Canonical Allele Identifier: CA2245716224

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225005_7225007delinsTGG , CM000679.2:g.7225005_7225007delinsTGG	GRCh38
NC_000017.10:g.7128324_7128326delinsTGG , CM000679.1:g.7128324_7128326delinsTGG	GRCh37
NC_000017.9:g.7069048_7069050delinsTGG	NCBI36
NG_007975.1:g.10172_10174delinsTGG
NG_008391.2:g.44_46delinsCCA
NG_033038.1:g.14538_14540delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1876_1878delinsTGG MANE Select	ENSP00000349297.5:p.Trp626=
ENST00000322910.9:c.*1831_*1833delinsTGG	ENSP00000325395.5:n.*1831_*1833delinsTGG
ENST00000350303.9:c.1810_1812delinsTGG	ENSP00000344152.5:p.Trp604=
ENST00000356839.9:c.1876_1878delinsTGG	ENSP00000349297.5:p.Trp626=
ENST00000542255.6:c.755_757delinsTGG
ENST00000543245.6:c.1945_1947delinsTGG	ENSP00000438689.2:p.Trp649=
ENST00000578033.1:n.301_303delinsTGG
ENST00000578319.5:n.457_459delinsTGG
ENST00000578711.1:n.1501_1503delinsTGG
ENST00000578809.5:n.448_450delinsTGG
ENST00000579425.5:n.992_994delinsTGG
ENST00000583848.5:c.242_244delinsTGG	ENSP00000466487.1:n.242_244delinsTGG
ENST00000583850.5:n.647_649delinsTGG
ENST00000583858.5:c.807_809delinsTGG
NM_000018.3:c.1876_1878delinsTGG	NP_000009.1:p.Trp626=
NM_001033859.2:c.1810_1812delinsTGG	NP_001029031.1:p.Trp604=
NM_001270447.1:c.1945_1947delinsTGG	NP_001257376.1:p.Trp649=
NM_001270448.1:c.1648_1650delinsTGG	NP_001257377.1:p.Trp550=
XM_006721516.2:c.1897_1899delinsTGG	XP_006721579.2:p.Trp633=
XM_011523829.1:c.1795_1797delinsTGG	XP_011522131.1:p.Trp599=
XM_011523830.1:c.1774_1776delinsTGG	XP_011522132.1:p.Trp592=
XR_934021.1:n.1979_1981delinsTGG
XR_934022.1:n.1885_1887delinsTGG
XR_934023.1:n.1906_1908delinsTGG
XM_006721516.3:c.1897_1899delinsTGG	XP_006721579.2:p.Trp633=
XM_011523829.2:c.1795_1797delinsTGG	XP_011522131.1:p.Trp599=
XM_011523830.2:c.1774_1776delinsTGG	XP_011522132.1:p.Trp592=
XM_024450741.1:c.1864_1866delinsTGG	XP_024306509.1:p.Trp622=
XR_934021.2:n.1931_1933delinsTGG
XR_934022.2:n.1837_1839delinsTGG
XR_934023.2:n.1858_1860delinsTGG
NM_000018.4:c.1876_1878delinsTGG MANE Select	NP_000009.1:p.Trp626=
NM_001033859.3:c.1810_1812delinsTGG	NP_001029031.1:p.Trp604=
NM_001270447.2:c.1945_1947delinsTGG	NP_001257376.1:p.Trp649=
NM_001270448.2:c.1648_1650delinsTGG	NP_001257377.1:p.Trp550=