Canonical Allele Identifier: CA521018931

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6473361_6473411del , CM000663.2:g.6473361_6473411del	GRCh38
NC_000001.10:g.6533421_6533471del , CM000663.1:g.6533421_6533471del	GRCh37
NC_000001.9:g.6456008_6456058del	NCBI36
NG_007978.1:g.51599_51649del , LRG_262:g.51599_51649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.635_685del	ENSP00000344570.5:p.Glu212_Pro229delinsAla
ENST00000377728.8:c.635_685del MANE Select	ENSP00000366957.3:p.Glu212_Pro229delinsAla
ENST00000377740.5:c.635_685del	ENSP00000366969.4:p.Glu212_Pro229delinsAla
ENST00000377748.6:c.809_859del	ENSP00000366977.2:p.Glu270_Pro287delinsAla
ENST00000400913.6:c.635_685del	ENSP00000383704.1:p.Glu212_Pro229delinsAla
ENST00000400915.8:c.746_796del	ENSP00000383706.4:p.Glu249_Pro266delinsAla
ENST00000489097.6:n.1111_1161del
ENST00000535355.6:c.842_892del	ENSP00000441445.1:p.Glu281_Pro298delinsAla
ENST00000537245.6:c.746_796del	ENSP00000439625.2:p.Glu249_Pro266delinsAla
ENST00000673471.2:c.932_982del	ENSP00000500749.1:p.Glu311_Pro328delinsAla
ENST00000674790.1:c.*847_*897del	ENSP00000502815.1:n.*847_*897del
ENST00000675123.1:c.635_685del	ENSP00000502132.1:p.Glu212_Pro229delinsAla
ENST00000675548.1:c.*463_*513del	ENSP00000502684.1:n.*463_*513del
ENST00000675694.1:c.635_685del	ENSP00000501925.1:p.Glu212_Pro229delinsAla
ENST00000340850.9:c.635_685del	ENSP00000344570.5:p.Glu212_Pro229delinsAla
ENST00000377725.5:c.635_685del	ENSP00000366954.1:p.Glu212_Pro229delinsAla
ENST00000377728.7:c.635_685del	ENSP00000366957.3:p.Glu212_Pro229delinsAla
ENST00000377732.5:c.746_796del	ENSP00000366961.1:p.Glu249_Pro266delinsAla
ENST00000377740.4:c.866_916del	ENSP00000366969.3:p.Glu289_Pro306delinsAla
ENST00000377748.5:c.866_916del	ENSP00000366977.1:p.Glu289_Pro306delinsAla
ENST00000400913.5:c.635_685del	ENSP00000383704.1:p.Glu212_Pro229delinsAla
ENST00000400915.7:c.803_853del	ENSP00000383706.3:p.Glu268_Pro285delinsAla
ENST00000489097.5:n.1111_1161del
ENST00000535355.5:c.842_892del	ENSP00000441445.1:p.Glu281_Pro298delinsAla
ENST00000537245.5:c.872_922del	ENSP00000439625.1:p.Glu291_Pro308delinsAla
NM_001042663.1:c.803_853del	NP_001036128.1:p.Glu268_Pro285delinsAla
NM_001042664.1:c.635_685del	NP_001036129.1:p.Glu212_Pro229delinsAla
NM_001042665.1:c.635_685del	NP_001036130.1:p.Glu212_Pro229delinsAla
NM_001265592.1:c.872_922del	NP_001252521.1:p.Glu291_Pro308delinsAla
NM_001265593.1:c.842_892del	NP_001252522.1:p.Glu281_Pro298delinsAla
NM_001265594.1:c.635_685del	NP_001252523.1:p.Glu212_Pro229delinsAla
NM_020631.4:c.635_685del	NP_065682.2:p.Glu212_Pro229delinsAla
NM_198681.3:c.866_916del	NP_941374.2:p.Glu289_Pro306delinsAla
NM_001042663.2:c.803_853del	NP_001036128.1:p.Glu268_Pro285delinsAla
NM_001265594.2:c.635_685del	NP_001252523.1:p.Glu212_Pro229delinsAla
NM_020631.5:c.635_685del	NP_065682.2:p.Glu212_Pro229delinsAla
NM_001042663.3:c.746_796del	NP_001036128.2:p.Glu249_Pro266delinsAla
NM_001265592.2:c.746_796del	NP_001252521.2:p.Glu249_Pro266delinsAla
NM_020631.6:c.635_685del MANE Select	NP_065682.2:p.Glu212_Pro229delinsAla
NM_198681.4:c.635_685del	NP_941374.3:p.Glu212_Pro229delinsAla