Canonical Allele Identifier: CA919784435

Gene: ACADVL

Linked Data

• dbSNP Id: rs1390953609

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223208_7223209insTCTCTCCCCAACA , CM000679.2:g.7223208_7223209insTCTCTCCCCAACA	GRCh38
NC_000017.10:g.7126527_7126528insTCTCTCCCCAACA , CM000679.1:g.7126527_7126528insTCTCTCCCCAACA	GRCh37
NC_000017.9:g.7067251_7067252insTCTCTCCCCAACA	NCBI36
NG_007975.1:g.8375_8376insTCTCTCCCCAACA
NG_008391.2:g.1842_1843insTGTTGGGGAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1153_1154insTCTCTCCCCAACA MANE Select	ENSP00000349297.5:p.Arg385LeufsTer14
ENST00000322910.9:c.*1108_*1109insTCTCTCCCCAACA	ENSP00000325395.5:n.*1108_*1109insTCTCTCCCCAACA
ENST00000350303.9:c.1087_1088insTCTCTCCCCAACA	ENSP00000344152.5:p.Arg363LeufsTer14
ENST00000356839.9:c.1153_1154insTCTCTCCCCAACA	ENSP00000349297.5:p.Arg385LeufsTer14
ENST00000542255.6:c.11_12insTCTCTCCCCAACA
ENST00000543245.6:c.1222_1223insTCTCTCCCCAACA	ENSP00000438689.2:p.Arg408LeufsTer14
ENST00000578579.2:n.102_103insTCTCTCCCCAACA
ENST00000578824.5:n.569_570insTCTCTCCCCAACA
ENST00000579425.5:n.177_178insTCTCTCCCCAACA
ENST00000582379.1:n.804_805insTCTCTCCCCAACA
ENST00000583858.5:c.182_183insTCTCTCCCCAACA
ENST00000585203.6:n.361_362insTCTCTCCCCAACA
NM_000018.3:c.1153_1154insTCTCTCCCCAACA	NP_000009.1:p.Arg385LeufsTer14
NM_001033859.2:c.1087_1088insTCTCTCCCCAACA	NP_001029031.1:p.Arg363LeufsTer14
NM_001270447.1:c.1222_1223insTCTCTCCCCAACA	NP_001257376.1:p.Arg408LeufsTer14
NM_001270448.1:c.925_926insTCTCTCCCCAACA	NP_001257377.1:p.Arg309LeufsTer14
XM_006721516.2:c.1153_1154insTCTCTCCCCAACA	XP_006721579.2:p.Arg385LeufsTer14
XM_011523829.1:c.1153_1154insTCTCTCCCCAACA	XP_011522131.1:p.Arg385LeufsTer14
XM_011523830.1:c.1153_1154insTCTCTCCCCAACA	XP_011522132.1:p.Arg385LeufsTer14
XR_934021.1:n.1260_1261insTCTCTCCCCAACA
XR_934022.1:n.1260_1261insTCTCTCCCCAACA
XR_934023.1:n.1260_1261insTCTCTCCCCAACA
XM_006721516.3:c.1153_1154insTCTCTCCCCAACA	XP_006721579.2:p.Arg385LeufsTer14
XM_011523829.2:c.1153_1154insTCTCTCCCCAACA	XP_011522131.1:p.Arg385LeufsTer14
XM_011523830.2:c.1153_1154insTCTCTCCCCAACA	XP_011522132.1:p.Arg385LeufsTer14
XM_024450741.1:c.1153_1154insTCTCTCCCCAACA	XP_024306509.1:p.Arg385LeufsTer14
XR_934021.2:n.1212_1213insTCTCTCCCCAACA
XR_934022.2:n.1212_1213insTCTCTCCCCAACA
XR_934023.2:n.1212_1213insTCTCTCCCCAACA
NM_000018.4:c.1153_1154insTCTCTCCCCAACA MANE Select	NP_000009.1:p.Arg385LeufsTer14
NM_001033859.3:c.1087_1088insTCTCTCCCCAACA	NP_001029031.1:p.Arg363LeufsTer14
NM_001270447.2:c.1222_1223insTCTCTCCCCAACA	NP_001257376.1:p.Arg408LeufsTer14
NM_001270448.2:c.925_926insTCTCTCCCCAACA	NP_001257377.1:p.Arg309LeufsTer14