Canonical Allele Identifier: CA2635781670

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223229-GTAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223231_7223234del , CM000679.2:g.7223231_7223234del	GRCh38
NC_000017.10:g.7126550_7126553del , CM000679.1:g.7126550_7126553del	GRCh37
NC_000017.9:g.7067274_7067277del	NCBI36
NG_007975.1:g.8398_8401del
NG_008391.2:g.1818_1821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1176_1179del MANE Select	ENSP00000349297.5:p.Thr393SerfsTer7
ENST00000322910.9:c.*1131_*1134del	ENSP00000325395.5:n.*1131_*1134del
ENST00000350303.9:c.1110_1113del	ENSP00000344152.5:p.Thr371SerfsTer7
ENST00000356839.9:c.1176_1179del	ENSP00000349297.5:p.Thr393SerfsTer7
ENST00000542255.6:c.34_37del
ENST00000543245.6:c.1245_1248del	ENSP00000438689.2:p.Thr416SerfsTer7
ENST00000578579.2:n.125_128del
ENST00000578824.5:n.592_595del
ENST00000579425.5:n.200_203del
ENST00000579546.1:c.13_16del
ENST00000582379.1:n.827_830del
ENST00000583858.5:c.205_208del
ENST00000585203.6:n.384_387del
NM_000018.3:c.1176_1179del	NP_000009.1:p.Thr393SerfsTer7
NM_001033859.2:c.1110_1113del	NP_001029031.1:p.Thr371SerfsTer7
NM_001270447.1:c.1245_1248del	NP_001257376.1:p.Thr416SerfsTer7
NM_001270448.1:c.948_951del	NP_001257377.1:p.Thr317SerfsTer7
XM_006721516.2:c.1176_1179del	XP_006721579.2:p.Thr393SerfsTer7
XM_011523829.1:c.1176_1179del	XP_011522131.1:p.Thr393SerfsTer7
XM_011523830.1:c.1176_1179del	XP_011522132.1:p.Thr393SerfsTer7
XR_934021.1:n.1283_1286del
XR_934022.1:n.1283_1286del
XR_934023.1:n.1283_1286del
XM_006721516.3:c.1176_1179del	XP_006721579.2:p.Thr393SerfsTer7
XM_011523829.2:c.1176_1179del	XP_011522131.1:p.Thr393SerfsTer7
XM_011523830.2:c.1176_1179del	XP_011522132.1:p.Thr393SerfsTer7
XM_024450741.1:c.1176_1179del	XP_024306509.1:p.Thr393SerfsTer7
XR_934021.2:n.1235_1238del
XR_934022.2:n.1235_1238del
XR_934023.2:n.1235_1238del
NM_000018.4:c.1176_1179del MANE Select	NP_000009.1:p.Thr393SerfsTer7
NM_001033859.3:c.1110_1113del	NP_001029031.1:p.Thr371SerfsTer7
NM_001270447.2:c.1245_1248del	NP_001257376.1:p.Thr416SerfsTer7
NM_001270448.2:c.948_951del	NP_001257377.1:p.Thr317SerfsTer7