Canonical Allele Identifier: CA2642975243

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6469145-C-CTTCCTCCTCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469145_6469146insTTCCTCCTCCTG , CM000663.2:g.6469145_6469146insTTCCTCCTCCTG	GRCh38
NC_000001.10:g.6529205_6529206insTTCCTCCTCCTG , CM000663.1:g.6529205_6529206insTTCCTCCTCCTG	GRCh37
NC_000001.9:g.6451792_6451793insTTCCTCCTCCTG	NCBI36
NG_007978.1:g.55864_55865insCAGGAGGAGGAA , LRG_262:g.55864_55865insCAGGAGGAGGAA
NG_029910.1:g.2050_2051insCAGGAGGAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2145_2146insCAGGAGGAGGAA	ENSP00000344570.5:p.Glu715_Glu716insGlnGluGluGlu
ENST00000377728.8:c.2145_2146insCAGGAGGAGGAA MANE Select	ENSP00000366957.3:p.Glu715_Glu716insGlnGluGluGlu
ENST00000377740.5:c.2145_2146insCAGGAGGAGGAA	ENSP00000366969.4:p.Glu715_Glu716insGlnGluGluGlu
ENST00000377748.6:c.2319_2320insCAGGAGGAGGAA	ENSP00000366977.2:p.Glu773_Glu774insGlnGluGluGlu
ENST00000400913.6:c.2145_2146insCAGGAGGAGGAA	ENSP00000383704.1:p.Glu715_Glu716insGlnGluGluGlu
ENST00000400915.8:c.2256_2257insCAGGAGGAGGAA	ENSP00000383706.4:p.Glu752_Glu753insGlnGluGluGlu
ENST00000489097.6:n.2621_2622insCAGGAGGAGGAA
ENST00000535355.6:c.2352_2353insCAGGAGGAGGAA	ENSP00000441445.1:p.Glu784_Glu785insGlnGluGluGlu
ENST00000537245.6:c.2256_2257insCAGGAGGAGGAA	ENSP00000439625.2:p.Glu752_Glu753insGlnGluGluGlu
ENST00000673471.2:c.2442_2443insCAGGAGGAGGAA	ENSP00000500749.1:p.Glu814_Glu815insGlnGluGluGlu
ENST00000674790.1:c.*2357_*2358insCAGGAGGAGGAA	ENSP00000502815.1:n.*2357_*2358insCAGGAGGAGGAA
ENST00000675123.1:c.2145_2146insCAGGAGGAGGAA	ENSP00000502132.1:p.Glu715_Glu716insGlnGluGluGlu
ENST00000675139.1:n.216_217insCAGGAGGAGGAA
ENST00000675548.1:c.*1973_*1974insCAGGAGGAGGAA	ENSP00000502684.1:n.*1973_*1974insCAGGAGGAGGAA
ENST00000675694.1:c.2145_2146insCAGGAGGAGGAA	ENSP00000501925.1:p.Glu715_Glu716insGlnGluGluGlu
ENST00000675976.1:c.18_19insCAGGAGGAGGAA	ENSP00000501611.1:p.Glu6_Glu7insGlnGluGluGlu
ENST00000340850.9:c.2145_2146insCAGGAGGAGGAA	ENSP00000344570.5:p.Glu715_Glu716insGlnGluGluGlu
ENST00000377725.5:c.2145_2146insCAGGAGGAGGAA	ENSP00000366954.1:p.Glu715_Glu716insGlnGluGluGlu
ENST00000377728.7:c.2145_2146insCAGGAGGAGGAA	ENSP00000366957.3:p.Glu715_Glu716insGlnGluGluGlu
ENST00000377732.5:c.2256_2257insCAGGAGGAGGAA	ENSP00000366961.1:p.Glu752_Glu753insGlnGluGluGlu
ENST00000377740.4:c.2376_2377insCAGGAGGAGGAA	ENSP00000366969.3:p.Glu792_Glu793insGlnGluGluGlu
ENST00000377748.5:c.2376_2377insCAGGAGGAGGAA	ENSP00000366977.1:p.Glu792_Glu793insGlnGluGluGlu
ENST00000400913.5:c.2145_2146insCAGGAGGAGGAA	ENSP00000383704.1:p.Glu715_Glu716insGlnGluGluGlu
ENST00000400915.7:c.2313_2314insCAGGAGGAGGAA	ENSP00000383706.3:p.Glu771_Glu772insGlnGluGluGlu
ENST00000487949.4:n.1347_1348insCAGGAGGAGGAA
ENST00000489097.5:n.2621_2622insCAGGAGGAGGAA
ENST00000535355.5:c.2352_2353insCAGGAGGAGGAA	ENSP00000441445.1:p.Glu784_Glu785insGlnGluGluGlu
ENST00000537245.5:c.2382_2383insCAGGAGGAGGAA	ENSP00000439625.1:p.Glu794_Glu795insGlnGluGluGlu
NM_001042663.1:c.2313_2314insCAGGAGGAGGAA	NP_001036128.1:p.Glu771_Glu772insGlnGluGluGlu
NM_001042664.1:c.2145_2146insCAGGAGGAGGAA	NP_001036129.1:p.Glu715_Glu716insGlnGluGluGlu
NM_001042665.1:c.2145_2146insCAGGAGGAGGAA	NP_001036130.1:p.Glu715_Glu716insGlnGluGluGlu
NM_001265592.1:c.2382_2383insCAGGAGGAGGAA	NP_001252521.1:p.Glu794_Glu795insGlnGluGluGlu
NM_001265593.1:c.2352_2353insCAGGAGGAGGAA	NP_001252522.1:p.Glu784_Glu785insGlnGluGluGlu
NM_001265594.1:c.2145_2146insCAGGAGGAGGAA	NP_001252523.1:p.Glu715_Glu716insGlnGluGluGlu
NM_020631.4:c.2145_2146insCAGGAGGAGGAA	NP_065682.2:p.Glu715_Glu716insGlnGluGluGlu
NM_198681.3:c.2376_2377insCAGGAGGAGGAA	NP_941374.2:p.Glu792_Glu793insGlnGluGluGlu
NM_001042663.2:c.2313_2314insCAGGAGGAGGAA	NP_001036128.1:p.Glu771_Glu772insGlnGluGluGlu
NM_001265594.2:c.2145_2146insCAGGAGGAGGAA	NP_001252523.1:p.Glu715_Glu716insGlnGluGluGlu
NM_020631.5:c.2145_2146insCAGGAGGAGGAA	NP_065682.2:p.Glu715_Glu716insGlnGluGluGlu
NM_001042663.3:c.2256_2257insCAGGAGGAGGAA	NP_001036128.2:p.Glu752_Glu753insGlnGluGluGlu
NM_001265592.2:c.2256_2257insCAGGAGGAGGAA	NP_001252521.2:p.Glu752_Glu753insGlnGluGluGlu
NM_020631.6:c.2145_2146insCAGGAGGAGGAA MANE Select	NP_065682.2:p.Glu715_Glu716insGlnGluGluGlu
NM_198681.4:c.2145_2146insCAGGAGGAGGAA	NP_941374.3:p.Glu715_Glu716insGlnGluGluGlu