Canonical Allele Identifier: CA2642981399
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474903_6474921del , CM000663.2:g.6474903_6474921del GRCh38
NC_000001.10:g.6534963_6534981del , CM000663.1:g.6534963_6534981del GRCh37
NC_000001.9:g.6457550_6457568del NCBI36
NG_007978.1:g.50092_50110del , LRG_262:g.50092_50110del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.302+129_302+147del ENSP00000344570.5:n.302+129_302+147del
ENST00000377728.8:c.302+129_302+147del MANE Select ENSP00000366957.3:n.302+129_302+147del
ENST00000377740.5:c.302+129_302+147del ENSP00000366969.4:n.302+129_302+147del
ENST00000377748.6:c.476+129_476+147del ENSP00000366977.2:n.476+129_476+147del
ENST00000400913.6:c.302+129_302+147del ENSP00000383704.1:n.302+129_302+147del
ENST00000400915.8:c.413+129_413+147del ENSP00000383706.4:n.413+129_413+147del
ENST00000489097.6:n.448_466del
ENST00000535355.6:c.509+129_509+147del ENSP00000441445.1:n.509+129_509+147del
ENST00000537245.6:c.413+129_413+147del ENSP00000439625.2:n.413+129_413+147del
ENST00000673471.2:c.599+129_599+147del ENSP00000500749.1:n.599+129_599+147del
ENST00000674790.1:c.*514+129_*514+147del ENSP00000502815.1:n.*514+129_*514+147del
ENST00000675093.1:c.302+129_302+147del ENSP00000502687.1:n.302+129_302+147del
ENST00000675123.1:c.302+129_302+147del ENSP00000502132.1:n.302+129_302+147del
ENST00000675548.1:c.*130+129_*130+147del ENSP00000502684.1:n.*130+129_*130+147del
ENST00000675694.1:c.302+129_302+147del ENSP00000501925.1:n.302+129_302+147del
ENST00000676255.1:c.129-86_129-68del ENSP00000502459.1:n.129-86_129-68del
ENST00000676287.1:c.302+129_302+147del ENSP00000502810.1:n.302+129_302+147del
ENST00000340850.9:c.302+129_302+147del ENSP00000344570.5:n.302+129_302+147del
ENST00000377725.5:c.302+129_302+147del ENSP00000366954.1:n.302+129_302+147del
ENST00000377728.7:c.302+129_302+147del ENSP00000366957.3:n.302+129_302+147del
ENST00000377732.5:c.413+129_413+147del ENSP00000366961.1:n.413+129_413+147del
ENST00000377740.4:c.533+129_533+147del ENSP00000366969.3:n.533+129_533+147del
ENST00000377748.5:c.533+129_533+147del ENSP00000366977.1:n.533+129_533+147del
ENST00000400913.5:c.302+129_302+147del ENSP00000383704.1:n.302+129_302+147del
ENST00000400915.7:c.470+129_470+147del ENSP00000383706.3:n.470+129_470+147del
ENST00000489097.5:n.448_466del
ENST00000535355.5:c.509+129_509+147del ENSP00000441445.1:n.509+129_509+147del
ENST00000537245.5:c.539+129_539+147del ENSP00000439625.1:n.539+129_539+147del
NM_001042663.1:c.470+129_470+147del NP_001036128.1:n.470+129_470+147del
NM_001042664.1:c.302+129_302+147del NP_001036129.1:n.302+129_302+147del
NM_001042665.1:c.302+129_302+147del NP_001036130.1:n.302+129_302+147del
NM_001265592.1:c.539+129_539+147del NP_001252521.1:n.539+129_539+147del
NM_001265593.1:c.509+129_509+147del NP_001252522.1:n.509+129_509+147del
NM_001265594.1:c.302+129_302+147del NP_001252523.1:n.302+129_302+147del
NM_020631.4:c.302+129_302+147del NP_065682.2:n.302+129_302+147del
NM_198681.3:c.533+129_533+147del NP_941374.2:n.533+129_533+147del
NM_001042663.2:c.470+129_470+147del NP_001036128.1:n.470+129_470+147del
NM_001265594.2:c.302+129_302+147del NP_001252523.1:n.302+129_302+147del
NM_020631.5:c.302+129_302+147del NP_065682.2:n.302+129_302+147del
NM_001042663.3:c.413+129_413+147del NP_001036128.2:n.413+129_413+147del
NM_001265592.2:c.413+129_413+147del NP_001252521.2:n.413+129_413+147del
NM_020631.6:c.302+129_302+147del MANE Select NP_065682.2:n.302+129_302+147del
NM_198681.4:c.302+129_302+147del NP_941374.3:n.302+129_302+147del