Canonical Allele Identifier: CA645595051

Gene: ACADVL

Linked Data

• COSMIC: COSM112135

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224373_7224374insCCT , CM000679.2:g.7224373_7224374insCCT	GRCh38
NC_000017.10:g.7127692_7127693insCCT , CM000679.1:g.7127692_7127693insCCT	GRCh37
NC_000017.9:g.7068416_7068417insCCT	NCBI36
NG_007975.1:g.9540_9541insCCT
NG_008391.2:g.678_679insGGA
NG_033038.1:g.15172_15173insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1585_1586insCCT MANE Select	ENSP00000349297.5:p.Glu528_Leu529insSer
ENST00000322910.9:c.*1540_*1541insCCT	ENSP00000325395.5:n.*1540_*1541insCCT
ENST00000350303.9:c.1519_1520insCCT	ENSP00000344152.5:p.Glu506_Leu507insSer
ENST00000356839.9:c.1585_1586insCCT	ENSP00000349297.5:p.Glu528_Leu529insSer
ENST00000542255.6:c.443_444insCCT
ENST00000543245.6:c.1654_1655insCCT	ENSP00000438689.2:p.Glu551_Leu552insSer
ENST00000578319.5:n.80_81insCCT
ENST00000578711.1:n.869_870insCCT
ENST00000578809.5:n.157_158insCCT
ENST00000579391.1:n.193_194insCCT
ENST00000579425.5:n.701_702insCCT
ENST00000579546.1:c.324_325insCCT
ENST00000579894.5:n.372_373insCCT
ENST00000582450.1:n.93_94insCCT
ENST00000583074.5:n.206_207insCCT
ENST00000583850.5:n.360_361insCCT
ENST00000583858.5:c.516_517insCCT
ENST00000585203.6:n.776_777insCCT
NM_000018.3:c.1585_1586insCCT	NP_000009.1:p.Glu528_Leu529insSer
NM_001033859.2:c.1519_1520insCCT	NP_001029031.1:p.Glu506_Leu507insSer
NM_001270447.1:c.1654_1655insCCT	NP_001257376.1:p.Glu551_Leu552insSer
NM_001270448.1:c.1357_1358insCCT	NP_001257377.1:p.Glu452_Leu453insSer
XM_006721516.2:c.1585_1586insCCT	XP_006721579.2:p.Glu528_Leu529insSer
XM_011523829.1:c.1487_1488insCCT	XP_011522131.1:p.Val496_Glu497insLeu
XM_011523830.1:c.1487_1488insCCT	XP_011522132.1:p.Val496_Glu497insLeu
XR_934021.1:n.1692_1693insCCT
XR_934022.1:n.1594_1595insCCT
XR_934023.1:n.1594_1595insCCT
XM_006721516.3:c.1585_1586insCCT	XP_006721579.2:p.Glu528_Leu529insSer
XM_011523829.2:c.1487_1488insCCT	XP_011522131.1:p.Val496_Glu497insLeu
XM_011523830.2:c.1487_1488insCCT	XP_011522132.1:p.Val496_Glu497insLeu
XM_024450741.1:c.1487_1488insCCT	XP_024306509.1:p.Val496_Glu497insLeu
XR_934021.2:n.1644_1645insCCT
XR_934022.2:n.1546_1547insCCT
XR_934023.2:n.1546_1547insCCT
NM_000018.4:c.1585_1586insCCT MANE Select	NP_000009.1:p.Glu528_Leu529insSer
NM_001033859.3:c.1519_1520insCCT	NP_001029031.1:p.Glu506_Leu507insSer
NM_001270447.2:c.1654_1655insCCT	NP_001257376.1:p.Glu551_Leu552insSer
NM_001270448.2:c.1357_1358insCCT	NP_001257377.1:p.Glu452_Leu453insSer