Canonical Allele Identifier: CA561171
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 284266
dbSNP Id: rs753593088
gnomAD v2: 1-6528518-G-GC
gnomAD v4: 1-6468458-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6468459dup , CM000663.2:g.6468459dup GRCh38
NC_000001.10:g.6528519dup , CM000663.1:g.6528519dup GRCh37
NC_000001.9:g.6451106dup NCBI36
NG_007978.1:g.56551dup , LRG_262:g.56551dup
NG_029910.1:g.2737dup

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.2377dup ENSP00000344570.5:p.Ala793GlyfsTer9
ENST00000377728.8:c.2377dup MANE Select ENSP00000366957.3:p.Ala793GlyfsTer9
ENST00000377740.5:c.2377dup ENSP00000366969.4:p.Ala793GlyfsTer9
ENST00000377748.6:c.2551dup ENSP00000366977.2:p.Ala851GlyfsTer9
ENST00000400913.6:c.2377dup ENSP00000383704.1:p.Ala793GlyfsTer9
ENST00000400915.8:c.2488dup ENSP00000383706.4:p.Ala830GlyfsTer9
ENST00000489097.6:n.2853dup
ENST00000535355.6:c.2584dup ENSP00000441445.1:p.Ala862GlyfsTer9
ENST00000537245.6:c.2488dup ENSP00000439625.2:p.Ala830GlyfsTer9
ENST00000673471.2:c.2674dup ENSP00000500749.1:p.Ala892GlyfsTer9
ENST00000674790.1:c.*2589dup ENSP00000502815.1:n.*2589dup
ENST00000675123.1:c.2250-566dup ENSP00000502132.1:n.2250-566dup
ENST00000675548.1:c.*2205dup ENSP00000502684.1:n.*2205dup
ENST00000675694.1:c.2377dup ENSP00000501925.1:p.Ala793GlyfsTer9
ENST00000675976.1:c.250dup ENSP00000501611.1:p.Ala84GlyfsTer9
ENST00000340850.9:c.2377dup ENSP00000344570.5:p.Ala793GlyfsTer9
ENST00000377725.5:c.2377dup ENSP00000366954.1:p.Ala793GlyfsTer9
ENST00000377728.7:c.2377dup ENSP00000366957.3:p.Ala793GlyfsTer9
ENST00000377732.5:c.2488dup ENSP00000366961.1:p.Ala830GlyfsTer9
ENST00000377740.4:c.2481-566dup ENSP00000366969.3:n.2481-566dup
ENST00000377748.5:c.2608dup ENSP00000366977.1:p.Ala870GlyfsTer9
ENST00000400913.5:c.2377dup ENSP00000383704.1:p.Ala793GlyfsTer9
ENST00000400915.7:c.2545dup ENSP00000383706.3:p.Ala849GlyfsTer9
ENST00000487949.4:n.1579dup
ENST00000489097.5:n.2853dup
ENST00000535355.5:c.2584dup ENSP00000441445.1:p.Ala862GlyfsTer9
ENST00000537245.5:c.2614dup ENSP00000439625.1:p.Ala872GlyfsTer9
NM_001042663.1:c.2545dup NP_001036128.1:p.Ala849GlyfsTer9
NM_001042664.1:c.2377dup NP_001036129.1:p.Ala793GlyfsTer9
NM_001042665.1:c.2377dup NP_001036130.1:p.Ala793GlyfsTer9
NM_001265592.1:c.2614dup NP_001252521.1:p.Ala872GlyfsTer9
NM_001265593.1:c.2584dup NP_001252522.1:p.Ala862GlyfsTer9
NM_001265594.1:c.2377dup NP_001252523.1:p.Ala793GlyfsTer9
NM_020631.4:c.2377dup NP_065682.2:p.Ala793GlyfsTer9
NM_198681.3:c.2608dup NP_941374.2:p.Ala870GlyfsTer9
NM_001042663.2:c.2545dup NP_001036128.1:p.Ala849GlyfsTer9
NM_001265594.2:c.2377dup NP_001252523.1:p.Ala793GlyfsTer9
NM_020631.5:c.2377dup NP_065682.2:p.Ala793GlyfsTer9
NM_001042663.3:c.2488dup NP_001036128.2:p.Ala830GlyfsTer9
NM_001265592.2:c.2488dup NP_001252521.2:p.Ala830GlyfsTer9
NM_020631.6:c.2377dup MANE Select NP_065682.2:p.Ala793GlyfsTer9
NM_198681.4:c.2377dup NP_941374.3:p.Ala793GlyfsTer9