Canonical Allele Identifier: CA2245715443

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224772_7224774delinsCGG , CM000679.2:g.7224772_7224774delinsCGG	GRCh38
NC_000017.10:g.7128091_7128093delinsCGG , CM000679.1:g.7128091_7128093delinsCGG	GRCh37
NC_000017.9:g.7068815_7068817delinsCGG	NCBI36
NG_007975.1:g.9939_9941delinsCGG
NG_008391.2:g.277_279delinsCCG
NG_033038.1:g.14771_14773delinsCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1752-37_1752-35delinsCGG MANE Select	ENSP00000349297.5:n.1752-37_1752-35delinsCGG
ENST00000322910.9:c.*1707-37_*1707-35delinsCGG	ENSP00000325395.5:n.*1707-37_*1707-35delinsCGG
ENST00000350303.9:c.1686-37_1686-35delinsCGG	ENSP00000344152.5:n.1686-37_1686-35delinsCGG
ENST00000356839.9:c.1752-37_1752-35delinsCGG	ENSP00000349297.5:n.1752-37_1752-35delinsCGG
ENST00000542255.6:c.594_596delinsCGG
ENST00000543245.6:c.1821-37_1821-35delinsCGG	ENSP00000438689.2:n.1821-37_1821-35delinsCGG
ENST00000578033.1:n.140_142delinsCGG
ENST00000578319.5:n.333-37_333-35delinsCGG
ENST00000578711.1:n.1268_1270delinsCGG
ENST00000578809.5:n.324-37_324-35delinsCGG
ENST00000579425.5:n.868-37_868-35delinsCGG
ENST00000579546.1:c.487-37_487-35delinsCGG
ENST00000583074.5:n.357_359delinsCGG
ENST00000583848.5:c.118-37_118-35delinsCGG	ENSP00000466487.1:n.118-37_118-35delinsCGG
ENST00000583850.5:n.523-37_523-35delinsCGG
ENST00000583858.5:c.683-37_683-35delinsCGG
ENST00000585203.6:n.943-37_943-35delinsCGG
NM_000018.3:c.1752-37_1752-35delinsCGG	NP_000009.1:n.1752-37_1752-35delinsCGG
NM_001033859.2:c.1686-37_1686-35delinsCGG	NP_001029031.1:n.1686-37_1686-35delinsCGG
NM_001270447.1:c.1821-37_1821-35delinsCGG	NP_001257376.1:n.1821-37_1821-35delinsCGG
NM_001270448.1:c.1524-37_1524-35delinsCGG	NP_001257377.1:n.1524-37_1524-35delinsCGG
XM_006721516.2:c.1736_1738delinsCGG	XP_006721579.2:p.Pro579=
XM_011523829.1:c.1634_1636delinsCGG	XP_011522131.1:p.Pro545=
XM_011523830.1:c.1650-37_1650-35delinsCGG	XP_011522132.1:n.1650-37_1650-35delinsCGG
XR_934021.1:n.1855-37_1855-35delinsCGG
XR_934022.1:n.1761-37_1761-35delinsCGG
XR_934023.1:n.1745_1747delinsCGG
XM_006721516.3:c.1736_1738delinsCGG	XP_006721579.2:p.Pro579=
XM_011523829.2:c.1634_1636delinsCGG	XP_011522131.1:p.Pro545=
XM_011523830.2:c.1650-37_1650-35delinsCGG	XP_011522132.1:n.1650-37_1650-35delinsCGG
XM_024450741.1:c.1740-37_1740-35delinsCGG	XP_024306509.1:n.1740-37_1740-35delinsCGG
XR_934021.2:n.1807-37_1807-35delinsCGG
XR_934022.2:n.1713-37_1713-35delinsCGG
XR_934023.2:n.1697_1699delinsCGG
NM_000018.4:c.1752-37_1752-35delinsCGG MANE Select	NP_000009.1:n.1752-37_1752-35delinsCGG
NM_001033859.3:c.1686-37_1686-35delinsCGG	NP_001029031.1:n.1686-37_1686-35delinsCGG
NM_001270447.2:c.1821-37_1821-35delinsCGG	NP_001257376.1:n.1821-37_1821-35delinsCGG
NM_001270448.2:c.1524-37_1524-35delinsCGG	NP_001257377.1:n.1524-37_1524-35delinsCGG