Canonical Allele Identifier: CA17236701

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs866058503
• MyVariant Identifiers: chr1:g.6530633_6530645del (hg19) ; chr1:g.6470573_6470585del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470573_6470585del , CM000663.2:g.6470573_6470585del	GRCh38
NC_000001.10:g.6530633_6530645del , CM000663.1:g.6530633_6530645del	GRCh37
NC_000001.9:g.6453220_6453232del	NCBI36
NG_007978.1:g.54425_54437del , LRG_262:g.54425_54437del
NG_029910.1:g.611_623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1601_1613del	ENSP00000344570.5:p.Glu534GlyfsTer5
ENST00000377728.8:c.1601_1613del MANE Select	ENSP00000366957.3:p.Glu534GlyfsTer5
ENST00000377740.5:c.1601_1613del	ENSP00000366969.4:p.Glu534GlyfsTer5
ENST00000377748.6:c.1775_1787del	ENSP00000366977.2:p.Glu592GlyfsTer5
ENST00000400913.6:c.1601_1613del	ENSP00000383704.1:p.Glu534GlyfsTer5
ENST00000400915.8:c.1712_1724del	ENSP00000383706.4:p.Glu571GlyfsTer5
ENST00000489097.6:n.2077_2089del
ENST00000535355.6:c.1808_1820del	ENSP00000441445.1:p.Glu603GlyfsTer5
ENST00000537245.6:c.1712_1724del	ENSP00000439625.2:p.Glu571GlyfsTer5
ENST00000673471.2:c.1898_1910del	ENSP00000500749.1:p.Glu633GlyfsTer5
ENST00000674790.1:c.*1813_*1825del	ENSP00000502815.1:n.*1813_*1825del
ENST00000674943.1:n.263_275del
ENST00000675123.1:c.1601_1613del	ENSP00000502132.1:p.Glu534GlyfsTer5
ENST00000675548.1:c.*1429_*1441del	ENSP00000502684.1:n.*1429_*1441del
ENST00000675694.1:c.1601_1613del	ENSP00000501925.1:p.Glu534GlyfsTer5
ENST00000676401.1:n.148_160del
ENST00000340850.9:c.1601_1613del	ENSP00000344570.5:p.Glu534GlyfsTer5
ENST00000377725.5:c.1601_1613del	ENSP00000366954.1:p.Glu534GlyfsTer5
ENST00000377728.7:c.1601_1613del	ENSP00000366957.3:p.Glu534GlyfsTer5
ENST00000377732.5:c.1712_1724del	ENSP00000366961.1:p.Glu571GlyfsTer5
ENST00000377740.4:c.1832_1844del	ENSP00000366969.3:p.Glu611GlyfsTer5
ENST00000377748.5:c.1832_1844del	ENSP00000366977.1:p.Glu611GlyfsTer5
ENST00000400913.5:c.1601_1613del	ENSP00000383704.1:p.Glu534GlyfsTer5
ENST00000400915.7:c.1769_1781del	ENSP00000383706.3:p.Glu590GlyfsTer5
ENST00000487949.4:n.803_815del
ENST00000489097.5:n.2077_2089del
ENST00000535355.5:c.1808_1820del	ENSP00000441445.1:p.Glu603GlyfsTer5
ENST00000537245.5:c.1838_1850del	ENSP00000439625.1:p.Glu613GlyfsTer5
NM_001042663.1:c.1769_1781del	NP_001036128.1:p.Glu590GlyfsTer5
NM_001042664.1:c.1601_1613del	NP_001036129.1:p.Glu534GlyfsTer5
NM_001042665.1:c.1601_1613del	NP_001036130.1:p.Glu534GlyfsTer5
NM_001265592.1:c.1838_1850del	NP_001252521.1:p.Glu613GlyfsTer5
NM_001265593.1:c.1808_1820del	NP_001252522.1:p.Glu603GlyfsTer5
NM_001265594.1:c.1601_1613del	NP_001252523.1:p.Glu534GlyfsTer5
NM_020631.4:c.1601_1613del	NP_065682.2:p.Glu534GlyfsTer5
NM_198681.3:c.1832_1844del	NP_941374.2:p.Glu611GlyfsTer5
NM_001042663.2:c.1769_1781del	NP_001036128.1:p.Glu590GlyfsTer5
NM_001265594.2:c.1601_1613del	NP_001252523.1:p.Glu534GlyfsTer5
NM_020631.5:c.1601_1613del	NP_065682.2:p.Glu534GlyfsTer5
NM_001042663.3:c.1712_1724del	NP_001036128.2:p.Glu571GlyfsTer5
NM_001265592.2:c.1712_1724del	NP_001252521.2:p.Glu571GlyfsTer5
NM_020631.6:c.1601_1613del MANE Select	NP_065682.2:p.Glu534GlyfsTer5
NM_198681.4:c.1601_1613del	NP_941374.3:p.Glu534GlyfsTer5