Canonical Allele Identifier: CA1151520209

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644485729
• gnomAD v4: 1-6469120-CCTTCCTCCTCCTCCTCCTCCTCCTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469133_6469159del , CM000663.2:g.6469133_6469159del	GRCh38
NC_000001.10:g.6529193_6529219del , CM000663.1:g.6529193_6529219del	GRCh37
NC_000001.9:g.6451780_6451806del	NCBI36
NG_007978.1:g.55863_55889del , LRG_262:g.55863_55889del
NG_029910.1:g.2049_2075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2144_2170del	ENSP00000344570.5:p.Glu715_Glu723del
ENST00000377728.8:c.2144_2170del MANE Select	ENSP00000366957.3:p.Glu715_Glu723del
ENST00000377740.5:c.2144_2170del	ENSP00000366969.4:p.Glu715_Glu723del
ENST00000377748.6:c.2318_2344del	ENSP00000366977.2:p.Glu773_Glu781del
ENST00000400913.6:c.2144_2170del	ENSP00000383704.1:p.Glu715_Glu723del
ENST00000400915.8:c.2255_2281del	ENSP00000383706.4:p.Glu752_Glu760del
ENST00000489097.6:n.2620_2646del
ENST00000535355.6:c.2351_2377del	ENSP00000441445.1:p.Glu784_Glu792del
ENST00000537245.6:c.2255_2281del	ENSP00000439625.2:p.Glu752_Glu760del
ENST00000673471.2:c.2441_2467del	ENSP00000500749.1:p.Glu814_Glu822del
ENST00000674790.1:c.*2356_*2382del	ENSP00000502815.1:n.*2356_*2382del
ENST00000675123.1:c.2144_2170del	ENSP00000502132.1:p.Glu715_Glu723del
ENST00000675139.1:n.215_241del
ENST00000675548.1:c.*1972_*1998del	ENSP00000502684.1:n.*1972_*1998del
ENST00000675694.1:c.2144_2170del	ENSP00000501925.1:p.Glu715_Glu723del
ENST00000675976.1:c.17_43del	ENSP00000501611.1:p.Glu6_Glu14del
ENST00000340850.9:c.2144_2170del	ENSP00000344570.5:p.Glu715_Glu723del
ENST00000377725.5:c.2144_2170del	ENSP00000366954.1:p.Glu715_Glu723del
ENST00000377728.7:c.2144_2170del	ENSP00000366957.3:p.Glu715_Glu723del
ENST00000377732.5:c.2255_2281del	ENSP00000366961.1:p.Glu752_Glu760del
ENST00000377740.4:c.2375_2401del	ENSP00000366969.3:p.Glu792_Glu800del
ENST00000377748.5:c.2375_2401del	ENSP00000366977.1:p.Glu792_Glu800del
ENST00000400913.5:c.2144_2170del	ENSP00000383704.1:p.Glu715_Glu723del
ENST00000400915.7:c.2312_2338del	ENSP00000383706.3:p.Glu771_Glu779del
ENST00000487949.4:n.1346_1372del
ENST00000489097.5:n.2620_2646del
ENST00000535355.5:c.2351_2377del	ENSP00000441445.1:p.Glu784_Glu792del
ENST00000537245.5:c.2381_2407del	ENSP00000439625.1:p.Glu794_Glu802del
NM_001042663.1:c.2312_2338del	NP_001036128.1:p.Glu771_Glu779del
NM_001042664.1:c.2144_2170del	NP_001036129.1:p.Glu715_Glu723del
NM_001042665.1:c.2144_2170del	NP_001036130.1:p.Glu715_Glu723del
NM_001265592.1:c.2381_2407del	NP_001252521.1:p.Glu794_Glu802del
NM_001265593.1:c.2351_2377del	NP_001252522.1:p.Glu784_Glu792del
NM_001265594.1:c.2144_2170del	NP_001252523.1:p.Glu715_Glu723del
NM_020631.4:c.2144_2170del	NP_065682.2:p.Glu715_Glu723del
NM_198681.3:c.2375_2401del	NP_941374.2:p.Glu792_Glu800del
NM_001042663.2:c.2312_2338del	NP_001036128.1:p.Glu771_Glu779del
NM_001265594.2:c.2144_2170del	NP_001252523.1:p.Glu715_Glu723del
NM_020631.5:c.2144_2170del	NP_065682.2:p.Glu715_Glu723del
NM_001042663.3:c.2255_2281del	NP_001036128.2:p.Glu752_Glu760del
NM_001265592.2:c.2255_2281del	NP_001252521.2:p.Glu752_Glu760del
NM_020631.6:c.2144_2170del MANE Select	NP_065682.2:p.Glu715_Glu723del
NM_198681.4:c.2144_2170del	NP_941374.3:p.Glu715_Glu723del