Canonical Allele Identifier: CA2635786447

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224666-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224668del , CM000679.2:g.7224668del	GRCh38
NC_000017.10:g.7127987del , CM000679.1:g.7127987del	GRCh37
NC_000017.9:g.7068711del	NCBI36
NG_007975.1:g.9835del
NG_008391.2:g.384del
NG_033038.1:g.14878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1705del MANE Select	ENSP00000349297.5:p.Ala569GlnfsTer21
ENST00000322910.9:c.*1660del	ENSP00000325395.5:n.*1660del
ENST00000350303.9:c.1639del	ENSP00000344152.5:p.Ala547GlnfsTer21
ENST00000356839.9:c.1705del	ENSP00000349297.5:p.Ala569GlnfsTer21
ENST00000542255.6:c.537-47del
ENST00000543245.6:c.1774del	ENSP00000438689.2:p.Ala592GlnfsTer21
ENST00000578033.1:n.36del
ENST00000578319.5:n.286del
ENST00000578711.1:n.1164del
ENST00000578809.5:n.277del
ENST00000579425.5:n.821del
ENST00000579546.1:c.440del
ENST00000583074.5:n.300-47del
ENST00000583848.5:c.71del	ENSP00000466487.1:p.Gly24AlafsTer?
ENST00000583850.5:n.476del
ENST00000583858.5:c.636del
ENST00000585203.6:n.896del
NM_000018.3:c.1705del	NP_000009.1:p.Ala569GlnfsTer21
NM_001033859.2:c.1639del	NP_001029031.1:p.Ala547GlnfsTer21
NM_001270447.1:c.1774del	NP_001257376.1:p.Ala592GlnfsTer21
NM_001270448.1:c.1477del	NP_001257377.1:p.Ala493GlnfsTer21
XM_006721516.2:c.1679-47del	XP_006721579.2:n.1679-47del
XM_011523829.1:c.1577-47del	XP_011522131.1:n.1577-47del
XM_011523830.1:c.1603del	XP_011522132.1:p.Ala535GlnfsTer21
XR_934021.1:n.1808del
XR_934022.1:n.1714del
XR_934023.1:n.1688-47del
XM_006721516.3:c.1679-47del	XP_006721579.2:n.1679-47del
XM_011523829.2:c.1577-47del	XP_011522131.1:n.1577-47del
XM_011523830.2:c.1603del	XP_011522132.1:p.Ala535GlnfsTer21
XM_024450741.1:c.1693del	XP_024306509.1:p.Ala565GlnfsTer21
XR_934021.2:n.1760del
XR_934022.2:n.1666del
XR_934023.2:n.1640-47del
NM_000018.4:c.1705del MANE Select	NP_000009.1:p.Ala569GlnfsTer21
NM_001033859.3:c.1639del	NP_001029031.1:p.Ala547GlnfsTer21
NM_001270447.2:c.1774del	NP_001257376.1:p.Ala592GlnfsTer21
NM_001270448.2:c.1477del	NP_001257377.1:p.Ala493GlnfsTer21