859.2:c.1852_1855del	NP_001029031.1:p.Ala618TrpfsTer?
NM_001270447.1:c.1987_1990del	NP_001257376.1:p.Ala663TrpfsTer?
NM_001270448.1:c.1690_1693del	NP_001257377.1:p.Ala564TrpfsTer?
XM_006721516.2:c.1939_1942del	XP_006721579.2:p.Ala647TrpfsTer?
XM_011523829.1:c.1837_1840del	XP_011522131.1:p.Ala613TrpfsTer?
XM_011523830.1:c.1816_1819del	XP_011522132.1:p.Ala606TrpfsTer?
XR_934021.1:n.2021_2024del
XR_934022.1:n.1927_1930del
XR_934023.1:n.1948_1951del
XM_006721516.3:c.1939_1942del	XP_006721579.2:p.Ala647TrpfsTer?
XM_011523829.2:c.1837_1840del	XP_011522131.1:p.Ala613TrpfsTer?
XM_011523830.2:c.1816_1819del	XP_011522132.1:p.Ala606TrpfsTer?
XM_024450741.1:c.1906_1909del	XP_024306509.1:p.Ala636TrpfsTer?
XR_934021.2:n.1973_1976del
XR_934022.2:n.1879_1882del
XR_934023.2:n.1900_1903del
NM_000018.4:c.1918_1921del MANE Select	NP_000009.1:p.Ala640TrpfsTer?
NM_001033859.3:c.1852_1855del	NP_001029031.1:p.Ala618TrpfsTer?
NM_001270447.2:c.1987_1990del	NP_001257376.1:p.Ala663TrpfsTer?
NM_001270448.2:c.1690_1693del	NP_001257377.1:p.Ala564TrpfsTer?