Canonical Allele Identifier: CA2740090570

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2932016
• ClinVar RCV Id: RCV003793038

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467892del , CM000663.2:g.6467892del	GRCh38
NC_000001.10:g.6527952del , CM000663.1:g.6527952del	GRCh37
NC_000001.9:g.6450539del	NCBI36
NG_007978.1:g.57119del , LRG_262:g.57119del
NG_029910.1:g.3305del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.2945del	ENSP00000344570.5:p.Lys982SerfsTer2
ENST00000377728.8:c.2945del MANE Select	ENSP00000366957.3:p.Lys982SerfsTer2
ENST00000377740.5:c.2945del	ENSP00000366969.4:p.Lys982SerfsTer2
ENST00000377748.6:c.3119del	ENSP00000366977.2:p.Lys1040SerfsTer2
ENST00000400913.6:c.2945del	ENSP00000383704.1:p.Lys982SerfsTer2
ENST00000400915.8:c.3056del	ENSP00000383706.4:p.Lys1019SerfsTer2
ENST00000489097.6:n.3421del
ENST00000535355.6:c.3152del	ENSP00000441445.1:p.Lys1051SerfsTer2
ENST00000537245.6:c.3056del	ENSP00000439625.2:p.Lys1019SerfsTer2
ENST00000673471.2:c.3242del	ENSP00000500749.1:p.Lys1081SerfsTer2
ENST00000674790.1:c.*3157del	ENSP00000502815.1:n.*3157del
ENST00000675123.1:c.2252del	ENSP00000502132.1:p.Lys751SerfsTer2
ENST00000675548.1:c.*2773del	ENSP00000502684.1:n.*2773del
ENST00000675694.1:c.2945del	ENSP00000501925.1:p.Lys982SerfsTer2
ENST00000675976.1:c.818del	ENSP00000501611.1:p.Lys273SerfsTer2
ENST00000340850.9:c.2945del	ENSP00000344570.5:p.Lys982SerfsTer2
ENST00000377725.5:c.2745del	ENSP00000366954.1:p.Ala916LeufsTer25
ENST00000377728.7:c.2945del	ENSP00000366957.3:p.Lys982SerfsTer2
ENST00000377732.5:c.3056del	ENSP00000366961.1:p.Lys1019SerfsTer2
ENST00000377740.4:c.2483del	ENSP00000366969.3:p.Lys828SerfsTer2
ENST00000377748.5:c.3176del	ENSP00000366977.1:p.Lys1059SerfsTer2
ENST00000400913.5:c.2945del	ENSP00000383704.1:p.Lys982SerfsTer2
ENST00000400915.7:c.3113del	ENSP00000383706.3:p.Lys1038SerfsTer2
ENST00000487949.4:n.2147del
ENST00000489097.5:n.3421del
ENST00000535355.5:c.3152del	ENSP00000441445.1:p.Lys1051SerfsTer2
ENST00000537245.5:c.3182del	ENSP00000439625.1:p.Lys1061SerfsTer2
NM_001042663.1:c.3113del	NP_001036128.1:p.Lys1038SerfsTer2
NM_001042664.1:c.2945del	NP_001036129.1:p.Lys982SerfsTer2
NM_001042665.1:c.2945del	NP_001036130.1:p.Lys982SerfsTer2
NM_001265592.1:c.3182del	NP_001252521.1:p.Lys1061SerfsTer2
NM_001265593.1:c.3152del	NP_001252522.1:p.Lys1051SerfsTer2
NM_001265594.1:c.2745del	NP_001252523.1:p.Ala916LeufsTer25
NM_020631.4:c.2945del	NP_065682.2:p.Lys982SerfsTer2
NM_198681.3:c.3176del	NP_941374.2:p.Lys1059SerfsTer2
NM_001042663.2:c.3113del	NP_001036128.1:p.Lys1038SerfsTer2
NM_001265594.2:c.2745del	NP_001252523.1:p.Ala916LeufsTer25
NM_020631.5:c.2945del	NP_065682.2:p.Lys982SerfsTer2
NM_001042663.3:c.3056del	NP_001036128.2:p.Lys1019SerfsTer2
NM_001265592.2:c.3056del	NP_001252521.2:p.Lys1019SerfsTer2
NM_020631.6:c.2945del MANE Select	NP_065682.2:p.Lys982SerfsTer2
NM_198681.4:c.2945del	NP_941374.3:p.Lys982SerfsTer2