Canonical Allele Identifier: CA220188

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92269
• ClinVar RCV Id: RCV000077897 ; RCV000316014
• dbSNP Id: rs398123078
• ExAC: 17:7128421 TC / T
• gnomAD v2: 17-7128421-TC-T
• gnomAD v3: 17-7225102-TC-T
• gnomAD v4: 17-7225102-TC-T
• MyVariant Identifiers: chr17:g.7128424del (hg19) ; chr17:g.7128422del (hg19) ; chr17:g.7128424delC (hg19) ; chr17:g.7225105del (hg38) ; chr17:g.7225103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225105del , CM000679.2:g.7225105del	GRCh38
NC_000017.10:g.7128424del , CM000679.1:g.7128424del	GRCh37
NC_000017.9:g.7069148del	NCBI36
NG_007975.1:g.10272del
NG_033038.1:g.14442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*8del MANE Select	ENSP00000349297.5:n.*8del
ENST00000322910.9:c.*1931del	ENSP00000325395.5:n.*1931del
ENST00000350303.9:c.*8del	ENSP00000344152.5:n.*8del
ENST00000356839.9:c.*8del	ENSP00000349297.5:n.*8del
ENST00000542255.6:c.855del
ENST00000543245.6:c.*8del	ENSP00000438689.2:n.*8del
ENST00000578033.1:n.401del
ENST00000578319.5:n.557del
ENST00000578711.1:n.1601del
ENST00000578809.5:n.548del
ENST00000579425.5:n.1092del
ENST00000583848.5:c.342del	ENSP00000466487.1:n.342del
ENST00000583850.5:n.747del
ENST00000583858.5:c.907del
NM_000018.3:c.*8del	NP_000009.1:n.*8del
NM_001033859.2:c.*8del	NP_001029031.1:n.*8del
NM_001270447.1:c.*8del	NP_001257376.1:n.*8del
NM_001270448.1:c.*8del	NP_001257377.1:n.*8del
XM_006721516.2:c.*8del	XP_006721579.2:n.*8del
XM_011523829.1:c.*8del	XP_011522131.1:n.*8del
XM_011523830.1:c.*8del	XP_011522132.1:n.*8del
XR_934021.1:n.2079del
XR_934022.1:n.1985del
XR_934023.1:n.2006del
XM_006721516.3:c.*8del	XP_006721579.2:n.*8del
XM_011523829.2:c.*8del	XP_011522131.1:n.*8del
XM_011523830.2:c.*8del	XP_011522132.1:n.*8del
XM_024450741.1:c.*8del	XP_024306509.1:n.*8del
XR_934021.2:n.2031del
XR_934022.2:n.1937del
XR_934023.2:n.1958del
NM_000018.4:c.*8del MANE Select	NP_000009.1:n.*8del
NM_001033859.3:c.*8del	NP_001029031.1:n.*8del
NM_001270447.2:c.*8del	NP_001257376.1:n.*8del
NM_001270448.2:c.*8del	NP_001257377.1:n.*8del