Canonical Allele Identifier: CA2808367467

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224538_7224539insT , CM000679.2:g.7224538_7224539insT	GRCh38
NC_000017.10:g.7127857_7127858insT , CM000679.1:g.7127857_7127858insT	GRCh37
NC_000017.9:g.7068581_7068582insT	NCBI36
NG_007975.1:g.9705_9706insT
NG_008391.2:g.512_513insA
NG_033038.1:g.15006_15007insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1664_1665insT MANE Select	ENSP00000349297.5:p.Lys555AsnfsTer7
ENST00000322910.9:c.*1619_*1620insT	ENSP00000325395.5:n.*1619_*1620insT
ENST00000350303.9:c.1598_1599insT	ENSP00000344152.5:p.Lys533AsnfsTer7
ENST00000356839.9:c.1664_1665insT	ENSP00000349297.5:p.Lys555AsnfsTer7
ENST00000542255.6:c.522_523insT
ENST00000543245.6:c.1733_1734insT	ENSP00000438689.2:p.Lys578AsnfsTer7
ENST00000578319.5:n.245_246insT
ENST00000578711.1:n.1034_1035insT
ENST00000578809.5:n.236_237insT
ENST00000579391.1:n.268_269insT
ENST00000579425.5:n.780_781insT
ENST00000579546.1:c.399_400insT
ENST00000582450.1:n.172_173insT
ENST00000583074.5:n.285_286insT
ENST00000583848.5:c.50_51insT	ENSP00000466487.1:p.Lys17AsnfsTer29
ENST00000583850.5:n.435_436insT
ENST00000583858.5:c.595_596insT
ENST00000585203.6:n.855_856insT
NM_000018.3:c.1664_1665insT	NP_000009.1:p.Lys555AsnfsTer7
NM_001033859.2:c.1598_1599insT	NP_001029031.1:p.Lys533AsnfsTer7
NM_001270447.1:c.1733_1734insT	NP_001257376.1:p.Lys578AsnfsTer7
NM_001270448.1:c.1436_1437insT	NP_001257377.1:p.Lys479AsnfsTer7
XM_006721516.2:c.1664_1665insT	XP_006721579.2:p.Lys555AsnfsTer7
XM_011523829.1:c.1562_1563insT	XP_011522131.1:p.Lys521AsnfsTer7
XM_011523830.1:c.1562_1563insT	XP_011522132.1:p.Lys521AsnfsTer7
XR_934021.1:n.1767_1768insT
XR_934022.1:n.1673_1674insT
XR_934023.1:n.1673_1674insT
XM_006721516.3:c.1664_1665insT	XP_006721579.2:p.Lys555AsnfsTer7
XM_011523829.2:c.1562_1563insT	XP_011522131.1:p.Lys521AsnfsTer7
XM_011523830.2:c.1562_1563insT	XP_011522132.1:p.Lys521AsnfsTer7
XM_024450741.1:c.1652_1653insT	XP_024306509.1:p.Lys551AsnfsTer7
XR_934021.2:n.1719_1720insT
XR_934022.2:n.1625_1626insT
XR_934023.2:n.1625_1626insT
NM_000018.4:c.1664_1665insT MANE Select	NP_000009.1:p.Lys555AsnfsTer7
NM_001033859.3:c.1598_1599insT	NP_001029031.1:p.Lys533AsnfsTer7
NM_001270447.2:c.1733_1734insT	NP_001257376.1:p.Lys578AsnfsTer7
NM_001270448.2:c.1436_1437insT	NP_001257377.1:p.Lys479AsnfsTer7