Canonical Allele Identifier: CA2580611386

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1786279
• ClinVar RCV Id: RCV002417656
• dbSNP Id: rs759263875
• gnomAD v4: 1-6469164-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469173_6469175del , CM000663.2:g.6469173_6469175del	GRCh38
NC_000001.10:g.6529233_6529235del , CM000663.1:g.6529233_6529235del	GRCh37
NC_000001.9:g.6451820_6451822del	NCBI36
NG_007978.1:g.55843_55845del , LRG_262:g.55843_55845del
NG_029910.1:g.2029_2031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2124_2126del	ENSP00000344570.5:p.Glu708del
ENST00000377728.8:c.2124_2126del MANE Select	ENSP00000366957.3:p.Glu708del
ENST00000377740.5:c.2124_2126del	ENSP00000366969.4:p.Glu708del
ENST00000377748.6:c.2298_2300del	ENSP00000366977.2:p.Glu766del
ENST00000400913.6:c.2124_2126del	ENSP00000383704.1:p.Glu708del
ENST00000400915.8:c.2235_2237del	ENSP00000383706.4:p.Glu745del
ENST00000489097.6:n.2600_2602del
ENST00000535355.6:c.2331_2333del	ENSP00000441445.1:p.Glu777del
ENST00000537245.6:c.2235_2237del	ENSP00000439625.2:p.Glu745del
ENST00000673471.2:c.2421_2423del	ENSP00000500749.1:p.Glu807del
ENST00000674790.1:c.*2336_*2338del	ENSP00000502815.1:n.*2336_*2338del
ENST00000675123.1:c.2124_2126del	ENSP00000502132.1:p.Glu708del
ENST00000675139.1:n.195_197del
ENST00000675548.1:c.*1952_*1954del	ENSP00000502684.1:n.*1952_*1954del
ENST00000675694.1:c.2124_2126del	ENSP00000501925.1:p.Glu708del
ENST00000340850.9:c.2124_2126del	ENSP00000344570.5:p.Glu708del
ENST00000377725.5:c.2124_2126del	ENSP00000366954.1:p.Glu708del
ENST00000377728.7:c.2124_2126del	ENSP00000366957.3:p.Glu708del
ENST00000377732.5:c.2235_2237del	ENSP00000366961.1:p.Glu745del
ENST00000377740.4:c.2355_2357del	ENSP00000366969.3:p.Glu785del
ENST00000377748.5:c.2355_2357del	ENSP00000366977.1:p.Glu785del
ENST00000400913.5:c.2124_2126del	ENSP00000383704.1:p.Glu708del
ENST00000400915.7:c.2292_2294del	ENSP00000383706.3:p.Glu764del
ENST00000487949.4:n.1326_1328del
ENST00000489097.5:n.2600_2602del
ENST00000535355.5:c.2331_2333del	ENSP00000441445.1:p.Glu777del
ENST00000537245.5:c.2361_2363del	ENSP00000439625.1:p.Glu787del
NM_001042663.1:c.2292_2294del	NP_001036128.1:p.Glu764del
NM_001042664.1:c.2124_2126del	NP_001036129.1:p.Glu708del
NM_001042665.1:c.2124_2126del	NP_001036130.1:p.Glu708del
NM_001265592.1:c.2361_2363del	NP_001252521.1:p.Glu787del
NM_001265593.1:c.2331_2333del	NP_001252522.1:p.Glu777del
NM_001265594.1:c.2124_2126del	NP_001252523.1:p.Glu708del
NM_020631.4:c.2124_2126del	NP_065682.2:p.Glu708del
NM_198681.3:c.2355_2357del	NP_941374.2:p.Glu785del
NM_001042663.2:c.2292_2294del	NP_001036128.1:p.Glu764del
NM_001265594.2:c.2124_2126del	NP_001252523.1:p.Glu708del
NM_020631.5:c.2124_2126del	NP_065682.2:p.Glu708del
NM_001042663.3:c.2235_2237del	NP_001036128.2:p.Glu745del
NM_001265592.2:c.2235_2237del	NP_001252521.2:p.Glu745del
NM_020631.6:c.2124_2126del MANE Select	NP_065682.2:p.Glu708del
NM_198681.4:c.2124_2126del	NP_941374.3:p.Glu708del