Canonical Allele Identifier: CA2635786598

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224725-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224727dup , CM000679.2:g.7224727dup	GRCh38
NC_000017.10:g.7128046dup , CM000679.1:g.7128046dup	GRCh37
NC_000017.9:g.7068770dup	NCBI36
NG_007975.1:g.9894dup
NG_008391.2:g.325dup
NG_033038.1:g.14819dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+13dup MANE Select	ENSP00000349297.5:n.1751+13dup
ENST00000322910.9:c.*1706+13dup	ENSP00000325395.5:n.*1706+13dup
ENST00000350303.9:c.1685+13dup	ENSP00000344152.5:n.1685+13dup
ENST00000356839.9:c.1751+13dup	ENSP00000349297.5:n.1751+13dup
ENST00000542255.6:c.549dup
ENST00000543245.6:c.1820+13dup	ENSP00000438689.2:n.1820+13dup
ENST00000578033.1:n.95dup
ENST00000578319.5:n.332+13dup
ENST00000578711.1:n.1223dup
ENST00000578809.5:n.323+13dup
ENST00000579425.5:n.867+13dup
ENST00000579546.1:c.486+13dup
ENST00000583074.5:n.312dup
ENST00000583848.5:c.117+13dup	ENSP00000466487.1:n.117+13dup
ENST00000583850.5:n.522+13dup
ENST00000583858.5:c.682+13dup
ENST00000585203.6:n.942+13dup
NM_000018.3:c.1751+13dup	NP_000009.1:n.1751+13dup
NM_001033859.2:c.1685+13dup	NP_001029031.1:n.1685+13dup
NM_001270447.1:c.1820+13dup	NP_001257376.1:n.1820+13dup
NM_001270448.1:c.1523+13dup	NP_001257377.1:n.1523+13dup
XM_006721516.2:c.1691dup	XP_006721579.2:p.Arg565GlnfsTer?
XM_011523829.1:c.1589dup	XP_011522131.1:p.Arg531GlnfsTer?
XM_011523830.1:c.1649+13dup	XP_011522132.1:n.1649+13dup
XR_934021.1:n.1854+13dup
XR_934022.1:n.1760+13dup
XR_934023.1:n.1700dup
XM_006721516.3:c.1691dup	XP_006721579.2:p.Arg565GlnfsTer?
XM_011523829.2:c.1589dup	XP_011522131.1:p.Arg531GlnfsTer?
XM_011523830.2:c.1649+13dup	XP_011522132.1:n.1649+13dup
XM_024450741.1:c.1739+13dup	XP_024306509.1:n.1739+13dup
XR_934021.2:n.1806+13dup
XR_934022.2:n.1712+13dup
XR_934023.2:n.1652dup
NM_000018.4:c.1751+13dup MANE Select	NP_000009.1:n.1751+13dup
NM_001033859.3:c.1685+13dup	NP_001029031.1:n.1685+13dup
NM_001270447.2:c.1820+13dup	NP_001257376.1:n.1820+13dup
NM_001270448.2:c.1523+13dup	NP_001257377.1:n.1523+13dup