Canonical Allele Identifier: CA561253

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs752377572
• ExAC: 1:6529241 G / GTCCTCCT
• gnomAD v2: 1-6529241-G-GTCCTCCT
• MyVariant Identifiers: chr1:g.6529241_6529242insTCCTCCT (hg19) ; chr1:g.6469181_6469182insTCCTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469181_6469182insTCCTCCT , CM000663.2:g.6469181_6469182insTCCTCCT	GRCh38
NC_000001.10:g.6529241_6529242insTCCTCCT , CM000663.1:g.6529241_6529242insTCCTCCT	GRCh37
NC_000001.9:g.6451828_6451829insTCCTCCT	NCBI36
NG_007978.1:g.55828_55829insAGGAGGA , LRG_262:g.55828_55829insAGGAGGA
NG_029910.1:g.2014_2015insAGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2109_2110insAGGAGGA	ENSP00000344570.5:p.Leu704ArgfsTer9
ENST00000377728.8:c.2109_2110insAGGAGGA MANE Select	ENSP00000366957.3:p.Leu704ArgfsTer9
ENST00000377740.5:c.2109_2110insAGGAGGA	ENSP00000366969.4:p.Leu704ArgfsTer9
ENST00000377748.6:c.2283_2284insAGGAGGA	ENSP00000366977.2:p.Leu762ArgfsTer9
ENST00000400913.6:c.2109_2110insAGGAGGA	ENSP00000383704.1:p.Leu704ArgfsTer9
ENST00000400915.8:c.2220_2221insAGGAGGA	ENSP00000383706.4:p.Leu741ArgfsTer9
ENST00000489097.6:n.2585_2586insAGGAGGA
ENST00000535355.6:c.2316_2317insAGGAGGA	ENSP00000441445.1:p.Leu773ArgfsTer9
ENST00000537245.6:c.2220_2221insAGGAGGA	ENSP00000439625.2:p.Leu741ArgfsTer9
ENST00000673471.2:c.2406_2407insAGGAGGA	ENSP00000500749.1:p.Leu803ArgfsTer9
ENST00000674790.1:c.*2321_*2322insAGGAGGA	ENSP00000502815.1:n.*2321_*2322insAGGAGGA
ENST00000675123.1:c.2109_2110insAGGAGGA	ENSP00000502132.1:p.Leu704ArgfsTer9
ENST00000675139.1:n.180_181insAGGAGGA
ENST00000675548.1:c.*1937_*1938insAGGAGGA	ENSP00000502684.1:n.*1937_*1938insAGGAGGA
ENST00000675694.1:c.2109_2110insAGGAGGA	ENSP00000501925.1:p.Leu704ArgfsTer9
ENST00000340850.9:c.2109_2110insAGGAGGA	ENSP00000344570.5:p.Leu704ArgfsTer9
ENST00000377725.5:c.2109_2110insAGGAGGA	ENSP00000366954.1:p.Leu704ArgfsTer9
ENST00000377728.7:c.2109_2110insAGGAGGA	ENSP00000366957.3:p.Leu704ArgfsTer9
ENST00000377732.5:c.2220_2221insAGGAGGA	ENSP00000366961.1:p.Leu741ArgfsTer9
ENST00000377740.4:c.2340_2341insAGGAGGA	ENSP00000366969.3:p.Leu781ArgfsTer9
ENST00000377748.5:c.2340_2341insAGGAGGA	ENSP00000366977.1:p.Leu781ArgfsTer9
ENST00000400913.5:c.2109_2110insAGGAGGA	ENSP00000383704.1:p.Leu704ArgfsTer9
ENST00000400915.7:c.2277_2278insAGGAGGA	ENSP00000383706.3:p.Leu760ArgfsTer9
ENST00000487949.4:n.1311_1312insAGGAGGA
ENST00000489097.5:n.2585_2586insAGGAGGA
ENST00000535355.5:c.2316_2317insAGGAGGA	ENSP00000441445.1:p.Leu773ArgfsTer9
ENST00000537245.5:c.2346_2347insAGGAGGA	ENSP00000439625.1:p.Leu783ArgfsTer9
NM_001042663.1:c.2277_2278insAGGAGGA	NP_001036128.1:p.Leu760ArgfsTer9
NM_001042664.1:c.2109_2110insAGGAGGA	NP_001036129.1:p.Leu704ArgfsTer9
NM_001042665.1:c.2109_2110insAGGAGGA	NP_001036130.1:p.Leu704ArgfsTer9
NM_001265592.1:c.2346_2347insAGGAGGA	NP_001252521.1:p.Leu783ArgfsTer9
NM_001265593.1:c.2316_2317insAGGAGGA	NP_001252522.1:p.Leu773ArgfsTer9
NM_001265594.1:c.2109_2110insAGGAGGA	NP_001252523.1:p.Leu704ArgfsTer9
NM_020631.4:c.2109_2110insAGGAGGA	NP_065682.2:p.Leu704ArgfsTer9
NM_198681.3:c.2340_2341insAGGAGGA	NP_941374.2:p.Leu781ArgfsTer9
NM_001042663.2:c.2277_2278insAGGAGGA	NP_001036128.1:p.Leu760ArgfsTer9
NM_001265594.2:c.2109_2110insAGGAGGA	NP_001252523.1:p.Leu704ArgfsTer9
NM_020631.5:c.2109_2110insAGGAGGA	NP_065682.2:p.Leu704ArgfsTer9
NM_001042663.3:c.2220_2221insAGGAGGA	NP_001036128.2:p.Leu741ArgfsTer9
NM_001265592.2:c.2220_2221insAGGAGGA	NP_001252521.2:p.Leu741ArgfsTer9
NM_020631.6:c.2109_2110insAGGAGGA MANE Select	NP_065682.2:p.Leu704ArgfsTer9
NM_198681.4:c.2109_2110insAGGAGGA	NP_941374.3:p.Leu704ArgfsTer9