Canonical Allele Identifier: CA2245715265

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224716_7224719delinsTGAG , CM000679.2:g.7224716_7224719delinsTGAG	GRCh38
NC_000017.10:g.7128035_7128038delinsTGAG , CM000679.1:g.7128035_7128038delinsTGAG	GRCh37
NC_000017.9:g.7068759_7068762delinsTGAG	NCBI36
NG_007975.1:g.9883_9886delinsTGAG
NG_008391.2:g.332_335delinsCTCA
NG_033038.1:g.14826_14829delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+2_1751+5delinsTGAG MANE Select	ENSP00000349297.5:n.1751+2_1751+5delinsTGAG
ENST00000322910.9:c.*1706+2_*1706+5delinsTGAG	ENSP00000325395.5:n.*1706+2_*1706+5delinsTGAG
ENST00000350303.9:c.1685+2_1685+5delinsTGAG	ENSP00000344152.5:n.1685+2_1685+5delinsTGAG
ENST00000356839.9:c.1751+2_1751+5delinsTGAG	ENSP00000349297.5:n.1751+2_1751+5delinsTGAG
ENST00000542255.6:c.538_541delinsTGAG
ENST00000543245.6:c.1820+2_1820+5delinsTGAG	ENSP00000438689.2:n.1820+2_1820+5delinsTGAG
ENST00000578033.1:n.84_87delinsTGAG
ENST00000578319.5:n.332+2_332+5delinsTGAG
ENST00000578711.1:n.1212_1215delinsTGAG
ENST00000578809.5:n.323+2_323+5delinsTGAG
ENST00000579425.5:n.867+2_867+5delinsTGAG
ENST00000579546.1:c.486+2_486+5delinsTGAG
ENST00000583074.5:n.301_304delinsTGAG
ENST00000583848.5:c.117+2_117+5delinsTGAG	ENSP00000466487.1:n.117+2_117+5delinsTGAG
ENST00000583850.5:n.522+2_522+5delinsTGAG
ENST00000583858.5:c.682+2_682+5delinsTGAG
ENST00000585203.6:n.942+2_942+5delinsTGAG
NM_000018.3:c.1751+2_1751+5delinsTGAG	NP_000009.1:n.1751+2_1751+5delinsTGAG
NM_001033859.2:c.1685+2_1685+5delinsTGAG	NP_001029031.1:n.1685+2_1685+5delinsTGAG
NM_001270447.1:c.1820+2_1820+5delinsTGAG	NP_001257376.1:n.1820+2_1820+5delinsTGAG
NM_001270448.1:c.1523+2_1523+5delinsTGAG	NP_001257377.1:n.1523+2_1523+5delinsTGAG
XM_006721516.2:c.1680_1683delinsTGAG	XP_006721579.2:p.Ser560=
XM_011523829.1:c.1578_1581delinsTGAG	XP_011522131.1:p.Ser526=
XM_011523830.1:c.1649+2_1649+5delinsTGAG	XP_011522132.1:n.1649+2_1649+5delinsTGAG
XR_934021.1:n.1854+2_1854+5delinsTGAG
XR_934022.1:n.1760+2_1760+5delinsTGAG
XR_934023.1:n.1689_1692delinsTGAG
XM_006721516.3:c.1680_1683delinsTGAG	XP_006721579.2:p.Ser560=
XM_011523829.2:c.1578_1581delinsTGAG	XP_011522131.1:p.Ser526=
XM_011523830.2:c.1649+2_1649+5delinsTGAG	XP_011522132.1:n.1649+2_1649+5delinsTGAG
XM_024450741.1:c.1739+2_1739+5delinsTGAG	XP_024306509.1:n.1739+2_1739+5delinsTGAG
XR_934021.2:n.1806+2_1806+5delinsTGAG
XR_934022.2:n.1712+2_1712+5delinsTGAG
XR_934023.2:n.1641_1644delinsTGAG
NM_000018.4:c.1751+2_1751+5delinsTGAG MANE Select	NP_000009.1:n.1751+2_1751+5delinsTGAG
NM_001033859.3:c.1685+2_1685+5delinsTGAG	NP_001029031.1:n.1685+2_1685+5delinsTGAG
NM_001270447.2:c.1820+2_1820+5delinsTGAG	NP_001257376.1:n.1820+2_1820+5delinsTGAG
NM_001270448.2:c.1523+2_1523+5delinsTGAG	NP_001257377.1:n.1523+2_1523+5delinsTGAG