Canonical Allele Identifier: CA2635782898

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223817-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223818del , CM000679.2:g.7223818del	GRCh38
NC_000017.10:g.7127137del , CM000679.1:g.7127137del	GRCh37
NC_000017.9:g.7067861del	NCBI36
NG_007975.1:g.8985del
NG_008391.2:g.1233del
NG_033038.1:g.15727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1275del MANE Select	ENSP00000349297.5:p.Ala426ProfsTer4
ENST00000322910.9:c.*1230del	ENSP00000325395.5:n.*1230del
ENST00000350303.9:c.1209del	ENSP00000344152.5:p.Ala404ProfsTer4
ENST00000356839.9:c.1275del	ENSP00000349297.5:p.Ala426ProfsTer4
ENST00000542255.6:c.133del
ENST00000543245.6:c.1344del	ENSP00000438689.2:p.Ala449ProfsTer4
ENST00000578579.2:n.446del
ENST00000578711.1:n.314del
ENST00000578824.5:n.691del
ENST00000579425.5:n.299del
ENST00000579546.1:c.112del
ENST00000583850.5:n.50del
ENST00000583858.5:c.304del
ENST00000585203.6:n.483del
NM_000018.3:c.1275del	NP_000009.1:p.Ala426ProfsTer4
NM_001033859.2:c.1209del	NP_001029031.1:p.Ala404ProfsTer4
NM_001270447.1:c.1344del	NP_001257376.1:p.Ala449ProfsTer4
NM_001270448.1:c.1047del	NP_001257377.1:p.Ala350ProfsTer4
XM_006721516.2:c.1275del	XP_006721579.2:p.Ala426ProfsTer4
XM_011523829.1:c.1275del	XP_011522131.1:p.Ala426ProfsTer4
XM_011523830.1:c.1275del	XP_011522132.1:p.Ala426ProfsTer4
XR_934021.1:n.1382del
XR_934022.1:n.1382del
XR_934023.1:n.1382del
XM_006721516.3:c.1275del	XP_006721579.2:p.Ala426ProfsTer4
XM_011523829.2:c.1275del	XP_011522131.1:p.Ala426ProfsTer4
XM_011523830.2:c.1275del	XP_011522132.1:p.Ala426ProfsTer4
XM_024450741.1:c.1275del	XP_024306509.1:p.Ala426ProfsTer4
XR_934021.2:n.1334del
XR_934022.2:n.1334del
XR_934023.2:n.1334del
NM_000018.4:c.1275del MANE Select	NP_000009.1:p.Ala426ProfsTer4
NM_001033859.3:c.1209del	NP_001029031.1:p.Ala404ProfsTer4
NM_001270447.2:c.1344del	NP_001257376.1:p.Ala449ProfsTer4
NM_001270448.2:c.1047del	NP_001257377.1:p.Ala350ProfsTer4