Canonical Allele Identifier: CA561068

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467936del , CM000663.2:g.6467936del	GRCh38
NC_000001.10:g.6527996del , CM000663.1:g.6527996del	GRCh37
NC_000001.9:g.6450583del	NCBI36
NG_007978.1:g.57076del , LRG_262:g.57076del
NG_029910.1:g.3262del

Transcript Alleles

HGVS	Amino-acid Change
NM_020631.6:c.2902del MANE Select	NP_065682.2:p.Val968SerfsTer16
ENST00000377728.8:c.2902del MANE Select	ENSP00000366957.3:p.Val968SerfsTer16
NM_001042663.1:c.3070del	NP_001036128.1:p.Val1024SerfsTer16
NM_001042663.2:c.3070del	NP_001036128.1:p.Val1024SerfsTer16
NM_001042663.3:c.3013del	NP_001036128.2:p.Val1005SerfsTer16
NM_001042664.1:c.2902del	NP_001036129.1:p.Val968SerfsTer16
NM_001042665.1:c.2902del	NP_001036130.1:p.Val968SerfsTer16
NM_001265592.1:c.3139del	NP_001252521.1:p.Val1047SerfsTer16
NM_001265592.2:c.3013del	NP_001252521.2:p.Val1005SerfsTer16
NM_001265593.1:c.3109del	NP_001252522.1:p.Val1037SerfsTer16
NM_001265594.1:c.2738-36del	NP_001252523.1:n.2738-36del
NM_001265594.2:c.2738-36del	NP_001252523.1:n.2738-36del
NM_020631.4:c.2902del	NP_065682.2:p.Val968SerfsTer16
NM_020631.5:c.2902del	NP_065682.2:p.Val968SerfsTer16
NM_198681.3:c.3133del	NP_941374.2:p.Val1045SerfsTer16
NM_198681.4:c.2902del	NP_941374.3:p.Val968SerfsTer16
ENST00000340850.10:c.2902del	ENSP00000344570.5:p.Val968SerfsTer16
ENST00000340850.9:c.2902del	ENSP00000344570.5:p.Val968SerfsTer16
ENST00000377725.5:c.2738-36del	ENSP00000366954.1:n.2738-36del
ENST00000377728.7:c.2902del	ENSP00000366957.3:p.Val968SerfsTer16
ENST00000377732.5:c.3013del	ENSP00000366961.1:p.Val1005SerfsTer16
ENST00000377740.4:c.2481-41del	ENSP00000366969.3:n.2481-41del
ENST00000377740.5:c.2902del	ENSP00000366969.4:p.Val968SerfsTer16
ENST00000377748.5:c.3133del	ENSP00000366977.1:p.Val1045SerfsTer16
ENST00000377748.6:c.3076del	ENSP00000366977.2:p.Val1026SerfsTer16
ENST00000400913.5:c.2902del	ENSP00000383704.1:p.Val968SerfsTer16
ENST00000400913.6:c.2902del	ENSP00000383704.1:p.Val968SerfsTer16
ENST00000400915.7:c.3070del	ENSP00000383706.3:p.Val1024SerfsTer16
ENST00000400915.8:c.3013del	ENSP00000383706.4:p.Val1005SerfsTer16
ENST00000487949.4:n.2104del
ENST00000489097.5:n.3378del
ENST00000489097.6:n.3378del
ENST00000535355.5:c.3109del	ENSP00000441445.1:p.Val1037SerfsTer16
ENST00000535355.6:c.3109del	ENSP00000441445.1:p.Val1037SerfsTer16
ENST00000537245.5:c.3139del	ENSP00000439625.1:p.Val1047SerfsTer16
ENST00000537245.6:c.3013del	ENSP00000439625.2:p.Val1005SerfsTer16
ENST00000673471.2:c.3199del	ENSP00000500749.1:p.Val1067SerfsTer16
ENST00000674790.1:c.*3114del	ENSP00000502815.1:n.*3114del
ENST00000675123.1:c.2250-41del	ENSP00000502132.1:n.2250-41del
ENST00000675548.1:c.*2730del	ENSP00000502684.1:n.*2730del
ENST00000675694.1:c.2902del	ENSP00000501925.1:p.Val968SerfsTer16
ENST00000675976.1:c.775del	ENSP00000501611.1:p.Val259SerfsTer16