Canonical Allele Identifier: CA658656872

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 468902
• ClinVar RCV Id: RCV000545231
• dbSNP Id: rs1553173388
• MyVariant Identifiers: chr1:g.6529194_6529195insTCT (hg19) ; chr1:g.6469134_6469135insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469136_6469137insTTC , CM000663.2:g.6469136_6469137insTTC	GRCh38
NC_000001.10:g.6529196_6529197insTTC , CM000663.1:g.6529196_6529197insTTC	GRCh37
NC_000001.9:g.6451783_6451784insTTC	NCBI36
NG_007978.1:g.55875_55876insAGA , LRG_262:g.55875_55876insAGA
NG_029910.1:g.2061_2062insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2156_2157insAGA	ENSP00000344570.5:p.Glu719_Glu720insGlu
ENST00000377728.8:c.2156_2157insAGA MANE Select	ENSP00000366957.3:p.Glu719_Glu720insGlu
ENST00000377740.5:c.2156_2157insAGA	ENSP00000366969.4:p.Glu719_Glu720insGlu
ENST00000377748.6:c.2330_2331insAGA	ENSP00000366977.2:p.Glu777_Glu778insGlu
ENST00000400913.6:c.2156_2157insAGA	ENSP00000383704.1:p.Glu719_Glu720insGlu
ENST00000400915.8:c.2267_2268insAGA	ENSP00000383706.4:p.Glu756_Glu757insGlu
ENST00000489097.6:n.2632_2633insAGA
ENST00000535355.6:c.2363_2364insAGA	ENSP00000441445.1:p.Glu788_Glu789insGlu
ENST00000537245.6:c.2267_2268insAGA	ENSP00000439625.2:p.Glu756_Glu757insGlu
ENST00000673471.2:c.2453_2454insAGA	ENSP00000500749.1:p.Glu818_Glu819insGlu
ENST00000674790.1:c.*2368_*2369insAGA	ENSP00000502815.1:n.*2368_*2369insAGA
ENST00000675123.1:c.2156_2157insAGA	ENSP00000502132.1:p.Glu719_Glu720insGlu
ENST00000675139.1:n.227_228insAGA
ENST00000675548.1:c.*1984_*1985insAGA	ENSP00000502684.1:n.*1984_*1985insAGA
ENST00000675694.1:c.2156_2157insAGA	ENSP00000501925.1:p.Glu719_Glu720insGlu
ENST00000675976.1:c.29_30insAGA	ENSP00000501611.1:p.Glu10_Glu11insGlu
ENST00000340850.9:c.2156_2157insAGA	ENSP00000344570.5:p.Glu719_Glu720insGlu
ENST00000377725.5:c.2156_2157insAGA	ENSP00000366954.1:p.Glu719_Glu720insGlu
ENST00000377728.7:c.2156_2157insAGA	ENSP00000366957.3:p.Glu719_Glu720insGlu
ENST00000377732.5:c.2267_2268insAGA	ENSP00000366961.1:p.Glu756_Glu757insGlu
ENST00000377740.4:c.2387_2388insAGA	ENSP00000366969.3:p.Glu796_Glu797insGlu
ENST00000377748.5:c.2387_2388insAGA	ENSP00000366977.1:p.Glu796_Glu797insGlu
ENST00000400913.5:c.2156_2157insAGA	ENSP00000383704.1:p.Glu719_Glu720insGlu
ENST00000400915.7:c.2324_2325insAGA	ENSP00000383706.3:p.Glu775_Glu776insGlu
ENST00000487949.4:n.1358_1359insAGA
ENST00000489097.5:n.2632_2633insAGA
ENST00000535355.5:c.2363_2364insAGA	ENSP00000441445.1:p.Glu788_Glu789insGlu
ENST00000537245.5:c.2393_2394insAGA	ENSP00000439625.1:p.Glu798_Glu799insGlu
NM_001042663.1:c.2324_2325insAGA	NP_001036128.1:p.Glu775_Glu776insGlu
NM_001042664.1:c.2156_2157insAGA	NP_001036129.1:p.Glu719_Glu720insGlu
NM_001042665.1:c.2156_2157insAGA	NP_001036130.1:p.Glu719_Glu720insGlu
NM_001265592.1:c.2393_2394insAGA	NP_001252521.1:p.Glu798_Glu799insGlu
NM_001265593.1:c.2363_2364insAGA	NP_001252522.1:p.Glu788_Glu789insGlu
NM_001265594.1:c.2156_2157insAGA	NP_001252523.1:p.Glu719_Glu720insGlu
NM_020631.4:c.2156_2157insAGA	NP_065682.2:p.Glu719_Glu720insGlu
NM_198681.3:c.2387_2388insAGA	NP_941374.2:p.Glu796_Glu797insGlu
NM_001042663.2:c.2324_2325insAGA	NP_001036128.1:p.Glu775_Glu776insGlu
NM_001265594.2:c.2156_2157insAGA	NP_001252523.1:p.Glu719_Glu720insGlu
NM_020631.5:c.2156_2157insAGA	NP_065682.2:p.Glu719_Glu720insGlu
NM_001042663.3:c.2267_2268insAGA	NP_001036128.2:p.Glu756_Glu757insGlu
NM_001265592.2:c.2267_2268insAGA	NP_001252521.2:p.Glu756_Glu757insGlu
NM_020631.6:c.2156_2157insAGA MANE Select	NP_065682.2:p.Glu719_Glu720insGlu
NM_198681.4:c.2156_2157insAGA	NP_941374.3:p.Glu719_Glu720insGlu