Canonical Allele Identifier: CA1151505909
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474087_6474088delinsGC , CM000663.2:g.6474087_6474088delinsGC GRCh38
NC_000001.10:g.6534147_6534148delinsGC , CM000663.1:g.6534147_6534148delinsGC GRCh37
NC_000001.9:g.6456734_6456735delinsGC NCBI36
NG_007978.1:g.50922_50923delinsGC , LRG_262:g.50922_50923delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.516_517delinsGC ENSP00000344570.5:p.Leu172=
ENST00000377728.8:c.516_517delinsGC MANE Select ENSP00000366957.3:p.Leu172=
ENST00000377740.5:c.516_517delinsGC ENSP00000366969.4:p.Leu172=
ENST00000377748.6:c.690_691delinsGC ENSP00000366977.2:p.Leu230=
ENST00000400913.6:c.516_517delinsGC ENSP00000383704.1:p.Leu172=
ENST00000400915.8:c.627_628delinsGC ENSP00000383706.4:p.Leu209=
ENST00000489097.6:n.992_993delinsGC
ENST00000535355.6:c.723_724delinsGC ENSP00000441445.1:p.Leu241=
ENST00000537245.6:c.627_628delinsGC ENSP00000439625.2:p.Leu209=
ENST00000673471.2:c.813_814delinsGC ENSP00000500749.1:p.Leu271=
ENST00000674790.1:c.*728_*729delinsGC ENSP00000502815.1:n.*728_*729delinsGC
ENST00000675123.1:c.516_517delinsGC ENSP00000502132.1:p.Leu172=
ENST00000675548.1:c.*344_*345delinsGC ENSP00000502684.1:n.*344_*345delinsGC
ENST00000675694.1:c.516_517delinsGC ENSP00000501925.1:p.Leu172=
ENST00000340850.9:c.516_517delinsGC ENSP00000344570.5:p.Leu172=
ENST00000377725.5:c.516_517delinsGC ENSP00000366954.1:p.Leu172=
ENST00000377728.7:c.516_517delinsGC ENSP00000366957.3:p.Leu172=
ENST00000377732.5:c.627_628delinsGC ENSP00000366961.1:p.Leu209=
ENST00000377740.4:c.747_748delinsGC ENSP00000366969.3:p.Leu249=
ENST00000377748.5:c.747_748delinsGC ENSP00000366977.1:p.Leu249=
ENST00000400913.5:c.516_517delinsGC ENSP00000383704.1:p.Leu172=
ENST00000400915.7:c.684_685delinsGC ENSP00000383706.3:p.Leu228=
ENST00000489097.5:n.992_993delinsGC
ENST00000535355.5:c.723_724delinsGC ENSP00000441445.1:p.Leu241=
ENST00000537245.5:c.753_754delinsGC ENSP00000439625.1:p.Leu251=
NM_001042663.1:c.684_685delinsGC NP_001036128.1:p.Leu228=
NM_001042664.1:c.516_517delinsGC NP_001036129.1:p.Leu172=
NM_001042665.1:c.516_517delinsGC NP_001036130.1:p.Leu172=
NM_001265592.1:c.753_754delinsGC NP_001252521.1:p.Leu251=
NM_001265593.1:c.723_724delinsGC NP_001252522.1:p.Leu241=
NM_001265594.1:c.516_517delinsGC NP_001252523.1:p.Leu172=
NM_020631.4:c.516_517delinsGC NP_065682.2:p.Leu172=
NM_198681.3:c.747_748delinsGC NP_941374.2:p.Leu249=
NM_001042663.2:c.684_685delinsGC NP_001036128.1:p.Leu228=
NM_001265594.2:c.516_517delinsGC NP_001252523.1:p.Leu172=
NM_020631.5:c.516_517delinsGC NP_065682.2:p.Leu172=
NM_001042663.3:c.627_628delinsGC NP_001036128.2:p.Leu209=
NM_001265592.2:c.627_628delinsGC NP_001252521.2:p.Leu209=
NM_020631.6:c.516_517delinsGC MANE Select NP_065682.2:p.Leu172=
NM_198681.4:c.516_517delinsGC NP_941374.3:p.Leu172=