Canonical Allele Identifier: CA2642974795

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6468487-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468488_6468489del , CM000663.2:g.6468488_6468489del	GRCh38
NC_000001.10:g.6528548_6528549del , CM000663.1:g.6528548_6528549del	GRCh37
NC_000001.9:g.6451135_6451136del	NCBI36
NG_007978.1:g.56521_56522del , LRG_262:g.56521_56522del
NG_029910.1:g.2707_2708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2347_2348del	ENSP00000344570.5:p.Gln783ValfsTer2
ENST00000377728.8:c.2347_2348del MANE Select	ENSP00000366957.3:p.Gln783ValfsTer2
ENST00000377740.5:c.2347_2348del	ENSP00000366969.4:p.Gln783ValfsTer2
ENST00000377748.6:c.2521_2522del	ENSP00000366977.2:p.Gln841ValfsTer2
ENST00000400913.6:c.2347_2348del	ENSP00000383704.1:p.Gln783ValfsTer2
ENST00000400915.8:c.2458_2459del	ENSP00000383706.4:p.Gln820ValfsTer2
ENST00000489097.6:n.2823_2824del
ENST00000535355.6:c.2554_2555del	ENSP00000441445.1:p.Gln852ValfsTer2
ENST00000537245.6:c.2458_2459del	ENSP00000439625.2:p.Gln820ValfsTer2
ENST00000673471.2:c.2644_2645del	ENSP00000500749.1:p.Gln882ValfsTer2
ENST00000674790.1:c.*2559_*2560del	ENSP00000502815.1:n.*2559_*2560del
ENST00000675123.1:c.2249+553_2249+554del	ENSP00000502132.1:n.2249+553_2249+554del
ENST00000675548.1:c.*2175_*2176del	ENSP00000502684.1:n.*2175_*2176del
ENST00000675694.1:c.2347_2348del	ENSP00000501925.1:p.Gln783ValfsTer2
ENST00000675976.1:c.220_221del	ENSP00000501611.1:p.Gln74ValfsTer2
ENST00000340850.9:c.2347_2348del	ENSP00000344570.5:p.Gln783ValfsTer2
ENST00000377725.5:c.2347_2348del	ENSP00000366954.1:p.Gln783ValfsTer2
ENST00000377728.7:c.2347_2348del	ENSP00000366957.3:p.Gln783ValfsTer2
ENST00000377732.5:c.2458_2459del	ENSP00000366961.1:p.Gln820ValfsTer2
ENST00000377740.4:c.2480+553_2480+554del	ENSP00000366969.3:n.2480+553_2480+554del
ENST00000377748.5:c.2578_2579del	ENSP00000366977.1:p.Gln860ValfsTer2
ENST00000400913.5:c.2347_2348del	ENSP00000383704.1:p.Gln783ValfsTer2
ENST00000400915.7:c.2515_2516del	ENSP00000383706.3:p.Gln839ValfsTer2
ENST00000487949.4:n.1549_1550del
ENST00000489097.5:n.2823_2824del
ENST00000535355.5:c.2554_2555del	ENSP00000441445.1:p.Gln852ValfsTer2
ENST00000537245.5:c.2584_2585del	ENSP00000439625.1:p.Gln862ValfsTer2
NM_001042663.1:c.2515_2516del	NP_001036128.1:p.Gln839ValfsTer2
NM_001042664.1:c.2347_2348del	NP_001036129.1:p.Gln783ValfsTer2
NM_001042665.1:c.2347_2348del	NP_001036130.1:p.Gln783ValfsTer2
NM_001265592.1:c.2584_2585del	NP_001252521.1:p.Gln862ValfsTer2
NM_001265593.1:c.2554_2555del	NP_001252522.1:p.Gln852ValfsTer2
NM_001265594.1:c.2347_2348del	NP_001252523.1:p.Gln783ValfsTer2
NM_020631.4:c.2347_2348del	NP_065682.2:p.Gln783ValfsTer2
NM_198681.3:c.2578_2579del	NP_941374.2:p.Gln860ValfsTer2
NM_001042663.2:c.2515_2516del	NP_001036128.1:p.Gln839ValfsTer2
NM_001265594.2:c.2347_2348del	NP_001252523.1:p.Gln783ValfsTer2
NM_020631.5:c.2347_2348del	NP_065682.2:p.Gln783ValfsTer2
NM_001042663.3:c.2458_2459del	NP_001036128.2:p.Gln820ValfsTer2
NM_001265592.2:c.2458_2459del	NP_001252521.2:p.Gln820ValfsTer2
NM_020631.6:c.2347_2348del MANE Select	NP_065682.2:p.Gln783ValfsTer2
NM_198681.4:c.2347_2348del	NP_941374.3:p.Gln783ValfsTer2