Canonical Allele Identifier: CA2245714585

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224536_7224539delinsCAAG , CM000679.2:g.7224536_7224539delinsCAAG	GRCh38
NC_000017.10:g.7127855_7127858delinsCAAG , CM000679.1:g.7127855_7127858delinsCAAG	GRCh37
NC_000017.9:g.7068579_7068582delinsCAAG	NCBI36
NG_007975.1:g.9703_9706delinsCAAG
NG_008391.2:g.512_515delinsCTTG
NG_033038.1:g.15006_15009delinsCTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1662_1665delinsCAAG MANE Select	ENSP00000349297.5:p.His554=
ENST00000322910.9:c.*1617_*1620delinsCAAG	ENSP00000325395.5:n.*1617_*1620delinsCAAG...
ENST00000350303.9:c.1596_1599delinsCAAG	ENSP00000344152.5:p.His532=
ENST00000356839.9:c.1662_1665delinsCAAG	ENSP00000349297.5:p.His554=
ENST00000542255.6:c.520_523delinsCAAG
ENST00000543245.6:c.1731_1734delinsCAAG	ENSP00000438689.2:p.His577=
ENST00000578319.5:n.243_246delinsCAAG
ENST00000578711.1:n.1032_1035delinsCAAG
ENST00000578809.5:n.234_237delinsCAAG
ENST00000579391.1:n.266_269delinsCAAG
ENST00000579425.5:n.778_781delinsCAAG
ENST00000579546.1:c.397_400delinsCAAG
ENST00000582450.1:n.170_173delinsCAAG
ENST00000583074.5:n.283_286delinsCAAG
ENST00000583848.5:c.48_51delinsCAAG	ENSP00000466487.1:p.His16=
ENST00000583850.5:n.433_436delinsCAAG
ENST00000583858.5:c.593_596delinsCAAG
ENST00000585203.6:n.853_856delinsCAAG
NM_000018.3:c.1662_1665delinsCAAG	NP_000009.1:p.His554=
NM_001033859.2:c.1596_1599delinsCAAG	NP_001029031.1:p.His532=
NM_001270447.1:c.1731_1734delinsCAAG	NP_001257376.1:p.His577=
NM_001270448.1:c.1434_1437delinsCAAG	NP_001257377.1:p.His478=
XM_006721516.2:c.1662_1665delinsCAAG	XP_006721579.2:p.His554=
XM_011523829.1:c.1560_1563delinsCAAG	XP_011522131.1:p.His520=
XM_011523830.1:c.1560_1563delinsCAAG	XP_011522132.1:p.His520=
XR_934021.1:n.1765_1768delinsCAAG
XR_934022.1:n.1671_1674delinsCAAG
XR_934023.1:n.1671_1674delinsCAAG
XM_006721516.3:c.1662_1665delinsCAAG	XP_006721579.2:p.His554=
XM_011523829.2:c.1560_1563delinsCAAG	XP_011522131.1:p.His520=
XM_011523830.2:c.1560_1563delinsCAAG	XP_011522132.1:p.His520=
XM_024450741.1:c.1650_1653delinsCAAG	XP_024306509.1:p.His550=
XR_934021.2:n.1717_1720delinsCAAG
XR_934022.2:n.1623_1626delinsCAAG
XR_934023.2:n.1623_1626delinsCAAG
NM_000018.4:c.1662_1665delinsCAAG MANE Select	NP_000009.1:p.His554=
NM_001033859.3:c.1596_1599delinsCAAG	NP_001029031.1:p.His532=
NM_001270447.2:c.1731_1734delinsCAAG	NP_001257376.1:p.His577=
NM_001270448.2:c.1434_1437delinsCAAG	NP_001257377.1:p.His478=