Canonical Allele Identifier: CA2245711026

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223406_7223407delinsAT , CM000679.2:g.7223406_7223407delinsAT	GRCh38
NC_000017.10:g.7126725_7126726delinsAT , CM000679.1:g.7126725_7126726delinsAT	GRCh37
NC_000017.9:g.7067449_7067450delinsAT	NCBI36
NG_007975.1:g.8573_8574delinsAT
NG_008391.2:g.1644_1645delinsAT
NG_033038.1:g.16138_16139delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+169_1182+170delinsAT MANE Select	ENSP00000349297.5:n.1182+169_1182+170delinsAT
ENST00000322910.9:c.*1137+169_*1137+170delinsAT	ENSP00000325395.5:n.*1137+169_*1137+170delinsAT
ENST00000350303.9:c.1116+169_1116+170delinsAT	ENSP00000344152.5:n.1116+169_1116+170delinsAT
ENST00000356839.9:c.1182+169_1182+170delinsAT	ENSP00000349297.5:n.1182+169_1182+170delinsAT
ENST00000542255.6:c.40+169_40+170delinsAT
ENST00000543245.6:c.1251+169_1251+170delinsAT	ENSP00000438689.2:n.1251+169_1251+170delinsAT
ENST00000578579.2:n.132-16_132-15delinsAT
ENST00000578824.5:n.598+169_598+170delinsAT
ENST00000579425.5:n.206+169_206+170delinsAT
ENST00000579546.1:c.19+169_19+170delinsAT
ENST00000583858.5:c.211+169_211+170delinsAT
ENST00000585203.6:n.390+169_390+170delinsAT
NM_000018.3:c.1182+169_1182+170delinsAT	NP_000009.1:n.1182+169_1182+170delinsAT
NM_001033859.2:c.1116+169_1116+170delinsAT	NP_001029031.1:n.1116+169_1116+170delinsAT
NM_001270447.1:c.1251+169_1251+170delinsAT	NP_001257376.1:n.1251+169_1251+170delinsAT
NM_001270448.1:c.954+169_954+170delinsAT	NP_001257377.1:n.954+169_954+170delinsAT
XM_006721516.2:c.1182+169_1182+170delinsAT	XP_006721579.2:n.1182+169_1182+170delinsAT
XM_011523829.1:c.1182+169_1182+170delinsAT	XP_011522131.1:n.1182+169_1182+170delinsAT
XM_011523830.1:c.1182+169_1182+170delinsAT	XP_011522132.1:n.1182+169_1182+170delinsAT
XR_934021.1:n.1289+169_1289+170delinsAT
XR_934022.1:n.1289+169_1289+170delinsAT
XR_934023.1:n.1289+169_1289+170delinsAT
XM_006721516.3:c.1182+169_1182+170delinsAT	XP_006721579.2:n.1182+169_1182+170delinsAT
XM_011523829.2:c.1182+169_1182+170delinsAT	XP_011522131.1:n.1182+169_1182+170delinsAT
XM_011523830.2:c.1182+169_1182+170delinsAT	XP_011522132.1:n.1182+169_1182+170delinsAT
XM_024450741.1:c.1182+169_1182+170delinsAT	XP_024306509.1:n.1182+169_1182+170delinsAT
XR_934021.2:n.1241+169_1241+170delinsAT
XR_934022.2:n.1241+169_1241+170delinsAT
XR_934023.2:n.1241+169_1241+170delinsAT
NM_000018.4:c.1182+169_1182+170delinsAT MANE Select	NP_000009.1:n.1182+169_1182+170delinsAT
NM_001033859.3:c.1116+169_1116+170delinsAT	NP_001029031.1:n.1116+169_1116+170delinsAT
NM_001270447.2:c.1251+169_1251+170delinsAT	NP_001257376.1:n.1251+169_1251+170delinsAT
NM_001270448.2:c.954+169_954+170delinsAT	NP_001257377.1:n.954+169_954+170delinsAT