Canonical Allele Identifier: CA913013644

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126527_7126528del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223208_7223209del , CM000679.2:g.7223208_7223209del	GRCh38
NC_000017.10:g.7126527_7126528del , CM000679.1:g.7126527_7126528del	GRCh37
NC_000017.9:g.7067251_7067252del	NCBI36
NG_007975.1:g.8375_8376del
NG_008391.2:g.1842_1843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1153_1154del MANE Select	ENSP00000349297.5:p.Arg385AspfsTer9
ENST00000322910.9:c.*1108_*1109del	ENSP00000325395.5:n.*1108_*1109del
ENST00000350303.9:c.1087_1088del	ENSP00000344152.5:p.Arg363AspfsTer9
ENST00000356839.9:c.1153_1154del	ENSP00000349297.5:p.Arg385AspfsTer9
ENST00000542255.6:c.11_12del
ENST00000543245.6:c.1222_1223del	ENSP00000438689.2:p.Arg408AspfsTer9
ENST00000578579.2:n.102_103del
ENST00000578824.5:n.569_570del
ENST00000579425.5:n.177_178del
ENST00000582379.1:n.804_805del
ENST00000583858.5:c.182_183del
ENST00000585203.6:n.361_362del
NM_000018.3:c.1153_1154del	NP_000009.1:p.Arg385AspfsTer9
NM_001033859.2:c.1087_1088del	NP_001029031.1:p.Arg363AspfsTer9
NM_001270447.1:c.1222_1223del	NP_001257376.1:p.Arg408AspfsTer9
NM_001270448.1:c.925_926del	NP_001257377.1:p.Arg309AspfsTer9
XM_006721516.2:c.1153_1154del	XP_006721579.2:p.Arg385AspfsTer9
XM_011523829.1:c.1153_1154del	XP_011522131.1:p.Arg385AspfsTer9
XM_011523830.1:c.1153_1154del	XP_011522132.1:p.Arg385AspfsTer9
XR_934021.1:n.1260_1261del
XR_934022.1:n.1260_1261del
XR_934023.1:n.1260_1261del
XM_006721516.3:c.1153_1154del	XP_006721579.2:p.Arg385AspfsTer9
XM_011523829.2:c.1153_1154del	XP_011522131.1:p.Arg385AspfsTer9
XM_011523830.2:c.1153_1154del	XP_011522132.1:p.Arg385AspfsTer9
XM_024450741.1:c.1153_1154del	XP_024306509.1:p.Arg385AspfsTer9
XR_934021.2:n.1212_1213del
XR_934022.2:n.1212_1213del
XR_934023.2:n.1212_1213del
NM_000018.4:c.1153_1154del MANE Select	NP_000009.1:p.Arg385AspfsTer9
NM_001033859.3:c.1087_1088del	NP_001029031.1:p.Arg363AspfsTer9
NM_001270447.2:c.1222_1223del	NP_001257376.1:p.Arg408AspfsTer9
NM_001270448.2:c.925_926del	NP_001257377.1:p.Arg309AspfsTer9