Canonical Allele Identifier: CA17236709

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs993350766
• gnomAD v3: 1-6470577-GCTGCCGCTC-G
• gnomAD v4: 1-6470577-GCTGCCGCTC-G
• MyVariant Identifiers: chr1:g.6530638_6530646del (hg19) ; chr1:g.6470578_6470586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470586_6470594del , CM000663.2:g.6470586_6470594del	GRCh38
NC_000001.10:g.6530646_6530654del , CM000663.1:g.6530646_6530654del	GRCh37
NC_000001.9:g.6453233_6453241del	NCBI36
NG_007978.1:g.54424_54432del , LRG_262:g.54424_54432del
NG_029910.1:g.610_618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1600_1608del	ENSP00000344570.5:p.Glu534_Gln536del
ENST00000377728.8:c.1600_1608del MANE Select	ENSP00000366957.3:p.Glu534_Gln536del
ENST00000377740.5:c.1600_1608del	ENSP00000366969.4:p.Glu534_Gln536del
ENST00000377748.6:c.1774_1782del	ENSP00000366977.2:p.Glu592_Gln594del
ENST00000400913.6:c.1600_1608del	ENSP00000383704.1:p.Glu534_Gln536del
ENST00000400915.8:c.1711_1719del	ENSP00000383706.4:p.Glu571_Gln573del
ENST00000489097.6:n.2076_2084del
ENST00000535355.6:c.1807_1815del	ENSP00000441445.1:p.Glu603_Gln605del
ENST00000537245.6:c.1711_1719del	ENSP00000439625.2:p.Glu571_Gln573del
ENST00000673471.2:c.1897_1905del	ENSP00000500749.1:p.Glu633_Gln635del
ENST00000674790.1:c.*1812_*1820del	ENSP00000502815.1:n.*1812_*1820del
ENST00000674943.1:n.262_270del
ENST00000675123.1:c.1600_1608del	ENSP00000502132.1:p.Glu534_Gln536del
ENST00000675548.1:c.*1428_*1436del	ENSP00000502684.1:n.*1428_*1436del
ENST00000675694.1:c.1600_1608del	ENSP00000501925.1:p.Glu534_Gln536del
ENST00000676401.1:n.147_155del
ENST00000340850.9:c.1600_1608del	ENSP00000344570.5:p.Glu534_Gln536del
ENST00000377725.5:c.1600_1608del	ENSP00000366954.1:p.Glu534_Gln536del
ENST00000377728.7:c.1600_1608del	ENSP00000366957.3:p.Glu534_Gln536del
ENST00000377732.5:c.1711_1719del	ENSP00000366961.1:p.Glu571_Gln573del
ENST00000377740.4:c.1831_1839del	ENSP00000366969.3:p.Glu611_Gln613del
ENST00000377748.5:c.1831_1839del	ENSP00000366977.1:p.Glu611_Gln613del
ENST00000400913.5:c.1600_1608del	ENSP00000383704.1:p.Glu534_Gln536del
ENST00000400915.7:c.1768_1776del	ENSP00000383706.3:p.Glu590_Gln592del
ENST00000487949.4:n.802_810del
ENST00000489097.5:n.2076_2084del
ENST00000535355.5:c.1807_1815del	ENSP00000441445.1:p.Glu603_Gln605del
ENST00000537245.5:c.1837_1845del	ENSP00000439625.1:p.Glu613_Gln615del
NM_001042663.1:c.1768_1776del	NP_001036128.1:p.Glu590_Gln592del
NM_001042664.1:c.1600_1608del	NP_001036129.1:p.Glu534_Gln536del
NM_001042665.1:c.1600_1608del	NP_001036130.1:p.Glu534_Gln536del
NM_001265592.1:c.1837_1845del	NP_001252521.1:p.Glu613_Gln615del
NM_001265593.1:c.1807_1815del	NP_001252522.1:p.Glu603_Gln605del
NM_001265594.1:c.1600_1608del	NP_001252523.1:p.Glu534_Gln536del
NM_020631.4:c.1600_1608del	NP_065682.2:p.Glu534_Gln536del
NM_198681.3:c.1831_1839del	NP_941374.2:p.Glu611_Gln613del
NM_001042663.2:c.1768_1776del	NP_001036128.1:p.Glu590_Gln592del
NM_001265594.2:c.1600_1608del	NP_001252523.1:p.Glu534_Gln536del
NM_020631.5:c.1600_1608del	NP_065682.2:p.Glu534_Gln536del
NM_001042663.3:c.1711_1719del	NP_001036128.2:p.Glu571_Gln573del
NM_001265592.2:c.1711_1719del	NP_001252521.2:p.Glu571_Gln573del
NM_020631.6:c.1600_1608del MANE Select	NP_065682.2:p.Glu534_Gln536del
NM_198681.4:c.1600_1608del	NP_941374.3:p.Glu534_Gln536del