Canonical Allele Identifier: CA2586963996

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470561_6470586del , CM000663.2:g.6470561_6470586del	GRCh38
NC_000001.10:g.6530621_6530646del , CM000663.1:g.6530621_6530646del	GRCh37
NC_000001.9:g.6453208_6453233del	NCBI36
NG_007978.1:g.54428_54453del , LRG_262:g.54428_54453del
NG_029910.1:g.614_639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1604_1629del	ENSP00000344570.5:p.Arg535ProfsTer?
ENST00000377728.8:c.1604_1629del MANE Select	ENSP00000366957.3:p.Arg535ProfsTer?
ENST00000377740.5:c.1604_1629del	ENSP00000366969.4:p.Arg535ProfsTer?
ENST00000377748.6:c.1778_1803del	ENSP00000366977.2:p.Arg593ProfsTer?
ENST00000400913.6:c.1604_1629del	ENSP00000383704.1:p.Arg535ProfsTer?
ENST00000400915.8:c.1715_1740del	ENSP00000383706.4:p.Arg572ProfsTer?
ENST00000489097.6:n.2080_2105del
ENST00000535355.6:c.1811_1836del	ENSP00000441445.1:p.Arg604ProfsTer?
ENST00000537245.6:c.1715_1740del	ENSP00000439625.2:p.Arg572ProfsTer?
ENST00000673471.2:c.1901_1926del	ENSP00000500749.1:p.Arg634ProfsTer?
ENST00000674790.1:c.*1816_*1841del	ENSP00000502815.1:n.*1816_*1841del
ENST00000674943.1:n.266_291del
ENST00000675123.1:c.1604_1629del	ENSP00000502132.1:p.Arg535ProfsTer?
ENST00000675548.1:c.*1432_*1457del	ENSP00000502684.1:n.*1432_*1457del
ENST00000675694.1:c.1604_1629del	ENSP00000501925.1:p.Arg535ProfsTer?
ENST00000676401.1:n.151_176del
ENST00000340850.9:c.1604_1629del	ENSP00000344570.5:p.Arg535ProfsTer?
ENST00000377725.5:c.1604_1629del	ENSP00000366954.1:p.Arg535ProfsTer?
ENST00000377728.7:c.1604_1629del	ENSP00000366957.3:p.Arg535ProfsTer?
ENST00000377732.5:c.1715_1740del	ENSP00000366961.1:p.Arg572ProfsTer?
ENST00000377740.4:c.1835_1860del	ENSP00000366969.3:p.Arg612ProfsTer?
ENST00000377748.5:c.1835_1860del	ENSP00000366977.1:p.Arg612ProfsTer?
ENST00000400913.5:c.1604_1629del	ENSP00000383704.1:p.Arg535ProfsTer?
ENST00000400915.7:c.1772_1797del	ENSP00000383706.3:p.Arg591ProfsTer?
ENST00000487949.4:n.806_831del
ENST00000489097.5:n.2080_2105del
ENST00000535355.5:c.1811_1836del	ENSP00000441445.1:p.Arg604ProfsTer?
ENST00000537245.5:c.1841_1866del	ENSP00000439625.1:p.Arg614ProfsTer?
NM_001042663.1:c.1772_1797del	NP_001036128.1:p.Arg591ProfsTer?
NM_001042664.1:c.1604_1629del	NP_001036129.1:p.Arg535ProfsTer?
NM_001042665.1:c.1604_1629del	NP_001036130.1:p.Arg535ProfsTer?
NM_001265592.1:c.1841_1866del	NP_001252521.1:p.Arg614ProfsTer?
NM_001265593.1:c.1811_1836del	NP_001252522.1:p.Arg604ProfsTer?
NM_001265594.1:c.1604_1629del	NP_001252523.1:p.Arg535ProfsTer?
NM_020631.4:c.1604_1629del	NP_065682.2:p.Arg535ProfsTer?
NM_198681.3:c.1835_1860del	NP_941374.2:p.Arg612ProfsTer?
NM_001042663.2:c.1772_1797del	NP_001036128.1:p.Arg591ProfsTer?
NM_001265594.2:c.1604_1629del	NP_001252523.1:p.Arg535ProfsTer?
NM_020631.5:c.1604_1629del	NP_065682.2:p.Arg535ProfsTer?
NM_001042663.3:c.1715_1740del	NP_001036128.2:p.Arg572ProfsTer?
NM_001265592.2:c.1715_1740del	NP_001252521.2:p.Arg572ProfsTer?
NM_020631.6:c.1604_1629del MANE Select	NP_065682.2:p.Arg535ProfsTer?
NM_198681.4:c.1604_1629del	NP_941374.3:p.Arg535ProfsTer?