Canonical Allele Identifier: CA2740090577

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2945617
• ClinVar RCV Id: RCV003803711

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469159del , CM000663.2:g.6469159del	GRCh38
NC_000001.10:g.6529219del , CM000663.1:g.6529219del	GRCh37
NC_000001.9:g.6451806del	NCBI36
NG_007978.1:g.55851del , LRG_262:g.55851del
NG_029910.1:g.2037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2132del	ENSP00000344570.5:p.Gln711ArgfsTer?
ENST00000377728.8:c.2132del MANE Select	ENSP00000366957.3:p.Gln711ArgfsTer?
ENST00000377740.5:c.2132del	ENSP00000366969.4:p.Gln711ArgfsTer?
ENST00000377748.6:c.2306del	ENSP00000366977.2:p.Gln769ArgfsTer?
ENST00000400913.6:c.2132del	ENSP00000383704.1:p.Gln711ArgfsTer?
ENST00000400915.8:c.2243del	ENSP00000383706.4:p.Gln748ArgfsTer?
ENST00000489097.6:n.2608del
ENST00000535355.6:c.2339del	ENSP00000441445.1:p.Gln780ArgfsTer?
ENST00000537245.6:c.2243del	ENSP00000439625.2:p.Gln748ArgfsTer?
ENST00000673471.2:c.2429del	ENSP00000500749.1:p.Gln810ArgfsTer?
ENST00000674790.1:c.*2344del	ENSP00000502815.1:n.*2344del
ENST00000675123.1:c.2132del	ENSP00000502132.1:p.Gln711ArgfsTer?
ENST00000675139.1:n.203del
ENST00000675548.1:c.*1960del	ENSP00000502684.1:n.*1960del
ENST00000675694.1:c.2132del	ENSP00000501925.1:p.Gln711ArgfsTer?
ENST00000675976.1:c.5del	ENSP00000501611.1:p.Gln2ArgfsTer?
ENST00000340850.9:c.2132del	ENSP00000344570.5:p.Gln711ArgfsTer?
ENST00000377725.5:c.2132del	ENSP00000366954.1:p.Gln711ArgfsTer?
ENST00000377728.7:c.2132del	ENSP00000366957.3:p.Gln711ArgfsTer?
ENST00000377732.5:c.2243del	ENSP00000366961.1:p.Gln748ArgfsTer?
ENST00000377740.4:c.2363del	ENSP00000366969.3:p.Gln788ArgfsTer?
ENST00000377748.5:c.2363del	ENSP00000366977.1:p.Gln788ArgfsTer?
ENST00000400913.5:c.2132del	ENSP00000383704.1:p.Gln711ArgfsTer?
ENST00000400915.7:c.2300del	ENSP00000383706.3:p.Gln767ArgfsTer?
ENST00000487949.4:n.1334del
ENST00000489097.5:n.2608del
ENST00000535355.5:c.2339del	ENSP00000441445.1:p.Gln780ArgfsTer?
ENST00000537245.5:c.2369del	ENSP00000439625.1:p.Gln790ArgfsTer?
NM_001042663.1:c.2300del	NP_001036128.1:p.Gln767ArgfsTer?
NM_001042664.1:c.2132del	NP_001036129.1:p.Gln711ArgfsTer?
NM_001042665.1:c.2132del	NP_001036130.1:p.Gln711ArgfsTer?
NM_001265592.1:c.2369del	NP_001252521.1:p.Gln790ArgfsTer?
NM_001265593.1:c.2339del	NP_001252522.1:p.Gln780ArgfsTer?
NM_001265594.1:c.2132del	NP_001252523.1:p.Gln711ArgfsTer?
NM_020631.4:c.2132del	NP_065682.2:p.Gln711ArgfsTer?
NM_198681.3:c.2363del	NP_941374.2:p.Gln788ArgfsTer?
NM_001042663.2:c.2300del	NP_001036128.1:p.Gln767ArgfsTer?
NM_001265594.2:c.2132del	NP_001252523.1:p.Gln711ArgfsTer?
NM_020631.5:c.2132del	NP_065682.2:p.Gln711ArgfsTer?
NM_001042663.3:c.2243del	NP_001036128.2:p.Gln748ArgfsTer?
NM_001265592.2:c.2243del	NP_001252521.2:p.Gln748ArgfsTer?
NM_020631.6:c.2132del MANE Select	NP_065682.2:p.Gln711ArgfsTer?
NM_198681.4:c.2132del	NP_941374.3:p.Gln711ArgfsTer?