Canonical Allele Identifier: CA17234799

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1376982
• ClinVar RCV Id: RCV001889797 ; RCV002425161
• dbSNP Id: rs960528373
• gnomAD v3: 1-6469120-C-CCTTCCT
• gnomAD v4: 1-6469120-C-CCTTCCT
• MyVariant Identifiers: chr1:g.6529180_6529181insCTTCCT (hg19) ; chr1:g.6469120_6469121insCTTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469122_6469127dup , CM000663.2:g.6469122_6469127dup	GRCh38
NC_000001.10:g.6529182_6529187dup , CM000663.1:g.6529182_6529187dup	GRCh37
NC_000001.9:g.6451769_6451774dup	NCBI36
NG_007978.1:g.55884_55889dup , LRG_262:g.55884_55889dup
NG_029910.1:g.2070_2075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2165_2170dup	ENSP00000344570.5:p.Glu723_Gly724insGluGlu
ENST00000377728.8:c.2165_2170dup MANE Select	ENSP00000366957.3:p.Glu723_Gly724insGluGlu
ENST00000377740.5:c.2165_2170dup	ENSP00000366969.4:p.Glu723_Gly724insGluGlu
ENST00000377748.6:c.2339_2344dup	ENSP00000366977.2:p.Glu781_Gly782insGluGlu
ENST00000400913.6:c.2165_2170dup	ENSP00000383704.1:p.Glu723_Gly724insGluGlu
ENST00000400915.8:c.2276_2281dup	ENSP00000383706.4:p.Glu760_Gly761insGluGlu
ENST00000489097.6:n.2641_2646dup
ENST00000535355.6:c.2372_2377dup	ENSP00000441445.1:p.Glu792_Gly793insGluGlu
ENST00000537245.6:c.2276_2281dup	ENSP00000439625.2:p.Glu760_Gly761insGluGlu
ENST00000673471.2:c.2462_2467dup	ENSP00000500749.1:p.Glu822_Gly823insGluGlu
ENST00000674790.1:c.*2377_*2382dup	ENSP00000502815.1:n.*2377_*2382dup
ENST00000675123.1:c.2165_2170dup	ENSP00000502132.1:p.Glu723_Gly724insGluGlu
ENST00000675139.1:n.236_241dup
ENST00000675548.1:c.*1993_*1998dup	ENSP00000502684.1:n.*1993_*1998dup
ENST00000675694.1:c.2165_2170dup	ENSP00000501925.1:p.Glu723_Gly724insGluGlu
ENST00000675976.1:c.38_43dup	ENSP00000501611.1:p.Glu14_Gly15insGluGlu
ENST00000340850.9:c.2165_2170dup	ENSP00000344570.5:p.Glu723_Gly724insGluGlu
ENST00000377725.5:c.2165_2170dup	ENSP00000366954.1:p.Glu723_Gly724insGluGlu
ENST00000377728.7:c.2165_2170dup	ENSP00000366957.3:p.Glu723_Gly724insGluGlu
ENST00000377732.5:c.2276_2281dup	ENSP00000366961.1:p.Glu760_Gly761insGluGlu
ENST00000377740.4:c.2396_2401dup	ENSP00000366969.3:p.Glu800_Gly801insGluGlu
ENST00000377748.5:c.2396_2401dup	ENSP00000366977.1:p.Glu800_Gly801insGluGlu
ENST00000400913.5:c.2165_2170dup	ENSP00000383704.1:p.Glu723_Gly724insGluGlu
ENST00000400915.7:c.2333_2338dup	ENSP00000383706.3:p.Glu779_Gly780insGluGlu
ENST00000487949.4:n.1367_1372dup
ENST00000489097.5:n.2641_2646dup
ENST00000535355.5:c.2372_2377dup	ENSP00000441445.1:p.Glu792_Gly793insGluGlu
ENST00000537245.5:c.2402_2407dup	ENSP00000439625.1:p.Glu802_Gly803insGluGlu
NM_001042663.1:c.2333_2338dup	NP_001036128.1:p.Glu779_Gly780insGluGlu
NM_001042664.1:c.2165_2170dup	NP_001036129.1:p.Glu723_Gly724insGluGlu
NM_001042665.1:c.2165_2170dup	NP_001036130.1:p.Glu723_Gly724insGluGlu
NM_001265592.1:c.2402_2407dup	NP_001252521.1:p.Glu802_Gly803insGluGlu
NM_001265593.1:c.2372_2377dup	NP_001252522.1:p.Glu792_Gly793insGluGlu
NM_001265594.1:c.2165_2170dup	NP_001252523.1:p.Glu723_Gly724insGluGlu
NM_020631.4:c.2165_2170dup	NP_065682.2:p.Glu723_Gly724insGluGlu
NM_198681.3:c.2396_2401dup	NP_941374.2:p.Glu800_Gly801insGluGlu
NM_001042663.2:c.2333_2338dup	NP_001036128.1:p.Glu779_Gly780insGluGlu
NM_001265594.2:c.2165_2170dup	NP_001252523.1:p.Glu723_Gly724insGluGlu
NM_020631.5:c.2165_2170dup	NP_065682.2:p.Glu723_Gly724insGluGlu
NM_001042663.3:c.2276_2281dup	NP_001036128.2:p.Glu760_Gly761insGluGlu
NM_001265592.2:c.2276_2281dup	NP_001252521.2:p.Glu760_Gly761insGluGlu
NM_020631.6:c.2165_2170dup MANE Select	NP_065682.2:p.Glu723_Gly724insGluGlu
NM_198681.4:c.2165_2170dup	NP_941374.3:p.Glu723_Gly724insGluGlu