Canonical Allele Identifier: CA2642974595

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6468191-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468193del , CM000663.2:g.6468193del	GRCh38
NC_000001.10:g.6528253del , CM000663.1:g.6528253del	GRCh37
NC_000001.9:g.6450840del	NCBI36
NG_007978.1:g.56818del , LRG_262:g.56818del
NG_029910.1:g.3004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2644del	ENSP00000344570.5:p.Leu882SerfsTer?
ENST00000377728.8:c.2644del MANE Select	ENSP00000366957.3:p.Leu882SerfsTer?
ENST00000377740.5:c.2644del	ENSP00000366969.4:p.Leu882SerfsTer?
ENST00000377748.6:c.2818del	ENSP00000366977.2:p.Leu940SerfsTer?
ENST00000400913.6:c.2644del	ENSP00000383704.1:p.Leu882SerfsTer?
ENST00000400915.8:c.2755del	ENSP00000383706.4:p.Leu919SerfsTer?
ENST00000489097.6:n.3120del
ENST00000535355.6:c.2851del	ENSP00000441445.1:p.Leu951SerfsTer?
ENST00000537245.6:c.2755del	ENSP00000439625.2:p.Leu919SerfsTer?
ENST00000673471.2:c.2941del	ENSP00000500749.1:p.Leu981SerfsTer?
ENST00000674790.1:c.*2856del	ENSP00000502815.1:n.*2856del
ENST00000675123.1:c.2250-299del	ENSP00000502132.1:n.2250-299del
ENST00000675548.1:c.*2472del	ENSP00000502684.1:n.*2472del
ENST00000675694.1:c.2644del	ENSP00000501925.1:p.Leu882SerfsTer?
ENST00000675976.1:c.517del	ENSP00000501611.1:p.Leu173SerfsTer?
ENST00000340850.9:c.2644del	ENSP00000344570.5:p.Leu882SerfsTer?
ENST00000377725.5:c.2644del	ENSP00000366954.1:p.Leu882SerfsTer?
ENST00000377728.7:c.2644del	ENSP00000366957.3:p.Leu882SerfsTer?
ENST00000377732.5:c.2755del	ENSP00000366961.1:p.Leu919SerfsTer?
ENST00000377740.4:c.2481-299del	ENSP00000366969.3:n.2481-299del
ENST00000377748.5:c.2875del	ENSP00000366977.1:p.Leu959SerfsTer?
ENST00000400913.5:c.2644del	ENSP00000383704.1:p.Leu882SerfsTer?
ENST00000400915.7:c.2812del	ENSP00000383706.3:p.Leu938SerfsTer?
ENST00000487949.4:n.1846del
ENST00000489097.5:n.3120del
ENST00000535355.5:c.2851del	ENSP00000441445.1:p.Leu951SerfsTer?
ENST00000537245.5:c.2881del	ENSP00000439625.1:p.Leu961SerfsTer?
NM_001042663.1:c.2812del	NP_001036128.1:p.Leu938SerfsTer?
NM_001042664.1:c.2644del	NP_001036129.1:p.Leu882SerfsTer?
NM_001042665.1:c.2644del	NP_001036130.1:p.Leu882SerfsTer?
NM_001265592.1:c.2881del	NP_001252521.1:p.Leu961SerfsTer?
NM_001265593.1:c.2851del	NP_001252522.1:p.Leu951SerfsTer?
NM_001265594.1:c.2644del	NP_001252523.1:p.Leu882SerfsTer?
NM_020631.4:c.2644del	NP_065682.2:p.Leu882SerfsTer?
NM_198681.3:c.2875del	NP_941374.2:p.Leu959SerfsTer?
NM_001042663.2:c.2812del	NP_001036128.1:p.Leu938SerfsTer?
NM_001265594.2:c.2644del	NP_001252523.1:p.Leu882SerfsTer?
NM_020631.5:c.2644del	NP_065682.2:p.Leu882SerfsTer?
NM_001042663.3:c.2755del	NP_001036128.2:p.Leu919SerfsTer?
NM_001265592.2:c.2755del	NP_001252521.2:p.Leu919SerfsTer?
NM_020631.6:c.2644del MANE Select	NP_065682.2:p.Leu882SerfsTer?
NM_198681.4:c.2644del	NP_941374.3:p.Leu882SerfsTer?