Canonical Allele Identifier: CA2245700040

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221551_7221554delinsTGGA , CM000679.2:g.7221551_7221554delinsTGGA	GRCh38
NC_000017.10:g.7124870_7124873delinsTGGA , CM000679.1:g.7124870_7124873delinsTGGA	GRCh37
NC_000017.9:g.7065594_7065597delinsTGGA	NCBI36
NG_007975.1:g.6718_6721delinsTGGA
NG_008391.2:g.3497_3500delinsTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.491_494delinsTGGA MANE Select	ENSP00000349297.5:p.Val164=
ENST00000322910.9:c.*446_*449delinsTGGA	ENSP00000325395.5:n.*446_*449delinsTGGA
ENST00000350303.9:c.425_428delinsTGGA	ENSP00000344152.5:p.Val142=
ENST00000356839.9:c.491_494delinsTGGA	ENSP00000349297.5:p.Val164=
ENST00000543245.6:c.560_563delinsTGGA	ENSP00000438689.2:p.Val187=
ENST00000577191.5:n.568_571delinsTGGA
ENST00000577433.5:n.699_702delinsTGGA
ENST00000577857.5:n.307_310delinsTGGA
ENST00000579286.5:n.672_675delinsTGGA
ENST00000579886.2:c.329_332delinsTGGA	ENSP00000463246.1:p.Val110=
ENST00000580365.1:n.222_225delinsTGGA
ENST00000581378.5:c.209_212delinsTGGA
ENST00000581562.5:n.525-401_525-398delinsTGGA
ENST00000582166.1:n.472_475delinsTGGA
ENST00000583312.5:c.491_494delinsTGGA	ENSP00000467920.1:p.Val164=
ENST00000583760.1:n.273_276delinsTGGA
NM_000018.3:c.491_494delinsTGGA	NP_000009.1:p.Val164=
NM_001033859.2:c.425_428delinsTGGA	NP_001029031.1:p.Val142=
NM_001270447.1:c.560_563delinsTGGA	NP_001257376.1:p.Val187=
NM_001270448.1:c.263_266delinsTGGA	NP_001257377.1:p.Val88=
XM_006721516.2:c.491_494delinsTGGA	XP_006721579.2:p.Val164=
XM_011523829.1:c.491_494delinsTGGA	XP_011522131.1:p.Val164=
XM_011523830.1:c.491_494delinsTGGA	XP_011522132.1:p.Val164=
XR_934021.1:n.598_601delinsTGGA
XR_934022.1:n.598_601delinsTGGA
XR_934023.1:n.598_601delinsTGGA
XM_006721516.3:c.491_494delinsTGGA	XP_006721579.2:p.Val164=
XM_011523829.2:c.491_494delinsTGGA	XP_011522131.1:p.Val164=
XM_011523830.2:c.491_494delinsTGGA	XP_011522132.1:p.Val164=
XM_024450741.1:c.491_494delinsTGGA	XP_024306509.1:p.Val164=
XR_934021.2:n.550_553delinsTGGA
XR_934022.2:n.550_553delinsTGGA
XR_934023.2:n.550_553delinsTGGA
NM_000018.4:c.491_494delinsTGGA MANE Select	NP_000009.1:p.Val164=
NM_001033859.3:c.425_428delinsTGGA	NP_001029031.1:p.Val142=
NM_001270447.2:c.560_563delinsTGGA	NP_001257376.1:p.Val187=
NM_001270448.2:c.263_266delinsTGGA	NP_001257377.1:p.Val88=