Canonical Allele Identifier: CA2742316341

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469155_6469175dup , CM000663.2:g.6469155_6469175dup	GRCh38
NC_000001.10:g.6529215_6529235dup , CM000663.1:g.6529215_6529235dup	GRCh37
NC_000001.9:g.6451802_6451822dup	NCBI36
NG_007978.1:g.55840_55860dup , LRG_262:g.55840_55860dup
NG_029910.1:g.2026_2046dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2121_2141dup	ENSP00000344570.5:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000377728.8:c.2121_2141dup MANE Select	ENSP00000366957.3:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000377740.5:c.2121_2141dup	ENSP00000366969.4:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000377748.6:c.2295_2315dup	ENSP00000366977.2:p.Glu772_Glu773insGluAspGluGlnGluGluGlu
ENST00000400913.6:c.2121_2141dup	ENSP00000383704.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000400915.8:c.2232_2252dup	ENSP00000383706.4:p.Glu751_Glu752insGluAspGluGlnGluGluGlu
ENST00000489097.6:n.2597_2617dup
ENST00000535355.6:c.2328_2348dup	ENSP00000441445.1:p.Glu783_Glu784insGluAspGluGlnGluGluGlu
ENST00000537245.6:c.2232_2252dup	ENSP00000439625.2:p.Glu751_Glu752insGluAspGluGlnGluGluGlu
ENST00000673471.2:c.2418_2438dup	ENSP00000500749.1:p.Glu813_Glu814insGluAspGluGlnGluGluGlu
ENST00000674790.1:c.*2333_*2353dup	ENSP00000502815.1:n.*2333_*2353dup
ENST00000675123.1:c.2121_2141dup	ENSP00000502132.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000675139.1:n.192_212dup
ENST00000675548.1:c.*1949_*1969dup	ENSP00000502684.1:n.*1949_*1969dup
ENST00000675694.1:c.2121_2141dup	ENSP00000501925.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000340850.9:c.2121_2141dup	ENSP00000344570.5:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000377725.5:c.2121_2141dup	ENSP00000366954.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000377728.7:c.2121_2141dup	ENSP00000366957.3:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000377732.5:c.2232_2252dup	ENSP00000366961.1:p.Glu751_Glu752insGluAspGluGlnGluGluGlu
ENST00000377740.4:c.2352_2372dup	ENSP00000366969.3:p.Glu791_Glu792insGluAspGluGlnGluGluGlu
ENST00000377748.5:c.2352_2372dup	ENSP00000366977.1:p.Glu791_Glu792insGluAspGluGlnGluGluGlu
ENST00000400913.5:c.2121_2141dup	ENSP00000383704.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
ENST00000400915.7:c.2289_2309dup	ENSP00000383706.3:p.Glu770_Glu771insGluAspGluGlnGluGluGlu
ENST00000487949.4:n.1323_1343dup
ENST00000489097.5:n.2597_2617dup
ENST00000535355.5:c.2328_2348dup	ENSP00000441445.1:p.Glu783_Glu784insGluAspGluGlnGluGluGlu
ENST00000537245.5:c.2358_2378dup	ENSP00000439625.1:p.Glu793_Glu794insGluAspGluGlnGluGluGlu
NM_001042663.1:c.2289_2309dup	NP_001036128.1:p.Glu770_Glu771insGluAspGluGlnGluGluGlu
NM_001042664.1:c.2121_2141dup	NP_001036129.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
NM_001042665.1:c.2121_2141dup	NP_001036130.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
NM_001265592.1:c.2358_2378dup	NP_001252521.1:p.Glu793_Glu794insGluAspGluGlnGluGluGlu
NM_001265593.1:c.2328_2348dup	NP_001252522.1:p.Glu783_Glu784insGluAspGluGlnGluGluGlu
NM_001265594.1:c.2121_2141dup	NP_001252523.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
NM_020631.4:c.2121_2141dup	NP_065682.2:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
NM_198681.3:c.2352_2372dup	NP_941374.2:p.Glu791_Glu792insGluAspGluGlnGluGluGlu
NM_001042663.2:c.2289_2309dup	NP_001036128.1:p.Glu770_Glu771insGluAspGluGlnGluGluGlu
NM_001265594.2:c.2121_2141dup	NP_001252523.1:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
NM_020631.5:c.2121_2141dup	NP_065682.2:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
NM_001042663.3:c.2232_2252dup	NP_001036128.2:p.Glu751_Glu752insGluAspGluGlnGluGluGlu
NM_001265592.2:c.2232_2252dup	NP_001252521.2:p.Glu751_Glu752insGluAspGluGlnGluGluGlu
NM_020631.6:c.2121_2141dup MANE Select	NP_065682.2:p.Glu714_Glu715insGluAspGluGlnGluGluGlu
NM_198681.4:c.2121_2141dup	NP_941374.3:p.Glu714_Glu715insGluAspGluGlnGluGluGlu