Canonical Allele Identifier: CA2580611390

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6471060_6471062del , CM000663.2:g.6471060_6471062del	GRCh38
NC_000001.10:g.6531120_6531122del , CM000663.1:g.6531120_6531122del	GRCh37
NC_000001.9:g.6453707_6453709del	NCBI36
NG_007978.1:g.53956_53958del , LRG_262:g.53956_53958del
NG_029910.1:g.142_144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1328_1330del	ENSP00000344570.5:p.Glu443del
ENST00000377728.8:c.1328_1330del MANE Select	ENSP00000366957.3:p.Glu443del
ENST00000377740.5:c.1328_1330del	ENSP00000366969.4:p.Glu443del
ENST00000377748.6:c.1502_1504del	ENSP00000366977.2:p.Glu501del
ENST00000400913.6:c.1328_1330del	ENSP00000383704.1:p.Glu443del
ENST00000400915.8:c.1439_1441del	ENSP00000383706.4:p.Glu480del
ENST00000489097.6:n.1804_1806del
ENST00000535355.6:c.1535_1537del	ENSP00000441445.1:p.Glu512del
ENST00000537245.6:c.1439_1441del	ENSP00000439625.2:p.Glu480del
ENST00000673471.2:c.1625_1627del	ENSP00000500749.1:p.Glu542del
ENST00000674685.1:n.361_363del
ENST00000674790.1:c.*1540_*1542del	ENSP00000502815.1:n.*1540_*1542del
ENST00000675123.1:c.1328_1330del	ENSP00000502132.1:p.Glu443del
ENST00000675548.1:c.*1156_*1158del	ENSP00000502684.1:n.*1156_*1158del
ENST00000675694.1:c.1328_1330del	ENSP00000501925.1:p.Glu443del
ENST00000340850.9:c.1328_1330del	ENSP00000344570.5:p.Glu443del
ENST00000377725.5:c.1328_1330del	ENSP00000366954.1:p.Glu443del
ENST00000377728.7:c.1328_1330del	ENSP00000366957.3:p.Glu443del
ENST00000377732.5:c.1439_1441del	ENSP00000366961.1:p.Glu480del
ENST00000377740.4:c.1559_1561del	ENSP00000366969.3:p.Glu520del
ENST00000377748.5:c.1559_1561del	ENSP00000366977.1:p.Glu520del
ENST00000400913.5:c.1328_1330del	ENSP00000383704.1:p.Glu443del
ENST00000400915.7:c.1496_1498del	ENSP00000383706.3:p.Glu499del
ENST00000487949.4:n.530_532del
ENST00000489097.5:n.1804_1806del
ENST00000535355.5:c.1535_1537del	ENSP00000441445.1:p.Glu512del
ENST00000537245.5:c.1565_1567del	ENSP00000439625.1:p.Glu522del
NM_001042663.1:c.1496_1498del	NP_001036128.1:p.Glu499del
NM_001042664.1:c.1328_1330del	NP_001036129.1:p.Glu443del
NM_001042665.1:c.1328_1330del	NP_001036130.1:p.Glu443del
NM_001265592.1:c.1565_1567del	NP_001252521.1:p.Glu522del
NM_001265593.1:c.1535_1537del	NP_001252522.1:p.Glu512del
NM_001265594.1:c.1328_1330del	NP_001252523.1:p.Glu443del
NM_020631.4:c.1328_1330del	NP_065682.2:p.Glu443del
NM_198681.3:c.1559_1561del	NP_941374.2:p.Glu520del
NM_001042663.2:c.1496_1498del	NP_001036128.1:p.Glu499del
NM_001265594.2:c.1328_1330del	NP_001252523.1:p.Glu443del
NM_020631.5:c.1328_1330del	NP_065682.2:p.Glu443del
NM_001042663.3:c.1439_1441del	NP_001036128.2:p.Glu480del
NM_001265592.2:c.1439_1441del	NP_001252521.2:p.Glu480del
NM_020631.6:c.1328_1330del MANE Select	NP_065682.2:p.Glu443del
NM_198681.4:c.1328_1330del	NP_941374.3:p.Glu443del