Canonical Allele Identifier: CA2742323541

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474037_6474046del , CM000663.2:g.6474037_6474046del	GRCh38
NC_000001.10:g.6534097_6534106del , CM000663.1:g.6534097_6534106del	GRCh37
NC_000001.9:g.6456684_6456693del	NCBI36
NG_007978.1:g.50968_50977del , LRG_262:g.50968_50977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.562_571del	ENSP00000344570.5:p.Gln188GlyfsTer?
ENST00000377728.8:c.562_571del MANE Select	ENSP00000366957.3:p.Gln188GlyfsTer?
ENST00000377740.5:c.562_571del	ENSP00000366969.4:p.Gln188GlyfsTer?
ENST00000377748.6:c.736_745del	ENSP00000366977.2:p.Gln246GlyfsTer?
ENST00000400913.6:c.562_571del	ENSP00000383704.1:p.Gln188GlyfsTer?
ENST00000400915.8:c.673_682del	ENSP00000383706.4:p.Gln225GlyfsTer?
ENST00000489097.6:n.1038_1047del
ENST00000535355.6:c.769_778del	ENSP00000441445.1:p.Gln257GlyfsTer?
ENST00000537245.6:c.673_682del	ENSP00000439625.2:p.Gln225GlyfsTer?
ENST00000673471.2:c.859_868del	ENSP00000500749.1:p.Gln287GlyfsTer?
ENST00000674790.1:c.*774_*783del	ENSP00000502815.1:n.*774_*783del
ENST00000675123.1:c.562_571del	ENSP00000502132.1:p.Gln188GlyfsTer?
ENST00000675548.1:c.*390_*399del	ENSP00000502684.1:n.*390_*399del
ENST00000675694.1:c.562_571del	ENSP00000501925.1:p.Gln188GlyfsTer?
ENST00000340850.9:c.562_571del	ENSP00000344570.5:p.Gln188GlyfsTer?
ENST00000377725.5:c.562_571del	ENSP00000366954.1:p.Gln188GlyfsTer?
ENST00000377728.7:c.562_571del	ENSP00000366957.3:p.Gln188GlyfsTer?
ENST00000377732.5:c.673_682del	ENSP00000366961.1:p.Gln225GlyfsTer?
ENST00000377740.4:c.793_802del	ENSP00000366969.3:p.Gln265GlyfsTer?
ENST00000377748.5:c.793_802del	ENSP00000366977.1:p.Gln265GlyfsTer?
ENST00000400913.5:c.562_571del	ENSP00000383704.1:p.Gln188GlyfsTer?
ENST00000400915.7:c.730_739del	ENSP00000383706.3:p.Gln244GlyfsTer?
ENST00000489097.5:n.1038_1047del
ENST00000535355.5:c.769_778del	ENSP00000441445.1:p.Gln257GlyfsTer?
ENST00000537245.5:c.799_808del	ENSP00000439625.1:p.Gln267GlyfsTer?
NM_001042663.1:c.730_739del	NP_001036128.1:p.Gln244GlyfsTer?
NM_001042664.1:c.562_571del	NP_001036129.1:p.Gln188GlyfsTer?
NM_001042665.1:c.562_571del	NP_001036130.1:p.Gln188GlyfsTer?
NM_001265592.1:c.799_808del	NP_001252521.1:p.Gln267GlyfsTer?
NM_001265593.1:c.769_778del	NP_001252522.1:p.Gln257GlyfsTer?
NM_001265594.1:c.562_571del	NP_001252523.1:p.Gln188GlyfsTer?
NM_020631.4:c.562_571del	NP_065682.2:p.Gln188GlyfsTer?
NM_198681.3:c.793_802del	NP_941374.2:p.Gln265GlyfsTer?
NM_001042663.2:c.730_739del	NP_001036128.1:p.Gln244GlyfsTer?
NM_001265594.2:c.562_571del	NP_001252523.1:p.Gln188GlyfsTer?
NM_020631.5:c.562_571del	NP_065682.2:p.Gln188GlyfsTer?
NM_001042663.3:c.673_682del	NP_001036128.2:p.Gln225GlyfsTer?
NM_001265592.2:c.673_682del	NP_001252521.2:p.Gln225GlyfsTer?
NM_020631.6:c.562_571del MANE Select	NP_065682.2:p.Gln188GlyfsTer?
NM_198681.4:c.562_571del	NP_941374.3:p.Gln188GlyfsTer?