Canonical Allele Identifier: CA2642978429

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474458-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474459dup , CM000663.2:g.6474459dup	GRCh38
NC_000001.10:g.6534519dup , CM000663.1:g.6534519dup	GRCh37
NC_000001.9:g.6457106dup	NCBI36
NG_007978.1:g.50551dup , LRG_262:g.50551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.431dup	ENSP00000344570.5:p.Val145CysfsTer10
ENST00000377728.8:c.431dup MANE Select	ENSP00000366957.3:p.Val145CysfsTer10
ENST00000377740.5:c.431dup	ENSP00000366969.4:p.Val145CysfsTer10
ENST00000377748.6:c.605dup	ENSP00000366977.2:p.Val203CysfsTer10
ENST00000400913.6:c.431dup	ENSP00000383704.1:p.Val145CysfsTer10
ENST00000400915.8:c.542dup	ENSP00000383706.4:p.Val182CysfsTer10
ENST00000489097.6:n.907dup
ENST00000535355.6:c.638dup	ENSP00000441445.1:p.Val214CysfsTer10
ENST00000537245.6:c.542dup	ENSP00000439625.2:p.Val182CysfsTer10
ENST00000673471.2:c.728dup	ENSP00000500749.1:p.Val244CysfsTer10
ENST00000674790.1:c.*643dup	ENSP00000502815.1:n.*643dup
ENST00000675123.1:c.431dup	ENSP00000502132.1:p.Val145CysfsTer10
ENST00000675548.1:c.*259dup	ENSP00000502684.1:n.*259dup
ENST00000675694.1:c.431dup	ENSP00000501925.1:p.Val145CysfsTer10
ENST00000676255.1:c.393dup	ENSP00000502459.1:n.393dup
ENST00000340850.9:c.431dup	ENSP00000344570.5:p.Val145CysfsTer10
ENST00000377725.5:c.431dup	ENSP00000366954.1:p.Val145CysfsTer10
ENST00000377728.7:c.431dup	ENSP00000366957.3:p.Val145CysfsTer10
ENST00000377732.5:c.542dup	ENSP00000366961.1:p.Val182CysfsTer10
ENST00000377740.4:c.662dup	ENSP00000366969.3:p.Val222CysfsTer10
ENST00000377748.5:c.662dup	ENSP00000366977.1:p.Val222CysfsTer10
ENST00000400913.5:c.431dup	ENSP00000383704.1:p.Val145CysfsTer10
ENST00000400915.7:c.599dup	ENSP00000383706.3:p.Val201CysfsTer10
ENST00000489097.5:n.907dup
ENST00000535355.5:c.638dup	ENSP00000441445.1:p.Val214CysfsTer10
ENST00000537245.5:c.668dup	ENSP00000439625.1:p.Val224CysfsTer10
NM_001042663.1:c.599dup	NP_001036128.1:p.Val201CysfsTer10
NM_001042664.1:c.431dup	NP_001036129.1:p.Val145CysfsTer10
NM_001042665.1:c.431dup	NP_001036130.1:p.Val145CysfsTer10
NM_001265592.1:c.668dup	NP_001252521.1:p.Val224CysfsTer10
NM_001265593.1:c.638dup	NP_001252522.1:p.Val214CysfsTer10
NM_001265594.1:c.431dup	NP_001252523.1:p.Val145CysfsTer10
NM_020631.4:c.431dup	NP_065682.2:p.Val145CysfsTer10
NM_198681.3:c.662dup	NP_941374.2:p.Val222CysfsTer10
NM_001042663.2:c.599dup	NP_001036128.1:p.Val201CysfsTer10
NM_001265594.2:c.431dup	NP_001252523.1:p.Val145CysfsTer10
NM_020631.5:c.431dup	NP_065682.2:p.Val145CysfsTer10
NM_001042663.3:c.542dup	NP_001036128.2:p.Val182CysfsTer10
NM_001265592.2:c.542dup	NP_001252521.2:p.Val182CysfsTer10
NM_020631.6:c.431dup MANE Select	NP_065682.2:p.Val145CysfsTer10
NM_198681.4:c.431dup	NP_941374.3:p.Val145CysfsTer10