Canonical Allele Identifier: CA2963293044

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224539_7224546del , CM000679.2:g.7224539_7224546del	GRCh38
NC_000017.10:g.7127858_7127865del , CM000679.1:g.7127858_7127865del	GRCh37
NC_000017.9:g.7068582_7068589del	NCBI36
NG_007975.1:g.9706_9713del
NG_008391.2:g.506_513del
NG_033038.1:g.15000_15007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1665_1672del MANE Select	ENSP00000349297.5:p.Lys555AsnfsTer4
ENST00000322910.9:c.*1620_*1627del	ENSP00000325395.5:n.*1620_*1627del
ENST00000350303.9:c.1599_1606del	ENSP00000344152.5:p.Lys533AsnfsTer4
ENST00000356839.9:c.1665_1672del	ENSP00000349297.5:p.Lys555AsnfsTer4
ENST00000542255.6:c.523_530del
ENST00000543245.6:c.1734_1741del	ENSP00000438689.2:p.Lys578AsnfsTer4
ENST00000578319.5:n.246_253del
ENST00000578711.1:n.1035_1042del
ENST00000578809.5:n.237_244del
ENST00000579391.1:n.269_276del
ENST00000579425.5:n.781_788del
ENST00000579546.1:c.400_407del
ENST00000582450.1:n.173_180del
ENST00000583074.5:n.286_293del
ENST00000583848.5:c.51_58del	ENSP00000466487.1:p.Lys17AsnfsTer26
ENST00000583850.5:n.436_443del
ENST00000583858.5:c.596_603del
ENST00000585203.6:n.856_863del
NM_000018.3:c.1665_1672del	NP_000009.1:p.Lys555AsnfsTer4
NM_001033859.2:c.1599_1606del	NP_001029031.1:p.Lys533AsnfsTer4
NM_001270447.1:c.1734_1741del	NP_001257376.1:p.Lys578AsnfsTer4
NM_001270448.1:c.1437_1444del	NP_001257377.1:p.Lys479AsnfsTer4
XM_006721516.2:c.1665_1672del	XP_006721579.2:p.Lys555AsnfsTer4
XM_011523829.1:c.1563_1570del	XP_011522131.1:p.Lys521AsnfsTer4
XM_011523830.1:c.1563_1570del	XP_011522132.1:p.Lys521AsnfsTer4
XR_934021.1:n.1768_1775del
XR_934022.1:n.1674_1681del
XR_934023.1:n.1674_1681del
XM_006721516.3:c.1665_1672del	XP_006721579.2:p.Lys555AsnfsTer4
XM_011523829.2:c.1563_1570del	XP_011522131.1:p.Lys521AsnfsTer4
XM_011523830.2:c.1563_1570del	XP_011522132.1:p.Lys521AsnfsTer4
XM_024450741.1:c.1653_1660del	XP_024306509.1:p.Lys551AsnfsTer4
XR_934021.2:n.1720_1727del
XR_934022.2:n.1626_1633del
XR_934023.2:n.1626_1633del
NM_000018.4:c.1665_1672del MANE Select	NP_000009.1:p.Lys555AsnfsTer4
NM_001033859.3:c.1599_1606del	NP_001029031.1:p.Lys533AsnfsTer4
NM_001270447.2:c.1734_1741del	NP_001257376.1:p.Lys578AsnfsTer4
NM_001270448.2:c.1437_1444del	NP_001257377.1:p.Lys479AsnfsTer4