Canonical Allele Identifier: CA16041864

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 371385
• ClinVar RCV Id: RCV000410931 ; RCV001841276
• dbSNP Id: rs1057516843
• gnomAD v3: 17-7222782-GT-G
• gnomAD v4: 17-7222782-GT-G
• MyVariant Identifiers: chr17:g.7126103del (hg19) ; chr17:g.7222784del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222784del , CM000679.2:g.7222784del	GRCh38
NC_000017.10:g.7126103del , CM000679.1:g.7126103del	GRCh37
NC_000017.9:g.7066827del	NCBI36
NG_007975.1:g.7951del
NG_008391.2:g.2268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.996del MANE Select	ENSP00000349297.5:p.Ala333ProfsTer20
ENST00000322910.9:c.*951del	ENSP00000325395.5:n.*951del
ENST00000350303.9:c.930del	ENSP00000344152.5:p.Ala311ProfsTer20
ENST00000356839.9:c.996del	ENSP00000349297.5:p.Ala333ProfsTer20
ENST00000543245.6:c.1065del	ENSP00000438689.2:p.Ala356ProfsTer20
ENST00000578824.5:n.145del
ENST00000581378.5:c.714del
ENST00000582379.1:n.380del
ENST00000583858.5:c.25del
NM_000018.3:c.996del	NP_000009.1:p.Ala333ProfsTer20
NM_001033859.2:c.930del	NP_001029031.1:p.Ala311ProfsTer20
NM_001270447.1:c.1065del	NP_001257376.1:p.Ala356ProfsTer20
NM_001270448.1:c.768del	NP_001257377.1:p.Ala257ProfsTer20
XM_006721516.2:c.996del	XP_006721579.2:p.Ala333ProfsTer20
XM_011523829.1:c.996del	XP_011522131.1:p.Ala333ProfsTer20
XM_011523830.1:c.996del	XP_011522132.1:p.Ala333ProfsTer20
XR_934021.1:n.1103del
XR_934022.1:n.1103del
XR_934023.1:n.1103del
XM_006721516.3:c.996del	XP_006721579.2:p.Ala333ProfsTer20
XM_011523829.2:c.996del	XP_011522131.1:p.Ala333ProfsTer20
XM_011523830.2:c.996del	XP_011522132.1:p.Ala333ProfsTer20
XM_024450741.1:c.996del	XP_024306509.1:p.Ala333ProfsTer20
XR_934021.2:n.1055del
XR_934022.2:n.1055del
XR_934023.2:n.1055del
NM_000018.4:c.996del MANE Select	NP_000009.1:p.Ala333ProfsTer20
NM_001033859.3:c.930del	NP_001029031.1:p.Ala311ProfsTer20
NM_001270447.2:c.1065del	NP_001257376.1:p.Ala356ProfsTer20
NM_001270448.2:c.768del	NP_001257377.1:p.Ala257ProfsTer20