Canonical Allele Identifier: CA2635786669

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224750-G-GGGCCTGGGCCTGGATCCCAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224755_7224776dup , CM000679.2:g.7224755_7224776dup	GRCh38
NC_000017.10:g.7128074_7128095dup , CM000679.1:g.7128074_7128095dup	GRCh37
NC_000017.9:g.7068798_7068819dup	NCBI36
NG_007975.1:g.9922_9943dup
NG_008391.2:g.279_300dup
NG_033038.1:g.14773_14794dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+41_1752-33dup MANE Select	ENSP00000349297.5:n.1751+41_1752-33dup
ENST00000322910.9:c.*1706+41_*1707-33dup	ENSP00000325395.5:n.*1706+41_*1707-33dup
ENST00000350303.9:c.1685+41_1686-33dup	ENSP00000344152.5:n.1685+41_1686-33dup
ENST00000356839.9:c.1751+41_1752-33dup	ENSP00000349297.5:n.1751+41_1752-33dup
ENST00000542255.6:c.577_598dup
ENST00000543245.6:c.1820+41_1821-33dup	ENSP00000438689.2:n.1820+41_1821-33dup
ENST00000578033.1:n.123_144dup
ENST00000578319.5:n.332+41_333-33dup
ENST00000578711.1:n.1251_1272dup
ENST00000578809.5:n.323+41_324-33dup
ENST00000579425.5:n.867+41_868-33dup
ENST00000579546.1:c.486+41_487-33dup
ENST00000583074.5:n.340_361dup
ENST00000583848.5:c.117+41_118-33dup	ENSP00000466487.1:n.117+41_118-33dup
ENST00000583850.5:n.522+41_523-33dup
ENST00000583858.5:c.682+41_683-33dup
ENST00000585203.6:n.942+41_943-33dup
NM_000018.3:c.1751+41_1752-33dup	NP_000009.1:n.1751+41_1752-33dup
NM_001033859.2:c.1685+41_1686-33dup	NP_001029031.1:n.1685+41_1686-33dup
NM_001270447.1:c.1820+41_1821-33dup	NP_001257376.1:n.1820+41_1821-33dup
NM_001270448.1:c.1523+41_1524-33dup	NP_001257377.1:n.1523+41_1524-33dup
XM_006721516.2:c.1719_1740dup	XP_006721579.2:p.Gln581TrpfsTer25
XM_011523829.1:c.1617_1638dup	XP_011522131.1:p.Gln547TrpfsTer25
XM_011523830.1:c.1649+41_1650-33dup	XP_011522132.1:n.1649+41_1650-33dup
XR_934021.1:n.1854+41_1855-33dup
XR_934022.1:n.1760+41_1761-33dup
XR_934023.1:n.1728_1749dup
XM_006721516.3:c.1719_1740dup	XP_006721579.2:p.Gln581TrpfsTer25
XM_011523829.2:c.1617_1638dup	XP_011522131.1:p.Gln547TrpfsTer25
XM_011523830.2:c.1649+41_1650-33dup	XP_011522132.1:n.1649+41_1650-33dup
XM_024450741.1:c.1739+41_1740-33dup	XP_024306509.1:n.1739+41_1740-33dup
XR_934021.2:n.1806+41_1807-33dup
XR_934022.2:n.1712+41_1713-33dup
XR_934023.2:n.1680_1701dup
NM_000018.4:c.1751+41_1752-33dup MANE Select	NP_000009.1:n.1751+41_1752-33dup
NM_001033859.3:c.1685+41_1686-33dup	NP_001029031.1:n.1685+41_1686-33dup
NM_001270447.2:c.1820+41_1821-33dup	NP_001257376.1:n.1820+41_1821-33dup
NM_001270448.2:c.1523+41_1524-33dup	NP_001257377.1:n.1523+41_1524-33dup