Canonical Allele Identifier: CA2642975144

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6469129-TCCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469130_6469134del , CM000663.2:g.6469130_6469134del	GRCh38
NC_000001.10:g.6529190_6529194del , CM000663.1:g.6529190_6529194del	GRCh37
NC_000001.9:g.6451777_6451781del	NCBI36
NG_007978.1:g.55876_55880del , LRG_262:g.55876_55880del
NG_029910.1:g.2062_2066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2157_2161del	ENSP00000344570.5:p.Glu720GlyfsTer?
ENST00000377728.8:c.2157_2161del MANE Select	ENSP00000366957.3:p.Glu720GlyfsTer?
ENST00000377740.5:c.2157_2161del	ENSP00000366969.4:p.Glu720GlyfsTer?
ENST00000377748.6:c.2331_2335del	ENSP00000366977.2:p.Glu778GlyfsTer?
ENST00000400913.6:c.2157_2161del	ENSP00000383704.1:p.Glu720GlyfsTer?
ENST00000400915.8:c.2268_2272del	ENSP00000383706.4:p.Glu757GlyfsTer?
ENST00000489097.6:n.2633_2637del
ENST00000535355.6:c.2364_2368del	ENSP00000441445.1:p.Glu789GlyfsTer?
ENST00000537245.6:c.2268_2272del	ENSP00000439625.2:p.Glu757GlyfsTer?
ENST00000673471.2:c.2454_2458del	ENSP00000500749.1:p.Glu819GlyfsTer?
ENST00000674790.1:c.*2369_*2373del	ENSP00000502815.1:n.*2369_*2373del
ENST00000675123.1:c.2157_2161del	ENSP00000502132.1:p.Glu720GlyfsTer?
ENST00000675139.1:n.228_232del
ENST00000675548.1:c.*1985_*1989del	ENSP00000502684.1:n.*1985_*1989del
ENST00000675694.1:c.2157_2161del	ENSP00000501925.1:p.Glu720GlyfsTer?
ENST00000675976.1:c.30_34del	ENSP00000501611.1:p.Glu11GlyfsTer?
ENST00000340850.9:c.2157_2161del	ENSP00000344570.5:p.Glu720GlyfsTer?
ENST00000377725.5:c.2157_2161del	ENSP00000366954.1:p.Glu720GlyfsTer?
ENST00000377728.7:c.2157_2161del	ENSP00000366957.3:p.Glu720GlyfsTer?
ENST00000377732.5:c.2268_2272del	ENSP00000366961.1:p.Glu757GlyfsTer?
ENST00000377740.4:c.2388_2392del	ENSP00000366969.3:p.Glu797GlyfsTer?
ENST00000377748.5:c.2388_2392del	ENSP00000366977.1:p.Glu797GlyfsTer?
ENST00000400913.5:c.2157_2161del	ENSP00000383704.1:p.Glu720GlyfsTer?
ENST00000400915.7:c.2325_2329del	ENSP00000383706.3:p.Glu776GlyfsTer?
ENST00000487949.4:n.1359_1363del
ENST00000489097.5:n.2633_2637del
ENST00000535355.5:c.2364_2368del	ENSP00000441445.1:p.Glu789GlyfsTer?
ENST00000537245.5:c.2394_2398del	ENSP00000439625.1:p.Glu799GlyfsTer?
NM_001042663.1:c.2325_2329del	NP_001036128.1:p.Glu776GlyfsTer?
NM_001042664.1:c.2157_2161del	NP_001036129.1:p.Glu720GlyfsTer?
NM_001042665.1:c.2157_2161del	NP_001036130.1:p.Glu720GlyfsTer?
NM_001265592.1:c.2394_2398del	NP_001252521.1:p.Glu799GlyfsTer?
NM_001265593.1:c.2364_2368del	NP_001252522.1:p.Glu789GlyfsTer?
NM_001265594.1:c.2157_2161del	NP_001252523.1:p.Glu720GlyfsTer?
NM_020631.4:c.2157_2161del	NP_065682.2:p.Glu720GlyfsTer?
NM_198681.3:c.2388_2392del	NP_941374.2:p.Glu797GlyfsTer?
NM_001042663.2:c.2325_2329del	NP_001036128.1:p.Glu776GlyfsTer?
NM_001265594.2:c.2157_2161del	NP_001252523.1:p.Glu720GlyfsTer?
NM_020631.5:c.2157_2161del	NP_065682.2:p.Glu720GlyfsTer?
NM_001042663.3:c.2268_2272del	NP_001036128.2:p.Glu757GlyfsTer?
NM_001265592.2:c.2268_2272del	NP_001252521.2:p.Glu757GlyfsTer?
NM_020631.6:c.2157_2161del MANE Select	NP_065682.2:p.Glu720GlyfsTer?
NM_198681.4:c.2157_2161del	NP_941374.3:p.Glu720GlyfsTer?