Canonical Allele Identifier: CA2992174290

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6473357_6473358del , CM000663.2:g.6473357_6473358del	GRCh38
NC_000001.10:g.6533417_6533418del , CM000663.1:g.6533417_6533418del	GRCh37
NC_000001.9:g.6456004_6456005del	NCBI36
NG_007978.1:g.51652_51653del , LRG_262:g.51652_51653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.688_689del	ENSP00000344570.5:p.Ser230ArgfsTer?
ENST00000377728.8:c.688_689del MANE Select	ENSP00000366957.3:p.Ser230ArgfsTer?
ENST00000377740.5:c.688_689del	ENSP00000366969.4:p.Ser230ArgfsTer?
ENST00000377748.6:c.862_863del	ENSP00000366977.2:p.Ser288ArgfsTer?
ENST00000400913.6:c.688_689del	ENSP00000383704.1:p.Ser230ArgfsTer?
ENST00000400915.8:c.799_800del	ENSP00000383706.4:p.Ser267ArgfsTer?
ENST00000489097.6:n.1164_1165del
ENST00000535355.6:c.895_896del	ENSP00000441445.1:p.Ser299ArgfsTer?
ENST00000537245.6:c.799_800del	ENSP00000439625.2:p.Ser267ArgfsTer?
ENST00000673471.2:c.985_986del	ENSP00000500749.1:p.Ser329ArgfsTer?
ENST00000674790.1:c.*900_*901del	ENSP00000502815.1:n.*900_*901del
ENST00000675123.1:c.688_689del	ENSP00000502132.1:p.Ser230ArgfsTer?
ENST00000675548.1:c.*516_*517del	ENSP00000502684.1:n.*516_*517del
ENST00000675694.1:c.688_689del	ENSP00000501925.1:p.Ser230ArgfsTer?
ENST00000340850.9:c.688_689del	ENSP00000344570.5:p.Ser230ArgfsTer?
ENST00000377725.5:c.688_689del	ENSP00000366954.1:p.Ser230ArgfsTer?
ENST00000377728.7:c.688_689del	ENSP00000366957.3:p.Ser230ArgfsTer?
ENST00000377732.5:c.799_800del	ENSP00000366961.1:p.Ser267ArgfsTer?
ENST00000377740.4:c.919_920del	ENSP00000366969.3:p.Ser307ArgfsTer?
ENST00000377748.5:c.919_920del	ENSP00000366977.1:p.Ser307ArgfsTer?
ENST00000400913.5:c.688_689del	ENSP00000383704.1:p.Ser230ArgfsTer?
ENST00000400915.7:c.856_857del	ENSP00000383706.3:p.Ser286ArgfsTer?
ENST00000489097.5:n.1164_1165del
ENST00000535355.5:c.895_896del	ENSP00000441445.1:p.Ser299ArgfsTer?
ENST00000537245.5:c.925_926del	ENSP00000439625.1:p.Ser309ArgfsTer?
NM_001042663.1:c.856_857del	NP_001036128.1:p.Ser286ArgfsTer?
NM_001042664.1:c.688_689del	NP_001036129.1:p.Ser230ArgfsTer?
NM_001042665.1:c.688_689del	NP_001036130.1:p.Ser230ArgfsTer?
NM_001265592.1:c.925_926del	NP_001252521.1:p.Ser309ArgfsTer?
NM_001265593.1:c.895_896del	NP_001252522.1:p.Ser299ArgfsTer?
NM_001265594.1:c.688_689del	NP_001252523.1:p.Ser230ArgfsTer?
NM_020631.4:c.688_689del	NP_065682.2:p.Ser230ArgfsTer?
NM_198681.3:c.919_920del	NP_941374.2:p.Ser307ArgfsTer?
NM_001042663.2:c.856_857del	NP_001036128.1:p.Ser286ArgfsTer?
NM_001265594.2:c.688_689del	NP_001252523.1:p.Ser230ArgfsTer?
NM_020631.5:c.688_689del	NP_065682.2:p.Ser230ArgfsTer?
NM_001042663.3:c.799_800del	NP_001036128.2:p.Ser267ArgfsTer?
NM_001265592.2:c.799_800del	NP_001252521.2:p.Ser267ArgfsTer?
NM_020631.6:c.688_689del MANE Select	NP_065682.2:p.Ser230ArgfsTer?
NM_198681.4:c.688_689del	NP_941374.3:p.Ser230ArgfsTer?