Canonical Allele Identifier: CA624860741

Gene: ACADVL

Linked Data

• dbSNP Id: rs1567570161
• gnomAD v2: 17-7128412-TC-T
• gnomAD v4: 17-7225093-TC-T
• MyVariant Identifiers: chr17:g.7128413del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225094del , CM000679.2:g.7225094del	GRCh38
NC_000017.10:g.7128413del , CM000679.1:g.7128413del	GRCh37
NC_000017.9:g.7069137del	NCBI36
NG_007975.1:g.10261del
NG_033038.1:g.14451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1965del MANE Select	ENSP00000349297.5:p.Ter656GluextTer24
ENST00000322910.9:c.*1920del	ENSP00000325395.5:n.*1920del
ENST00000350303.9:c.1899del	ENSP00000344152.5:p.Ter634GluextTer24
ENST00000356839.9:c.1965del	ENSP00000349297.5:p.Ter656GluextTer24
ENST00000542255.6:c.844del
ENST00000543245.6:c.2034del	ENSP00000438689.2:p.Ter679GluextTer24
ENST00000578033.1:n.390del
ENST00000578319.5:n.546del
ENST00000578711.1:n.1590del
ENST00000578809.5:n.537del
ENST00000579425.5:n.1081del
ENST00000583848.5:c.331del	ENSP00000466487.1:n.331del
ENST00000583850.5:n.736del
ENST00000583858.5:c.896del
NM_000018.3:c.1965del	NP_000009.1:p.Ter656GluextTer24
NM_001033859.2:c.1899del	NP_001029031.1:p.Ter634GluextTer24
NM_001270447.1:c.2034del	NP_001257376.1:p.Ter679GluextTer24
NM_001270448.1:c.1737del	NP_001257377.1:p.Ter580GluextTer24
XM_006721516.2:c.1986del	XP_006721579.2:p.Ter663GluextTer24
XM_011523829.1:c.1884del	XP_011522131.1:p.Ter629GluextTer24
XM_011523830.1:c.1863del	XP_011522132.1:p.Ter622GluextTer24
XR_934021.1:n.2068del
XR_934022.1:n.1974del
XR_934023.1:n.1995del
XM_006721516.3:c.1986del	XP_006721579.2:p.Ter663GluextTer24
XM_011523829.2:c.1884del	XP_011522131.1:p.Ter629GluextTer24
XM_011523830.2:c.1863del	XP_011522132.1:p.Ter622GluextTer24
XM_024450741.1:c.1953del	XP_024306509.1:p.Ter652GluextTer24
XR_934021.2:n.2020del
XR_934022.2:n.1926del
XR_934023.2:n.1947del
NM_000018.4:c.1965del MANE Select	NP_000009.1:p.Ter656GluextTer24
NM_001033859.3:c.1899del	NP_001029031.1:p.Ter634GluextTer24
NM_001270447.2:c.2034del	NP_001257376.1:p.Ter679GluextTer24
NM_001270448.2:c.1737del	NP_001257377.1:p.Ter580GluextTer24