Canonical Allele Identifier: CA915941107

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 663141
• ClinVar RCV Id: RCV000820951
• dbSNP Id: rs1569875704

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474064_6474154del , CM000663.2:g.6474064_6474154del	GRCh38
NC_000001.10:g.6534124_6534214del , CM000663.1:g.6534124_6534214del	GRCh37
NC_000001.9:g.6456711_6456801del	NCBI36
NG_007978.1:g.50859_50949del , LRG_262:g.50859_50949del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.453_543del	ENSP00000344570.5:p.Gly152TrpfsTer?
ENST00000377728.8:c.453_543del MANE Select	ENSP00000366957.3:p.Gly152TrpfsTer?
ENST00000377740.5:c.453_543del	ENSP00000366969.4:p.Gly152TrpfsTer?
ENST00000377748.6:c.627_717del	ENSP00000366977.2:p.Gly210TrpfsTer?
ENST00000400913.6:c.453_543del	ENSP00000383704.1:p.Gly152TrpfsTer?
ENST00000400915.8:c.564_654del	ENSP00000383706.4:p.Gly189TrpfsTer?
ENST00000489097.6:n.929_1019del
ENST00000535355.6:c.660_750del	ENSP00000441445.1:p.Gly221TrpfsTer?
ENST00000537245.6:c.564_654del	ENSP00000439625.2:p.Gly189TrpfsTer?
ENST00000673471.2:c.750_840del	ENSP00000500749.1:p.Gly251TrpfsTer?
ENST00000674790.1:c.*665_*755del	ENSP00000502815.1:n.*665_*755del
ENST00000675123.1:c.453_543del	ENSP00000502132.1:p.Gly152TrpfsTer?
ENST00000675548.1:c.*281_*371del	ENSP00000502684.1:n.*281_*371del
ENST00000675694.1:c.453_543del	ENSP00000501925.1:p.Gly152TrpfsTer?
ENST00000340850.9:c.453_543del	ENSP00000344570.5:p.Gly152TrpfsTer?
ENST00000377725.5:c.453_543del	ENSP00000366954.1:p.Gly152TrpfsTer?
ENST00000377728.7:c.453_543del	ENSP00000366957.3:p.Gly152TrpfsTer?
ENST00000377732.5:c.564_654del	ENSP00000366961.1:p.Gly189TrpfsTer?
ENST00000377740.4:c.684_774del	ENSP00000366969.3:p.Gly229TrpfsTer?
ENST00000377748.5:c.684_774del	ENSP00000366977.1:p.Gly229TrpfsTer?
ENST00000400913.5:c.453_543del	ENSP00000383704.1:p.Gly152TrpfsTer?
ENST00000400915.7:c.621_711del	ENSP00000383706.3:p.Gly208TrpfsTer?
ENST00000489097.5:n.929_1019del
ENST00000535355.5:c.660_750del	ENSP00000441445.1:p.Gly221TrpfsTer?
ENST00000537245.5:c.690_780del	ENSP00000439625.1:p.Gly231TrpfsTer?
NM_001042663.1:c.621_711del	NP_001036128.1:p.Gly208TrpfsTer?
NM_001042664.1:c.453_543del	NP_001036129.1:p.Gly152TrpfsTer?
NM_001042665.1:c.453_543del	NP_001036130.1:p.Gly152TrpfsTer?
NM_001265592.1:c.690_780del	NP_001252521.1:p.Gly231TrpfsTer?
NM_001265593.1:c.660_750del	NP_001252522.1:p.Gly221TrpfsTer?
NM_001265594.1:c.453_543del	NP_001252523.1:p.Gly152TrpfsTer?
NM_020631.4:c.453_543del	NP_065682.2:p.Gly152TrpfsTer?
NM_198681.3:c.684_774del	NP_941374.2:p.Gly229TrpfsTer?
NM_001042663.2:c.621_711del	NP_001036128.1:p.Gly208TrpfsTer?
NM_001265594.2:c.453_543del	NP_001252523.1:p.Gly152TrpfsTer?
NM_020631.5:c.453_543del	NP_065682.2:p.Gly152TrpfsTer?
NM_001042663.3:c.564_654del	NP_001036128.2:p.Gly189TrpfsTer?
NM_001265592.2:c.564_654del	NP_001252521.2:p.Gly189TrpfsTer?
NM_020631.6:c.453_543del MANE Select	NP_065682.2:p.Gly152TrpfsTer?
NM_198681.4:c.453_543del	NP_941374.3:p.Gly152TrpfsTer?