Canonical Allele Identifier: CA2245710734

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223246_7223252delinsCTCCCAA , CM000679.2:g.7223246_7223252delinsCTCCCAA	GRCh38
NC_000017.10:g.7126565_7126571delinsCTCCCAA , CM000679.1:g.7126565_7126571delinsCTCCCAA	GRCh37
NC_000017.9:g.7067289_7067295delinsCTCCCAA	NCBI36
NG_007975.1:g.8413_8419delinsCTCCCAA
NG_008391.2:g.1799_1805delinsTTGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182+9_1182+15delinsCTCCCAA MANE Select	ENSP00000349297.5:n.1182+9_1182+15delinsCTCCCAA
ENST00000322910.9:c.*1137+9_*1137+15delinsCTCCCAA	ENSP00000325395.5:n.*1137+9_*1137+15delinsCTCCCAA
ENST00000350303.9:c.1116+9_1116+15delinsCTCCCAA	ENSP00000344152.5:n.1116+9_1116+15delinsCTCCCAA
ENST00000356839.9:c.1182+9_1182+15delinsCTCCCAA	ENSP00000349297.5:n.1182+9_1182+15delinsCTCCCAA
ENST00000542255.6:c.40+9_40+15delinsCTCCCAA
ENST00000543245.6:c.1251+9_1251+15delinsCTCCCAA	ENSP00000438689.2:n.1251+9_1251+15delinsCTCCCAA
ENST00000578579.2:n.131+9_131+15delinsCTCCCAA
ENST00000578824.5:n.598+9_598+15delinsCTCCCAA
ENST00000579425.5:n.206+9_206+15delinsCTCCCAA
ENST00000579546.1:c.19+9_19+15delinsCTCCCAA
ENST00000583858.5:c.211+9_211+15delinsCTCCCAA
ENST00000585203.6:n.390+9_390+15delinsCTCCCAA
NM_000018.3:c.1182+9_1182+15delinsCTCCCAA	NP_000009.1:n.1182+9_1182+15delinsCTCCCAA
NM_001033859.2:c.1116+9_1116+15delinsCTCCCAA	NP_001029031.1:n.1116+9_1116+15delinsCTCCCAA
NM_001270447.1:c.1251+9_1251+15delinsCTCCCAA	NP_001257376.1:n.1251+9_1251+15delinsCTCCCAA
NM_001270448.1:c.954+9_954+15delinsCTCCCAA	NP_001257377.1:n.954+9_954+15delinsCTCCCAA
XM_006721516.2:c.1182+9_1182+15delinsCTCCCAA	XP_006721579.2:n.1182+9_1182+15delinsCTCCCAA
XM_011523829.1:c.1182+9_1182+15delinsCTCCCAA	XP_011522131.1:n.1182+9_1182+15delinsCTCCCAA
XM_011523830.1:c.1182+9_1182+15delinsCTCCCAA	XP_011522132.1:n.1182+9_1182+15delinsCTCCCAA
XR_934021.1:n.1289+9_1289+15delinsCTCCCAA
XR_934022.1:n.1289+9_1289+15delinsCTCCCAA
XR_934023.1:n.1289+9_1289+15delinsCTCCCAA
XM_006721516.3:c.1182+9_1182+15delinsCTCCCAA	XP_006721579.2:n.1182+9_1182+15delinsCTCCCAA
XM_011523829.2:c.1182+9_1182+15delinsCTCCCAA	XP_011522131.1:n.1182+9_1182+15delinsCTCCCAA
XM_011523830.2:c.1182+9_1182+15delinsCTCCCAA	XP_011522132.1:n.1182+9_1182+15delinsCTCCCAA
XM_024450741.1:c.1182+9_1182+15delinsCTCCCAA	XP_024306509.1:n.1182+9_1182+15delinsCTCCCAA
XR_934021.2:n.1241+9_1241+15delinsCTCCCAA
XR_934022.2:n.1241+9_1241+15delinsCTCCCAA
XR_934023.2:n.1241+9_1241+15delinsCTCCCAA
NM_000018.4:c.1182+9_1182+15delinsCTCCCAA MANE Select	NP_000009.1:n.1182+9_1182+15delinsCTCCCAA
NM_001033859.3:c.1116+9_1116+15delinsCTCCCAA	NP_001029031.1:n.1116+9_1116+15delinsCTCCCAA
NM_001270447.2:c.1251+9_1251+15delinsCTCCCAA	NP_001257376.1:n.1251+9_1251+15delinsCTCCCAA
NM_001270448.2:c.954+9_954+15delinsCTCCCAA	NP_001257377.1:n.954+9_954+15delinsCTCCCAA