Canonical Allele Identifier: CA561247

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs759263875
• ExAC: 1:6529224 A / ATCCTCCTCC
• gnomAD v2: 1-6529224-A-ATCCTCCTCC
• gnomAD v4: 1-6469164-A-ATCCTCCTCC
• MyVariant Identifiers: chr1:g.6529224_6529225insTCCTCCTCC (hg19) ; chr1:g.6469164_6469165insTCCTCCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469167_6469175dup , CM000663.2:g.6469167_6469175dup	GRCh38
NC_000001.10:g.6529227_6529235dup , CM000663.1:g.6529227_6529235dup	GRCh37
NC_000001.9:g.6451814_6451822dup	NCBI36
NG_007978.1:g.55837_55845dup , LRG_262:g.55837_55845dup
NG_029910.1:g.2023_2031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2118_2126dup	ENSP00000344570.5:p.Glu708_Asp709insGluGluGlu
ENST00000377728.8:c.2118_2126dup MANE Select	ENSP00000366957.3:p.Glu708_Asp709insGluGluGlu
ENST00000377740.5:c.2118_2126dup	ENSP00000366969.4:p.Glu708_Asp709insGluGluGlu
ENST00000377748.6:c.2292_2300dup	ENSP00000366977.2:p.Glu766_Asp767insGluGluGlu
ENST00000400913.6:c.2118_2126dup	ENSP00000383704.1:p.Glu708_Asp709insGluGluGlu
ENST00000400915.8:c.2229_2237dup	ENSP00000383706.4:p.Glu745_Asp746insGluGluGlu
ENST00000489097.6:n.2594_2602dup
ENST00000535355.6:c.2325_2333dup	ENSP00000441445.1:p.Glu777_Asp778insGluGluGlu
ENST00000537245.6:c.2229_2237dup	ENSP00000439625.2:p.Glu745_Asp746insGluGluGlu
ENST00000673471.2:c.2415_2423dup	ENSP00000500749.1:p.Glu807_Asp808insGluGluGlu
ENST00000674790.1:c.*2330_*2338dup	ENSP00000502815.1:n.*2330_*2338dup
ENST00000675123.1:c.2118_2126dup	ENSP00000502132.1:p.Glu708_Asp709insGluGluGlu
ENST00000675139.1:n.189_197dup
ENST00000675548.1:c.*1946_*1954dup	ENSP00000502684.1:n.*1946_*1954dup
ENST00000675694.1:c.2118_2126dup	ENSP00000501925.1:p.Glu708_Asp709insGluGluGlu
ENST00000340850.9:c.2118_2126dup	ENSP00000344570.5:p.Glu708_Asp709insGluGluGlu
ENST00000377725.5:c.2118_2126dup	ENSP00000366954.1:p.Glu708_Asp709insGluGluGlu
ENST00000377728.7:c.2118_2126dup	ENSP00000366957.3:p.Glu708_Asp709insGluGluGlu
ENST00000377732.5:c.2229_2237dup	ENSP00000366961.1:p.Glu745_Asp746insGluGluGlu
ENST00000377740.4:c.2349_2357dup	ENSP00000366969.3:p.Glu785_Asp786insGluGluGlu
ENST00000377748.5:c.2349_2357dup	ENSP00000366977.1:p.Glu785_Asp786insGluGluGlu
ENST00000400913.5:c.2118_2126dup	ENSP00000383704.1:p.Glu708_Asp709insGluGluGlu
ENST00000400915.7:c.2286_2294dup	ENSP00000383706.3:p.Glu764_Asp765insGluGluGlu
ENST00000487949.4:n.1320_1328dup
ENST00000489097.5:n.2594_2602dup
ENST00000535355.5:c.2325_2333dup	ENSP00000441445.1:p.Glu777_Asp778insGluGluGlu
ENST00000537245.5:c.2355_2363dup	ENSP00000439625.1:p.Glu787_Asp788insGluGluGlu
NM_001042663.1:c.2286_2294dup	NP_001036128.1:p.Glu764_Asp765insGluGluGlu
NM_001042664.1:c.2118_2126dup	NP_001036129.1:p.Glu708_Asp709insGluGluGlu
NM_001042665.1:c.2118_2126dup	NP_001036130.1:p.Glu708_Asp709insGluGluGlu
NM_001265592.1:c.2355_2363dup	NP_001252521.1:p.Glu787_Asp788insGluGluGlu
NM_001265593.1:c.2325_2333dup	NP_001252522.1:p.Glu777_Asp778insGluGluGlu
NM_001265594.1:c.2118_2126dup	NP_001252523.1:p.Glu708_Asp709insGluGluGlu
NM_020631.4:c.2118_2126dup	NP_065682.2:p.Glu708_Asp709insGluGluGlu
NM_198681.3:c.2349_2357dup	NP_941374.2:p.Glu785_Asp786insGluGluGlu
NM_001042663.2:c.2286_2294dup	NP_001036128.1:p.Glu764_Asp765insGluGluGlu
NM_001265594.2:c.2118_2126dup	NP_001252523.1:p.Glu708_Asp709insGluGluGlu
NM_020631.5:c.2118_2126dup	NP_065682.2:p.Glu708_Asp709insGluGluGlu
NM_001042663.3:c.2229_2237dup	NP_001036128.2:p.Glu745_Asp746insGluGluGlu
NM_001265592.2:c.2229_2237dup	NP_001252521.2:p.Glu745_Asp746insGluGluGlu
NM_020631.6:c.2118_2126dup MANE Select	NP_065682.2:p.Glu708_Asp709insGluGluGlu
NM_198681.4:c.2118_2126dup	NP_941374.3:p.Glu708_Asp709insGluGluGlu