Canonical Allele Identifier: CA737847491

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs113541584
• gnomAD v4: 1-6469122-T-TTCCTCCTCC
• MyVariant Identifiers: chr1:g.6529182_6529183insTCCTCCTCC (hg19) ; chr1:g.6469122_6469123insTCCTCCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469140_6469148dup , CM000663.2:g.6469140_6469148dup	GRCh38
NC_000001.10:g.6529200_6529208dup , CM000663.1:g.6529200_6529208dup	GRCh37
NC_000001.9:g.6451787_6451795dup	NCBI36
NG_007978.1:g.55879_55887dup , LRG_262:g.55879_55887dup
NG_029910.1:g.2065_2073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2160_2168dup	ENSP00000344570.5:p.Glu723_Gly724insGluGluGlu
ENST00000377728.8:c.2160_2168dup MANE Select	ENSP00000366957.3:p.Glu723_Gly724insGluGluGlu
ENST00000377740.5:c.2160_2168dup	ENSP00000366969.4:p.Glu723_Gly724insGluGluGlu
ENST00000377748.6:c.2334_2342dup	ENSP00000366977.2:p.Glu781_Gly782insGluGluGlu
ENST00000400913.6:c.2160_2168dup	ENSP00000383704.1:p.Glu723_Gly724insGluGluGlu
ENST00000400915.8:c.2271_2279dup	ENSP00000383706.4:p.Glu760_Gly761insGluGluGlu
ENST00000489097.6:n.2636_2644dup
ENST00000535355.6:c.2367_2375dup	ENSP00000441445.1:p.Glu792_Gly793insGluGluGlu
ENST00000537245.6:c.2271_2279dup	ENSP00000439625.2:p.Glu760_Gly761insGluGluGlu
ENST00000673471.2:c.2457_2465dup	ENSP00000500749.1:p.Glu822_Gly823insGluGluGlu
ENST00000674790.1:c.*2372_*2380dup	ENSP00000502815.1:n.*2372_*2380dup
ENST00000675123.1:c.2160_2168dup	ENSP00000502132.1:p.Glu723_Gly724insGluGluGlu
ENST00000675139.1:n.231_239dup
ENST00000675548.1:c.*1988_*1996dup	ENSP00000502684.1:n.*1988_*1996dup
ENST00000675694.1:c.2160_2168dup	ENSP00000501925.1:p.Glu723_Gly724insGluGluGlu
ENST00000675976.1:c.33_41dup	ENSP00000501611.1:p.Glu14_Gly15insGluGluGlu
ENST00000340850.9:c.2160_2168dup	ENSP00000344570.5:p.Glu723_Gly724insGluGluGlu
ENST00000377725.5:c.2160_2168dup	ENSP00000366954.1:p.Glu723_Gly724insGluGluGlu
ENST00000377728.7:c.2160_2168dup	ENSP00000366957.3:p.Glu723_Gly724insGluGluGlu
ENST00000377732.5:c.2271_2279dup	ENSP00000366961.1:p.Glu760_Gly761insGluGluGlu
ENST00000377740.4:c.2391_2399dup	ENSP00000366969.3:p.Glu800_Gly801insGluGluGlu
ENST00000377748.5:c.2391_2399dup	ENSP00000366977.1:p.Glu800_Gly801insGluGluGlu
ENST00000400913.5:c.2160_2168dup	ENSP00000383704.1:p.Glu723_Gly724insGluGluGlu
ENST00000400915.7:c.2328_2336dup	ENSP00000383706.3:p.Glu779_Gly780insGluGluGlu
ENST00000487949.4:n.1362_1370dup
ENST00000489097.5:n.2636_2644dup
ENST00000535355.5:c.2367_2375dup	ENSP00000441445.1:p.Glu792_Gly793insGluGluGlu
ENST00000537245.5:c.2397_2405dup	ENSP00000439625.1:p.Glu802_Gly803insGluGluGlu
NM_001042663.1:c.2328_2336dup	NP_001036128.1:p.Glu779_Gly780insGluGluGlu
NM_001042664.1:c.2160_2168dup	NP_001036129.1:p.Glu723_Gly724insGluGluGlu
NM_001042665.1:c.2160_2168dup	NP_001036130.1:p.Glu723_Gly724insGluGluGlu
NM_001265592.1:c.2397_2405dup	NP_001252521.1:p.Glu802_Gly803insGluGluGlu
NM_001265593.1:c.2367_2375dup	NP_001252522.1:p.Glu792_Gly793insGluGluGlu
NM_001265594.1:c.2160_2168dup	NP_001252523.1:p.Glu723_Gly724insGluGluGlu
NM_020631.4:c.2160_2168dup	NP_065682.2:p.Glu723_Gly724insGluGluGlu
NM_198681.3:c.2391_2399dup	NP_941374.2:p.Glu800_Gly801insGluGluGlu
NM_001042663.2:c.2328_2336dup	NP_001036128.1:p.Glu779_Gly780insGluGluGlu
NM_001265594.2:c.2160_2168dup	NP_001252523.1:p.Glu723_Gly724insGluGluGlu
NM_020631.5:c.2160_2168dup	NP_065682.2:p.Glu723_Gly724insGluGluGlu
NM_001042663.3:c.2271_2279dup	NP_001036128.2:p.Glu760_Gly761insGluGluGlu
NM_001265592.2:c.2271_2279dup	NP_001252521.2:p.Glu760_Gly761insGluGluGlu
NM_020631.6:c.2160_2168dup MANE Select	NP_065682.2:p.Glu723_Gly724insGluGluGlu
NM_198681.4:c.2160_2168dup	NP_941374.3:p.Glu723_Gly724insGluGluGlu