Canonical Allele Identifier: CA2245699166

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220931_7220937delinsACGATCC , CM000679.2:g.7220931_7220937delinsACGATCC	GRCh38
NC_000017.10:g.7124250_7124256delinsACGATCC , CM000679.1:g.7124250_7124256delinsACGATCC	GRCh37
NC_000017.9:g.7064974_7064980delinsACGATCC	NCBI36
NG_007975.1:g.6098_6104delinsACGATCC
NG_008391.2:g.4114_4120delinsGGATCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.350_356delinsACGATCC MANE Select	ENSP00000349297.5:p.Asn117=
ENST00000322910.9:c.*305_*311delinsACGATCC	ENSP00000325395.5:n.*305_*311delinsACGATCC
ENST00000350303.9:c.284_290delinsACGATCC	ENSP00000344152.5:p.Asn95=
ENST00000356839.9:c.350_356delinsACGATCC	ENSP00000349297.5:p.Asn117=
ENST00000543245.6:c.419_425delinsACGATCC	ENSP00000438689.2:p.Asn140=
ENST00000577191.5:n.427_433delinsACGATCC
ENST00000577433.5:n.558_564delinsACGATCC
ENST00000577857.5:n.293+101_293+107delinsACGATCC
ENST00000579286.5:n.531_537delinsACGATCC
ENST00000579886.2:c.202-14_202-8delinsACGATCC	ENSP00000463246.1:n.202-14_202-8delinsACGATCC
ENST00000580365.1:n.81_87delinsACGATCC
ENST00000581378.5:c.49_55delinsACGATCC
ENST00000581562.5:n.397_403delinsACGATCC
ENST00000582056.5:n.533_539delinsACGATCC
ENST00000582166.1:n.331_337delinsACGATCC
ENST00000583312.5:c.350_356delinsACGATCC	ENSP00000467920.1:p.Asn117=
ENST00000584103.5:c.383_389delinsACGATCC	ENSP00000465353.1:p.Asn128=
NM_000018.3:c.350_356delinsACGATCC	NP_000009.1:p.Asn117=
NM_001033859.2:c.284_290delinsACGATCC	NP_001029031.1:p.Asn95=
NM_001270447.1:c.419_425delinsACGATCC	NP_001257376.1:p.Asn140=
NM_001270448.1:c.122_128delinsACGATCC	NP_001257377.1:p.Asn41=
XM_006721516.2:c.350_356delinsACGATCC	XP_006721579.2:p.Asn117=
XM_011523829.1:c.350_356delinsACGATCC	XP_011522131.1:p.Asn117=
XM_011523830.1:c.350_356delinsACGATCC	XP_011522132.1:p.Asn117=
XR_934021.1:n.457_463delinsACGATCC
XR_934022.1:n.457_463delinsACGATCC
XR_934023.1:n.457_463delinsACGATCC
XM_006721516.3:c.350_356delinsACGATCC	XP_006721579.2:p.Asn117=
XM_011523829.2:c.350_356delinsACGATCC	XP_011522131.1:p.Asn117=
XM_011523830.2:c.350_356delinsACGATCC	XP_011522132.1:p.Asn117=
XM_024450741.1:c.350_356delinsACGATCC	XP_024306509.1:p.Asn117=
XR_934021.2:n.409_415delinsACGATCC
XR_934022.2:n.409_415delinsACGATCC
XR_934023.2:n.409_415delinsACGATCC
NM_000018.4:c.350_356delinsACGATCC MANE Select	NP_000009.1:p.Asn117=
NM_001033859.3:c.284_290delinsACGATCC	NP_001029031.1:p.Asn95=
NM_001270447.2:c.419_425delinsACGATCC	NP_001257376.1:p.Asn140=
NM_001270448.2:c.122_128delinsACGATCC	NP_001257377.1:p.Asn41=