Canonical Allele Identifier: CA2635782969

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7222670-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222675del , CM000679.2:g.7222675del	GRCh38
NC_000017.10:g.7125994del , CM000679.1:g.7125994del	GRCh37
NC_000017.9:g.7066718del	NCBI36
NG_007975.1:g.7842del
NG_008391.2:g.2380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.887del MANE Select	ENSP00000349297.5:p.Pro296LeufsTer?
ENST00000322910.9:c.*842del	ENSP00000325395.5:n.*842del
ENST00000350303.9:c.821del	ENSP00000344152.5:p.Pro274LeufsTer?
ENST00000356839.9:c.887del	ENSP00000349297.5:p.Pro296LeufsTer?
ENST00000543245.6:c.956del	ENSP00000438689.2:p.Pro319LeufsTer?
ENST00000578824.5:n.36del
ENST00000581378.5:c.605del
ENST00000582379.1:n.271del
NM_000018.3:c.887del	NP_000009.1:p.Pro296LeufsTer?
NM_001033859.2:c.821del	NP_001029031.1:p.Pro274LeufsTer?
NM_001270447.1:c.956del	NP_001257376.1:p.Pro319LeufsTer?
NM_001270448.1:c.659del	NP_001257377.1:p.Pro220LeufsTer?
XM_006721516.2:c.887del	XP_006721579.2:p.Pro296LeufsTer?
XM_011523829.1:c.887del	XP_011522131.1:p.Pro296LeufsTer?
XM_011523830.1:c.887del	XP_011522132.1:p.Pro296LeufsTer?
XR_934021.1:n.994del
XR_934022.1:n.994del
XR_934023.1:n.994del
XM_006721516.3:c.887del	XP_006721579.2:p.Pro296LeufsTer?
XM_011523829.2:c.887del	XP_011522131.1:p.Pro296LeufsTer?
XM_011523830.2:c.887del	XP_011522132.1:p.Pro296LeufsTer?
XM_024450741.1:c.887del	XP_024306509.1:p.Pro296LeufsTer?
XR_934021.2:n.946del
XR_934022.2:n.946del
XR_934023.2:n.946del
NM_000018.4:c.887del MANE Select	NP_000009.1:p.Pro296LeufsTer?
NM_001033859.3:c.821del	NP_001029031.1:p.Pro274LeufsTer?
NM_001270447.2:c.956del	NP_001257376.1:p.Pro319LeufsTer?
NM_001270448.2:c.659del	NP_001257377.1:p.Pro220LeufsTer?