Canonical Allele Identifier: CA521018690

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1269911284
• gnomAD v2: 1-6529185-C-CTCT
• gnomAD v4: 1-6469125-C-CTCT
• MyVariant Identifiers: chr1:g.6529185_6529186insTCT (hg19) ; chr1:g.6469125_6469126insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469127_6469128insTTC , CM000663.2:g.6469127_6469128insTTC	GRCh38
NC_000001.10:g.6529187_6529188insTTC , CM000663.1:g.6529187_6529188insTTC	GRCh37
NC_000001.9:g.6451774_6451775insTTC	NCBI36
NG_007978.1:g.55884_55885insAGA , LRG_262:g.55884_55885insAGA
NG_029910.1:g.2070_2071insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2165_2166insAGA	ENSP00000344570.5:p.Glu722_Glu723insGlu
ENST00000377728.8:c.2165_2166insAGA MANE Select	ENSP00000366957.3:p.Glu722_Glu723insGlu
ENST00000377740.5:c.2165_2166insAGA	ENSP00000366969.4:p.Glu722_Glu723insGlu
ENST00000377748.6:c.2339_2340insAGA	ENSP00000366977.2:p.Glu780_Glu781insGlu
ENST00000400913.6:c.2165_2166insAGA	ENSP00000383704.1:p.Glu722_Glu723insGlu
ENST00000400915.8:c.2276_2277insAGA	ENSP00000383706.4:p.Glu759_Glu760insGlu
ENST00000489097.6:n.2641_2642insAGA
ENST00000535355.6:c.2372_2373insAGA	ENSP00000441445.1:p.Glu791_Glu792insGlu
ENST00000537245.6:c.2276_2277insAGA	ENSP00000439625.2:p.Glu759_Glu760insGlu
ENST00000673471.2:c.2462_2463insAGA	ENSP00000500749.1:p.Glu821_Glu822insGlu
ENST00000674790.1:c.*2377_*2378insAGA	ENSP00000502815.1:n.*2377_*2378insAGA
ENST00000675123.1:c.2165_2166insAGA	ENSP00000502132.1:p.Glu722_Glu723insGlu
ENST00000675139.1:n.236_237insAGA
ENST00000675548.1:c.*1993_*1994insAGA	ENSP00000502684.1:n.*1993_*1994insAGA
ENST00000675694.1:c.2165_2166insAGA	ENSP00000501925.1:p.Glu722_Glu723insGlu
ENST00000675976.1:c.38_39insAGA	ENSP00000501611.1:p.Glu13_Glu14insGlu
ENST00000340850.9:c.2165_2166insAGA	ENSP00000344570.5:p.Glu722_Glu723insGlu
ENST00000377725.5:c.2165_2166insAGA	ENSP00000366954.1:p.Glu722_Glu723insGlu
ENST00000377728.7:c.2165_2166insAGA	ENSP00000366957.3:p.Glu722_Glu723insGlu
ENST00000377732.5:c.2276_2277insAGA	ENSP00000366961.1:p.Glu759_Glu760insGlu
ENST00000377740.4:c.2396_2397insAGA	ENSP00000366969.3:p.Glu799_Glu800insGlu
ENST00000377748.5:c.2396_2397insAGA	ENSP00000366977.1:p.Glu799_Glu800insGlu
ENST00000400913.5:c.2165_2166insAGA	ENSP00000383704.1:p.Glu722_Glu723insGlu
ENST00000400915.7:c.2333_2334insAGA	ENSP00000383706.3:p.Glu778_Glu779insGlu
ENST00000487949.4:n.1367_1368insAGA
ENST00000489097.5:n.2641_2642insAGA
ENST00000535355.5:c.2372_2373insAGA	ENSP00000441445.1:p.Glu791_Glu792insGlu
ENST00000537245.5:c.2402_2403insAGA	ENSP00000439625.1:p.Glu801_Glu802insGlu
NM_001042663.1:c.2333_2334insAGA	NP_001036128.1:p.Glu778_Glu779insGlu
NM_001042664.1:c.2165_2166insAGA	NP_001036129.1:p.Glu722_Glu723insGlu
NM_001042665.1:c.2165_2166insAGA	NP_001036130.1:p.Glu722_Glu723insGlu
NM_001265592.1:c.2402_2403insAGA	NP_001252521.1:p.Glu801_Glu802insGlu
NM_001265593.1:c.2372_2373insAGA	NP_001252522.1:p.Glu791_Glu792insGlu
NM_001265594.1:c.2165_2166insAGA	NP_001252523.1:p.Glu722_Glu723insGlu
NM_020631.4:c.2165_2166insAGA	NP_065682.2:p.Glu722_Glu723insGlu
NM_198681.3:c.2396_2397insAGA	NP_941374.2:p.Glu799_Glu800insGlu
NM_001042663.2:c.2333_2334insAGA	NP_001036128.1:p.Glu778_Glu779insGlu
NM_001265594.2:c.2165_2166insAGA	NP_001252523.1:p.Glu722_Glu723insGlu
NM_020631.5:c.2165_2166insAGA	NP_065682.2:p.Glu722_Glu723insGlu
NM_001042663.3:c.2276_2277insAGA	NP_001036128.2:p.Glu759_Glu760insGlu
NM_001265592.2:c.2276_2277insAGA	NP_001252521.2:p.Glu759_Glu760insGlu
NM_020631.6:c.2165_2166insAGA MANE Select	NP_065682.2:p.Glu722_Glu723insGlu
NM_198681.4:c.2165_2166insAGA	NP_941374.3:p.Glu722_Glu723insGlu