Canonical Allele Identifier: CA2245715763

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224863_7224864delinsCT , CM000679.2:g.7224863_7224864delinsCT	GRCh38
NC_000017.10:g.7128182_7128183delinsCT , CM000679.1:g.7128182_7128183delinsCT	GRCh37
NC_000017.9:g.7068906_7068907delinsCT	NCBI36
NG_007975.1:g.10030_10031delinsCT
NG_008391.2:g.187_188delinsAG
NG_033038.1:g.14681_14682delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1806_1807delinsCT MANE Select	ENSP00000349297.5:p.Leu602=
ENST00000322910.9:c.*1761_*1762delinsCT	ENSP00000325395.5:n.*1761_*1762delinsCT
ENST00000350303.9:c.1740_1741delinsCT	ENSP00000344152.5:p.Leu580=
ENST00000356839.9:c.1806_1807delinsCT	ENSP00000349297.5:p.Leu602=
ENST00000542255.6:c.685_686delinsCT
ENST00000543245.6:c.1875_1876delinsCT	ENSP00000438689.2:p.Leu625=
ENST00000578033.1:n.231_232delinsCT
ENST00000578319.5:n.387_388delinsCT
ENST00000578711.1:n.1359_1360delinsCT
ENST00000578809.5:n.378_379delinsCT
ENST00000579425.5:n.922_923delinsCT
ENST00000579546.1:c.541_542delinsCT
ENST00000583848.5:c.172_173delinsCT	ENSP00000466487.1:n.172_173delinsCT
ENST00000583850.5:n.577_578delinsCT
ENST00000583858.5:c.737_738delinsCT
NM_000018.3:c.1806_1807delinsCT	NP_000009.1:p.Leu602=
NM_001033859.2:c.1740_1741delinsCT	NP_001029031.1:p.Leu580=
NM_001270447.1:c.1875_1876delinsCT	NP_001257376.1:p.Leu625=
NM_001270448.1:c.1578_1579delinsCT	NP_001257377.1:p.Leu526=
XM_006721516.2:c.1827_1828delinsCT	XP_006721579.2:p.Leu609=
XM_011523829.1:c.1725_1726delinsCT	XP_011522131.1:p.Leu575=
XM_011523830.1:c.1704_1705delinsCT	XP_011522132.1:p.Leu568=
XR_934021.1:n.1909_1910delinsCT
XR_934022.1:n.1815_1816delinsCT
XR_934023.1:n.1836_1837delinsCT
XM_006721516.3:c.1827_1828delinsCT	XP_006721579.2:p.Leu609=
XM_011523829.2:c.1725_1726delinsCT	XP_011522131.1:p.Leu575=
XM_011523830.2:c.1704_1705delinsCT	XP_011522132.1:p.Leu568=
XM_024450741.1:c.1794_1795delinsCT	XP_024306509.1:p.Leu598=
XR_934021.2:n.1861_1862delinsCT
XR_934022.2:n.1767_1768delinsCT
XR_934023.2:n.1788_1789delinsCT
NM_000018.4:c.1806_1807delinsCT MANE Select	NP_000009.1:p.Leu602=
NM_001033859.3:c.1740_1741delinsCT	NP_001029031.1:p.Leu580=
NM_001270447.2:c.1875_1876delinsCT	NP_001257376.1:p.Leu625=
NM_001270448.2:c.1578_1579delinsCT	NP_001257377.1:p.Leu526=