Canonical Allele Identifier: CA2642977439

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474041-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474044dup , CM000663.2:g.6474044dup	GRCh38
NC_000001.10:g.6534104dup , CM000663.1:g.6534104dup	GRCh37
NC_000001.9:g.6456691dup	NCBI36
NG_007978.1:g.50968dup , LRG_262:g.50968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.562dup	ENSP00000344570.5:p.Gln188ProfsTer?
ENST00000377728.8:c.562dup MANE Select	ENSP00000366957.3:p.Gln188ProfsTer?
ENST00000377740.5:c.562dup	ENSP00000366969.4:p.Gln188ProfsTer?
ENST00000377748.6:c.736dup	ENSP00000366977.2:p.Gln246ProfsTer?
ENST00000400913.6:c.562dup	ENSP00000383704.1:p.Gln188ProfsTer?
ENST00000400915.8:c.673dup	ENSP00000383706.4:p.Gln225ProfsTer?
ENST00000489097.6:n.1038dup
ENST00000535355.6:c.769dup	ENSP00000441445.1:p.Gln257ProfsTer?
ENST00000537245.6:c.673dup	ENSP00000439625.2:p.Gln225ProfsTer?
ENST00000673471.2:c.859dup	ENSP00000500749.1:p.Gln287ProfsTer?
ENST00000674790.1:c.*774dup	ENSP00000502815.1:n.*774dup
ENST00000675123.1:c.562dup	ENSP00000502132.1:p.Gln188ProfsTer?
ENST00000675548.1:c.*390dup	ENSP00000502684.1:n.*390dup
ENST00000675694.1:c.562dup	ENSP00000501925.1:p.Gln188ProfsTer?
ENST00000340850.9:c.562dup	ENSP00000344570.5:p.Gln188ProfsTer?
ENST00000377725.5:c.562dup	ENSP00000366954.1:p.Gln188ProfsTer?
ENST00000377728.7:c.562dup	ENSP00000366957.3:p.Gln188ProfsTer?
ENST00000377732.5:c.673dup	ENSP00000366961.1:p.Gln225ProfsTer?
ENST00000377740.4:c.793dup	ENSP00000366969.3:p.Gln265ProfsTer?
ENST00000377748.5:c.793dup	ENSP00000366977.1:p.Gln265ProfsTer?
ENST00000400913.5:c.562dup	ENSP00000383704.1:p.Gln188ProfsTer?
ENST00000400915.7:c.730dup	ENSP00000383706.3:p.Gln244ProfsTer?
ENST00000489097.5:n.1038dup
ENST00000535355.5:c.769dup	ENSP00000441445.1:p.Gln257ProfsTer?
ENST00000537245.5:c.799dup	ENSP00000439625.1:p.Gln267ProfsTer?
NM_001042663.1:c.730dup	NP_001036128.1:p.Gln244ProfsTer?
NM_001042664.1:c.562dup	NP_001036129.1:p.Gln188ProfsTer?
NM_001042665.1:c.562dup	NP_001036130.1:p.Gln188ProfsTer?
NM_001265592.1:c.799dup	NP_001252521.1:p.Gln267ProfsTer?
NM_001265593.1:c.769dup	NP_001252522.1:p.Gln257ProfsTer?
NM_001265594.1:c.562dup	NP_001252523.1:p.Gln188ProfsTer?
NM_020631.4:c.562dup	NP_065682.2:p.Gln188ProfsTer?
NM_198681.3:c.793dup	NP_941374.2:p.Gln265ProfsTer?
NM_001042663.2:c.730dup	NP_001036128.1:p.Gln244ProfsTer?
NM_001265594.2:c.562dup	NP_001252523.1:p.Gln188ProfsTer?
NM_020631.5:c.562dup	NP_065682.2:p.Gln188ProfsTer?
NM_001042663.3:c.673dup	NP_001036128.2:p.Gln225ProfsTer?
NM_001265592.2:c.673dup	NP_001252521.2:p.Gln225ProfsTer?
NM_020631.6:c.562dup MANE Select	NP_065682.2:p.Gln188ProfsTer?
NM_198681.4:c.562dup	NP_941374.3:p.Gln188ProfsTer?