Canonical Allele Identifier: CA2574194893

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2947726
• ClinVar RCV Id: RCV003804356

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470957_6470977del , CM000663.2:g.6470957_6470977del	GRCh38
NC_000001.10:g.6531017_6531037del , CM000663.1:g.6531017_6531037del	GRCh37
NC_000001.9:g.6453604_6453624del	NCBI36
NG_007978.1:g.54034_54054del , LRG_262:g.54034_54054del
NG_029910.1:g.220_240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1392+14_1392+34del	ENSP00000344570.5:n.1392+14_1392+34del
ENST00000377728.8:c.1392+14_1392+34del MANE Select	ENSP00000366957.3:n.1392+14_1392+34del
ENST00000377740.5:c.1392+14_1392+34del	ENSP00000366969.4:n.1392+14_1392+34del
ENST00000377748.6:c.1566+14_1566+34del	ENSP00000366977.2:n.1566+14_1566+34del
ENST00000400913.6:c.1392+14_1392+34del	ENSP00000383704.1:n.1392+14_1392+34del
ENST00000400915.8:c.1503+14_1503+34del	ENSP00000383706.4:n.1503+14_1503+34del
ENST00000489097.6:n.1868+14_1868+34del
ENST00000535355.6:c.1599+14_1599+34del	ENSP00000441445.1:n.1599+14_1599+34del
ENST00000537245.6:c.1503+14_1503+34del	ENSP00000439625.2:n.1503+14_1503+34del
ENST00000673471.2:c.1689+14_1689+34del	ENSP00000500749.1:n.1689+14_1689+34del
ENST00000674685.1:n.425+14_425+34del
ENST00000674790.1:c.*1604+14_*1604+34del	ENSP00000502815.1:n.*1604+14_*1604+34del
ENST00000675123.1:c.1392+14_1392+34del	ENSP00000502132.1:n.1392+14_1392+34del
ENST00000675548.1:c.*1220+14_*1220+34del	ENSP00000502684.1:n.*1220+14_*1220+34del
ENST00000675694.1:c.1392+14_1392+34del	ENSP00000501925.1:n.1392+14_1392+34del
ENST00000340850.9:c.1392+14_1392+34del	ENSP00000344570.5:n.1392+14_1392+34del
ENST00000377725.5:c.1392+14_1392+34del	ENSP00000366954.1:n.1392+14_1392+34del
ENST00000377728.7:c.1392+14_1392+34del	ENSP00000366957.3:n.1392+14_1392+34del
ENST00000377732.5:c.1503+14_1503+34del	ENSP00000366961.1:n.1503+14_1503+34del
ENST00000377740.4:c.1623+14_1623+34del	ENSP00000366969.3:n.1623+14_1623+34del
ENST00000377748.5:c.1623+14_1623+34del	ENSP00000366977.1:n.1623+14_1623+34del
ENST00000400913.5:c.1392+14_1392+34del	ENSP00000383704.1:n.1392+14_1392+34del
ENST00000400915.7:c.1560+14_1560+34del	ENSP00000383706.3:n.1560+14_1560+34del
ENST00000487949.4:n.594+14_594+34del
ENST00000489097.5:n.1868+14_1868+34del
ENST00000535355.5:c.1599+14_1599+34del	ENSP00000441445.1:n.1599+14_1599+34del
ENST00000537245.5:c.1629+14_1629+34del	ENSP00000439625.1:n.1629+14_1629+34del
NM_001042663.1:c.1560+14_1560+34del	NP_001036128.1:n.1560+14_1560+34del
NM_001042664.1:c.1392+14_1392+34del	NP_001036129.1:n.1392+14_1392+34del
NM_001042665.1:c.1392+14_1392+34del	NP_001036130.1:n.1392+14_1392+34del
NM_001265592.1:c.1629+14_1629+34del	NP_001252521.1:n.1629+14_1629+34del
NM_001265593.1:c.1599+14_1599+34del	NP_001252522.1:n.1599+14_1599+34del
NM_001265594.1:c.1392+14_1392+34del	NP_001252523.1:n.1392+14_1392+34del
NM_020631.4:c.1392+14_1392+34del	NP_065682.2:n.1392+14_1392+34del
NM_198681.3:c.1623+14_1623+34del	NP_941374.2:n.1623+14_1623+34del
NM_001042663.2:c.1560+14_1560+34del	NP_001036128.1:n.1560+14_1560+34del
NM_001265594.2:c.1392+14_1392+34del	NP_001252523.1:n.1392+14_1392+34del
NM_020631.5:c.1392+14_1392+34del	NP_065682.2:n.1392+14_1392+34del
NM_001042663.3:c.1503+14_1503+34del	NP_001036128.2:n.1503+14_1503+34del
NM_001265592.2:c.1503+14_1503+34del	NP_001252521.2:n.1503+14_1503+34del
NM_020631.6:c.1392+14_1392+34del MANE Select	NP_065682.2:n.1392+14_1392+34del
NM_198681.4:c.1392+14_1392+34del	NP_941374.3:n.1392+14_1392+34del