Canonical Allele Identifier: CA2245709689

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222794_7222814delinsATCCTCAACAATGGAAGGTTT , CM000679.2:g.7222794_7222814delinsATCCTCAACAATGGAAGGTTT	GRCh38
NC_000017.10:g.7126113_7126133delinsATCCTCAACAATGGAAGGTTT , CM000679.1:g.7126113_7126133delinsATCCTCAACAATGGAAGGTTT	GRCh37
NC_000017.9:g.7066837_7066857delinsATCCTCAACAATGGAAGGTTT	NCBI36
NG_007975.1:g.7961_7981delinsATCCTCAACAATGGAAGGTTT
NG_008391.2:g.2237_2257delinsAAACCTTCCATTGTTGAGGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1006_1026delinsATCCTCAACAATGGAAGGTTT MANE Select	ENSP00000349297.5:p.Ile336=
ENST00000322910.9:c.*961_*981delinsATCCTCAACAATGGAAGGTTT	ENSP00000325395.5:n.*961_*981delinsATCCTCAACAATGGAAGGTTT
ENST00000350303.9:c.940_960delinsATCCTCAACAATGGAAGGTTT	ENSP00000344152.5:p.Ile314=
ENST00000356839.9:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	ENSP00000349297.5:p.Ile336=
ENST00000543245.6:c.1075_1095delinsATCCTCAACAATGGAAGGTTT	ENSP00000438689.2:p.Ile359=
ENST00000578824.5:n.155_175delinsATCCTCAACAATGGAAGGTTT
ENST00000581378.5:c.724_744delinsATCCTCAACAATGGAAGGTTT
ENST00000582379.1:n.390_410delinsATCCTCAACAATGGAAGGTTT
ENST00000583858.5:c.35_55delinsATCCTCAACAATGGAAGGTTT
NM_000018.3:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	NP_000009.1:p.Ile336=
NM_001033859.2:c.940_960delinsATCCTCAACAATGGAAGGTTT	NP_001029031.1:p.Ile314=
NM_001270447.1:c.1075_1095delinsATCCTCAACAATGGAAGGTTT	NP_001257376.1:p.Ile359=
NM_001270448.1:c.778_798delinsATCCTCAACAATGGAAGGTTT	NP_001257377.1:p.Ile260=
XM_006721516.2:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	XP_006721579.2:p.Ile336=
XM_011523829.1:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	XP_011522131.1:p.Ile336=
XM_011523830.1:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	XP_011522132.1:p.Ile336=
XR_934021.1:n.1113_1133delinsATCCTCAACAATGGAAGGTTT
XR_934022.1:n.1113_1133delinsATCCTCAACAATGGAAGGTTT
XR_934023.1:n.1113_1133delinsATCCTCAACAATGGAAGGTTT
XM_006721516.3:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	XP_006721579.2:p.Ile336=
XM_011523829.2:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	XP_011522131.1:p.Ile336=
XM_011523830.2:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	XP_011522132.1:p.Ile336=
XM_024450741.1:c.1006_1026delinsATCCTCAACAATGGAAGGTTT	XP_024306509.1:p.Ile336=
XR_934021.2:n.1065_1085delinsATCCTCAACAATGGAAGGTTT
XR_934022.2:n.1065_1085delinsATCCTCAACAATGGAAGGTTT
XR_934023.2:n.1065_1085delinsATCCTCAACAATGGAAGGTTT
NM_000018.4:c.1006_1026delinsATCCTCAACAATGGAAGGTTT MANE Select	NP_000009.1:p.Ile336=
NM_001033859.3:c.940_960delinsATCCTCAACAATGGAAGGTTT	NP_001029031.1:p.Ile314=
NM_001270447.2:c.1075_1095delinsATCCTCAACAATGGAAGGTTT	NP_001257376.1:p.Ile359=
NM_001270448.2:c.778_798delinsATCCTCAACAATGGAAGGTTT	NP_001257377.1:p.Ile260=