Canonical Allele Identifier: CA2642975213
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6469142_6469143insTTCCTCCTCCTGCTCATCCTCCTCCTCTTC , CM000663.2:g.6469142_6469143insTTCCTCCTCCTGCTCATCCTCCTCCTCTTC GRCh38
NC_000001.10:g.6529202_6529203insTTCCTCCTCCTGCTCATCCTCCTCCTCTTC , CM000663.1:g.6529202_6529203insTTCCTCCTCCTGCTCATCCTCCTCCTCTTC GRCh37
NC_000001.9:g.6451789_6451790insTTCCTCCTCCTGCTCATCCTCCTCCTCTTC NCBI36
NG_007978.1:g.55869_55870insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA , LRG_262:g.55869_55870insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
NG_029910.1:g.2055_2056insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000344570.5:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000377728.8:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA MANE Select ENSP00000366957.3:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000377740.5:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000366969.4:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000377748.6:c.2324_2325insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000366977.2:p.Glu775_Glu776insGluGluGluAspGluGlnGluGluG...
ENST00000400913.6:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000383704.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000400915.8:c.2261_2262insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000383706.4:p.Glu754_Glu755insGluGluGluAspGluGlnGluGluG...
ENST00000489097.6:n.2626_2627insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
ENST00000535355.6:c.2357_2358insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000441445.1:p.Glu786_Glu787insGluGluGluAspGluGlnGluGluG...
ENST00000537245.6:c.2261_2262insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000439625.2:p.Glu754_Glu755insGluGluGluAspGluGlnGluGluG...
ENST00000673471.2:c.2447_2448insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000500749.1:p.Glu816_Glu817insGluGluGluAspGluGlnGluGluG...
ENST00000674790.1:c.*2362_*2363insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000502815.1:n.*2362_*2363insAGAGGAGGAGGATGAGCAGGAGGAGGA...
ENST00000675123.1:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000502132.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000675139.1:n.221_222insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
ENST00000675548.1:c.*1978_*1979insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000502684.1:n.*1978_*1979insAGAGGAGGAGGATGAGCAGGAGGAGGA...
ENST00000675694.1:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000501925.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000675976.1:c.23_24insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000501611.1:p.Glu8_Glu9insGluGluGluAspGluGlnGluGluGluGl...
ENST00000340850.9:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000344570.5:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000377725.5:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000366954.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000377728.7:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000366957.3:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000377732.5:c.2261_2262insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000366961.1:p.Glu754_Glu755insGluGluGluAspGluGlnGluGluG...
ENST00000377740.4:c.2381_2382insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000366969.3:p.Glu794_Glu795insGluGluGluAspGluGlnGluGluG...
ENST00000377748.5:c.2381_2382insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000366977.1:p.Glu794_Glu795insGluGluGluAspGluGlnGluGluG...
ENST00000400913.5:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000383704.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluG...
ENST00000400915.7:c.2318_2319insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000383706.3:p.Glu773_Glu774insGluGluGluAspGluGlnGluGluG...
ENST00000487949.4:n.1352_1353insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
ENST00000489097.5:n.2626_2627insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA
ENST00000535355.5:c.2357_2358insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000441445.1:p.Glu786_Glu787insGluGluGluAspGluGlnGluGluG...
ENST00000537245.5:c.2387_2388insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA ENSP00000439625.1:p.Glu796_Glu797insGluGluGluAspGluGlnGluGluG...
NM_001042663.1:c.2318_2319insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001036128.1:p.Glu773_Glu774insGluGluGluAspGluGlnGluGluGluG...
NM_001042664.1:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001036129.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluG...
NM_001042665.1:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001036130.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluG...
NM_001265592.1:c.2387_2388insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001252521.1:p.Glu796_Glu797insGluGluGluAspGluGlnGluGluGluG...
NM_001265593.1:c.2357_2358insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001252522.1:p.Glu786_Glu787insGluGluGluAspGluGlnGluGluGluG...
NM_001265594.1:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001252523.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluG...
NM_020631.4:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_065682.2:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluGlu
NM_198681.3:c.2381_2382insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_941374.2:p.Glu794_Glu795insGluGluGluAspGluGlnGluGluGluGlu
NM_001042663.2:c.2318_2319insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001036128.1:p.Glu773_Glu774insGluGluGluAspGluGlnGluGluGluG...
NM_001265594.2:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001252523.1:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluG...
NM_020631.5:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_065682.2:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluGlu
NM_001042663.3:c.2261_2262insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001036128.2:p.Glu754_Glu755insGluGluGluAspGluGlnGluGluGluG...
NM_001265592.2:c.2261_2262insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_001252521.2:p.Glu754_Glu755insGluGluGluAspGluGlnGluGluGluG...
NM_020631.6:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA MANE Select NP_065682.2:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluGlu
NM_198681.4:c.2150_2151insAGAGGAGGAGGATGAGCAGGAGGAGGAAGA NP_941374.3:p.Glu717_Glu718insGluGluGluAspGluGlnGluGluGluGlu