Canonical Allele Identifier: CA919784481

Gene: ACADVL

Linked Data

• dbSNP Id: rs1567569344

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224753_7224754insTTGGGC , CM000679.2:g.7224753_7224754insTTGGGC	GRCh38
NC_000017.10:g.7128072_7128073insTTGGGC , CM000679.1:g.7128072_7128073insTTGGGC	GRCh37
NC_000017.9:g.7068796_7068797insTTGGGC	NCBI36
NG_007975.1:g.9920_9921insTTGGGC
NG_008391.2:g.301_302insAAGCCC
NG_033038.1:g.14795_14796insAAGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+39_1751+40insTTGGGC MANE Select	ENSP00000349297.5:n.1751+39_1751+40insTTGGGC
ENST00000322910.9:c.*1706+39_*1706+40insTTGGGC	ENSP00000325395.5:n.*1706+39_*1706+40insTTGGGC
ENST00000350303.9:c.1685+39_1685+40insTTGGGC	ENSP00000344152.5:n.1685+39_1685+40insTTGGGC
ENST00000356839.9:c.1751+39_1751+40insTTGGGC	ENSP00000349297.5:n.1751+39_1751+40insTTGGGC
ENST00000542255.6:c.575_576insTTGGGC
ENST00000543245.6:c.1820+39_1820+40insTTGGGC	ENSP00000438689.2:n.1820+39_1820+40insTTGGGC
ENST00000578033.1:n.121_122insTTGGGC
ENST00000578319.5:n.332+39_332+40insTTGGGC
ENST00000578711.1:n.1249_1250insTTGGGC
ENST00000578809.5:n.323+39_323+40insTTGGGC
ENST00000579425.5:n.867+39_867+40insTTGGGC
ENST00000579546.1:c.486+39_486+40insTTGGGC
ENST00000583074.5:n.338_339insTTGGGC
ENST00000583848.5:c.117+39_117+40insTTGGGC	ENSP00000466487.1:n.117+39_117+40insTTGGGC
ENST00000583850.5:n.522+39_522+40insTTGGGC
ENST00000583858.5:c.682+39_682+40insTTGGGC
ENST00000585203.6:n.942+39_942+40insTTGGGC
NM_000018.3:c.1751+39_1751+40insTTGGGC	NP_000009.1:n.1751+39_1751+40insTTGGGC
NM_001033859.2:c.1685+39_1685+40insTTGGGC	NP_001029031.1:n.1685+39_1685+40insTTGGGC
NM_001270447.1:c.1820+39_1820+40insTTGGGC	NP_001257376.1:n.1820+39_1820+40insTTGGGC
NM_001270448.1:c.1523+39_1523+40insTTGGGC	NP_001257377.1:n.1523+39_1523+40insTTGGGC
XM_006721516.2:c.1717_1718insTTGGGC	XP_006721579.2:p.Gly572_Pro573insLeuGly
XM_011523829.1:c.1615_1616insTTGGGC	XP_011522131.1:p.Gly538_Pro539insLeuGly
XM_011523830.1:c.1649+39_1649+40insTTGGGC	XP_011522132.1:n.1649+39_1649+40insTTGGGC
XR_934021.1:n.1854+39_1854+40insTTGGGC
XR_934022.1:n.1760+39_1760+40insTTGGGC
XR_934023.1:n.1726_1727insTTGGGC
XM_006721516.3:c.1717_1718insTTGGGC	XP_006721579.2:p.Gly572_Pro573insLeuGly
XM_011523829.2:c.1615_1616insTTGGGC	XP_011522131.1:p.Gly538_Pro539insLeuGly
XM_011523830.2:c.1649+39_1649+40insTTGGGC	XP_011522132.1:n.1649+39_1649+40insTTGGGC
XM_024450741.1:c.1739+39_1739+40insTTGGGC	XP_024306509.1:n.1739+39_1739+40insTTGGGC
XR_934021.2:n.1806+39_1806+40insTTGGGC
XR_934022.2:n.1712+39_1712+40insTTGGGC
XR_934023.2:n.1678_1679insTTGGGC
NM_000018.4:c.1751+39_1751+40insTTGGGC MANE Select	NP_000009.1:n.1751+39_1751+40insTTGGGC
NM_001033859.3:c.1685+39_1685+40insTTGGGC	NP_001029031.1:n.1685+39_1685+40insTTGGGC
NM_001270447.2:c.1820+39_1820+40insTTGGGC	NP_001257376.1:n.1820+39_1820+40insTTGGGC
NM_001270448.2:c.1523+39_1523+40insTTGGGC	NP_001257377.1:n.1523+39_1523+40insTTGGGC