Canonical Allele Identifier: CA2635786530

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224694-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224695_7224697del , CM000679.2:g.7224695_7224697del	GRCh38
NC_000017.10:g.7128014_7128016del , CM000679.1:g.7128014_7128016del	GRCh37
NC_000017.9:g.7068738_7068740del	NCBI36
NG_007975.1:g.9862_9864del
NG_008391.2:g.354_356del
NG_033038.1:g.14848_14850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1732_1734del MANE Select	ENSP00000349297.5:p.Met578del
ENST00000322910.9:c.*1687_*1689del	ENSP00000325395.5:n.*1687_*1689del
ENST00000350303.9:c.1666_1668del	ENSP00000344152.5:p.Met556del
ENST00000356839.9:c.1732_1734del	ENSP00000349297.5:p.Met578del
ENST00000542255.6:c.537-20_537-18del
ENST00000543245.6:c.1801_1803del	ENSP00000438689.2:p.Met601del
ENST00000578033.1:n.63_65del
ENST00000578319.5:n.313_315del
ENST00000578711.1:n.1191_1193del
ENST00000578809.5:n.304_306del
ENST00000579425.5:n.848_850del
ENST00000579546.1:c.467_469del
ENST00000583074.5:n.300-20_300-18del
ENST00000583848.5:c.98_100del	ENSP00000466487.1:p.His33_Gly34delinsArg
ENST00000583850.5:n.503_505del
ENST00000583858.5:c.663_665del
ENST00000585203.6:n.923_925del
NM_000018.3:c.1732_1734del	NP_000009.1:p.Met578del
NM_001033859.2:c.1666_1668del	NP_001029031.1:p.Met556del
NM_001270447.1:c.1801_1803del	NP_001257376.1:p.Met601del
NM_001270448.1:c.1504_1506del	NP_001257377.1:p.Met502del
XM_006721516.2:c.1679-20_1679-18del	XP_006721579.2:n.1679-20_1679-18del
XM_011523829.1:c.1577-20_1577-18del	XP_011522131.1:n.1577-20_1577-18del
XM_011523830.1:c.1630_1632del	XP_011522132.1:p.Met544del
XR_934021.1:n.1835_1837del
XR_934022.1:n.1741_1743del
XR_934023.1:n.1688-20_1688-18del
XM_006721516.3:c.1679-20_1679-18del	XP_006721579.2:n.1679-20_1679-18del
XM_011523829.2:c.1577-20_1577-18del	XP_011522131.1:n.1577-20_1577-18del
XM_011523830.2:c.1630_1632del	XP_011522132.1:p.Met544del
XM_024450741.1:c.1720_1722del	XP_024306509.1:p.Met574del
XR_934021.2:n.1787_1789del
XR_934022.2:n.1693_1695del
XR_934023.2:n.1640-20_1640-18del
NM_000018.4:c.1732_1734del MANE Select	NP_000009.1:p.Met578del
NM_001033859.3:c.1666_1668del	NP_001029031.1:p.Met556del
NM_001270447.2:c.1801_1803del	NP_001257376.1:p.Met601del
NM_001270448.2:c.1504_1506del	NP_001257377.1:p.Met502del