Canonical Allele Identifier: CA2635780174

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220724-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220725del , CM000679.2:g.7220725del	GRCh38
NC_000017.10:g.7124044del , CM000679.1:g.7124044del	GRCh37
NC_000017.9:g.7064768del	NCBI36
NG_007975.1:g.5892del
NG_008391.2:g.4326del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.278-41del MANE Select	ENSP00000349297.5:n.278-41del
ENST00000322910.9:c.*233-41del	ENSP00000325395.5:n.*233-41del
ENST00000350303.9:c.212-41del	ENSP00000344152.5:n.212-41del
ENST00000356839.9:c.278-41del	ENSP00000349297.5:n.278-41del
ENST00000543245.6:c.347-41del	ENSP00000438689.2:n.347-41del
ENST00000577191.5:n.355-41del
ENST00000577433.5:n.486-41del
ENST00000577857.5:n.229-41del
ENST00000578421.1:n.534del
ENST00000579286.5:n.459-41del
ENST00000579886.2:c.201+199del	ENSP00000463246.1:n.201+199del
ENST00000580263.5:n.490del
ENST00000581562.5:n.325-41del
ENST00000582056.5:n.368-41del
ENST00000582166.1:n.166-41del
ENST00000582356.5:n.477-41del
ENST00000583312.5:c.278-41del	ENSP00000467920.1:n.278-41del
ENST00000584103.5:c.278-41del	ENSP00000465353.1:n.278-41del
NM_000018.3:c.278-41del	NP_000009.1:n.278-41del
NM_001033859.2:c.212-41del	NP_001029031.1:n.212-41del
NM_001270447.1:c.347-41del	NP_001257376.1:n.347-41del
NM_001270448.1:c.50-41del	NP_001257377.1:n.50-41del
XM_006721516.2:c.278-41del	XP_006721579.2:n.278-41del
XM_011523829.1:c.278-41del	XP_011522131.1:n.278-41del
XM_011523830.1:c.278-41del	XP_011522132.1:n.278-41del
XR_934021.1:n.385-41del
XR_934022.1:n.385-41del
XR_934023.1:n.385-41del
XM_006721516.3:c.278-41del	XP_006721579.2:n.278-41del
XM_011523829.2:c.278-41del	XP_011522131.1:n.278-41del
XM_011523830.2:c.278-41del	XP_011522132.1:n.278-41del
XM_024450741.1:c.278-41del	XP_024306509.1:n.278-41del
XR_934021.2:n.337-41del
XR_934022.2:n.337-41del
XR_934023.2:n.337-41del
NM_000018.4:c.278-41del MANE Select	NP_000009.1:n.278-41del
NM_001033859.3:c.212-41del	NP_001029031.1:n.212-41del
NM_001270447.2:c.347-41del	NP_001257376.1:n.347-41del
NM_001270448.2:c.50-41del	NP_001257377.1:n.50-41del