Canonical Allele Identifier: CA2573132145

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1416561
• ClinVar RCV Id: RCV001935762
• dbSNP Id: rs2148591365

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474504del , CM000663.2:g.6474504del	GRCh38
NC_000001.10:g.6534564del , CM000663.1:g.6534564del	GRCh37
NC_000001.9:g.6457151del	NCBI36
NG_007978.1:g.50506del , LRG_262:g.50506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.386del	ENSP00000344570.5:p.Leu129ArgfsTer?
ENST00000377728.8:c.386del MANE Select	ENSP00000366957.3:p.Leu129ArgfsTer?
ENST00000377740.5:c.386del	ENSP00000366969.4:p.Leu129ArgfsTer?
ENST00000377748.6:c.560del	ENSP00000366977.2:p.Leu187ArgfsTer?
ENST00000400913.6:c.386del	ENSP00000383704.1:p.Leu129ArgfsTer?
ENST00000400915.8:c.497del	ENSP00000383706.4:p.Leu166ArgfsTer?
ENST00000489097.6:n.862del
ENST00000535355.6:c.593del	ENSP00000441445.1:p.Leu198ArgfsTer?
ENST00000537245.6:c.497del	ENSP00000439625.2:p.Leu166ArgfsTer?
ENST00000673471.2:c.683del	ENSP00000500749.1:p.Leu228ArgfsTer?
ENST00000674790.1:c.*598del	ENSP00000502815.1:n.*598del
ENST00000675123.1:c.386del	ENSP00000502132.1:p.Leu129ArgfsTer?
ENST00000675548.1:c.*214del	ENSP00000502684.1:n.*214del
ENST00000675694.1:c.386del	ENSP00000501925.1:p.Leu129ArgfsTer?
ENST00000676255.1:c.348del	ENSP00000502459.1:n.348del
ENST00000340850.9:c.386del	ENSP00000344570.5:p.Leu129ArgfsTer?
ENST00000377725.5:c.386del	ENSP00000366954.1:p.Leu129ArgfsTer?
ENST00000377728.7:c.386del	ENSP00000366957.3:p.Leu129ArgfsTer?
ENST00000377732.5:c.497del	ENSP00000366961.1:p.Leu166ArgfsTer?
ENST00000377740.4:c.617del	ENSP00000366969.3:p.Leu206ArgfsTer?
ENST00000377748.5:c.617del	ENSP00000366977.1:p.Leu206ArgfsTer?
ENST00000400913.5:c.386del	ENSP00000383704.1:p.Leu129ArgfsTer?
ENST00000400915.7:c.554del	ENSP00000383706.3:p.Leu185ArgfsTer?
ENST00000489097.5:n.862del
ENST00000535355.5:c.593del	ENSP00000441445.1:p.Leu198ArgfsTer?
ENST00000537245.5:c.623del	ENSP00000439625.1:p.Leu208ArgfsTer?
NM_001042663.1:c.554del	NP_001036128.1:p.Leu185ArgfsTer?
NM_001042664.1:c.386del	NP_001036129.1:p.Leu129ArgfsTer?
NM_001042665.1:c.386del	NP_001036130.1:p.Leu129ArgfsTer?
NM_001265592.1:c.623del	NP_001252521.1:p.Leu208ArgfsTer?
NM_001265593.1:c.593del	NP_001252522.1:p.Leu198ArgfsTer?
NM_001265594.1:c.386del	NP_001252523.1:p.Leu129ArgfsTer?
NM_020631.4:c.386del	NP_065682.2:p.Leu129ArgfsTer?
NM_198681.3:c.617del	NP_941374.2:p.Leu206ArgfsTer?
NM_001042663.2:c.554del	NP_001036128.1:p.Leu185ArgfsTer?
NM_001265594.2:c.386del	NP_001252523.1:p.Leu129ArgfsTer?
NM_020631.5:c.386del	NP_065682.2:p.Leu129ArgfsTer?
NM_001042663.3:c.497del	NP_001036128.2:p.Leu166ArgfsTer?
NM_001265592.2:c.497del	NP_001252521.2:p.Leu166ArgfsTer?
NM_020631.6:c.386del MANE Select	NP_065682.2:p.Leu129ArgfsTer?
NM_198681.4:c.386del	NP_941374.3:p.Leu129ArgfsTer?