Canonical Allele Identifier: CA2642977451

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474048-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474052_6474053del , CM000663.2:g.6474052_6474053del	GRCh38
NC_000001.10:g.6534112_6534113del , CM000663.1:g.6534112_6534113del	GRCh37
NC_000001.9:g.6456699_6456700del	NCBI36
NG_007978.1:g.50960_50961del , LRG_262:g.50960_50961del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.554_555del	ENSP00000344570.5:p.Val185GlyfsTer?
ENST00000377728.8:c.554_555del MANE Select	ENSP00000366957.3:p.Val185GlyfsTer?
ENST00000377740.5:c.554_555del	ENSP00000366969.4:p.Val185GlyfsTer?
ENST00000377748.6:c.728_729del	ENSP00000366977.2:p.Val243GlyfsTer?
ENST00000400913.6:c.554_555del	ENSP00000383704.1:p.Val185GlyfsTer?
ENST00000400915.8:c.665_666del	ENSP00000383706.4:p.Val222GlyfsTer?
ENST00000489097.6:n.1030_1031del
ENST00000535355.6:c.761_762del	ENSP00000441445.1:p.Val254GlyfsTer?
ENST00000537245.6:c.665_666del	ENSP00000439625.2:p.Val222GlyfsTer?
ENST00000673471.2:c.851_852del	ENSP00000500749.1:p.Val284GlyfsTer?
ENST00000674790.1:c.*766_*767del	ENSP00000502815.1:n.*766_*767del
ENST00000675123.1:c.554_555del	ENSP00000502132.1:p.Val185GlyfsTer?
ENST00000675548.1:c.*382_*383del	ENSP00000502684.1:n.*382_*383del
ENST00000675694.1:c.554_555del	ENSP00000501925.1:p.Val185GlyfsTer?
ENST00000340850.9:c.554_555del	ENSP00000344570.5:p.Val185GlyfsTer?
ENST00000377725.5:c.554_555del	ENSP00000366954.1:p.Val185GlyfsTer?
ENST00000377728.7:c.554_555del	ENSP00000366957.3:p.Val185GlyfsTer?
ENST00000377732.5:c.665_666del	ENSP00000366961.1:p.Val222GlyfsTer?
ENST00000377740.4:c.785_786del	ENSP00000366969.3:p.Val262GlyfsTer?
ENST00000377748.5:c.785_786del	ENSP00000366977.1:p.Val262GlyfsTer?
ENST00000400913.5:c.554_555del	ENSP00000383704.1:p.Val185GlyfsTer?
ENST00000400915.7:c.722_723del	ENSP00000383706.3:p.Val241GlyfsTer?
ENST00000489097.5:n.1030_1031del
ENST00000535355.5:c.761_762del	ENSP00000441445.1:p.Val254GlyfsTer?
ENST00000537245.5:c.791_792del	ENSP00000439625.1:p.Val264GlyfsTer?
NM_001042663.1:c.722_723del	NP_001036128.1:p.Val241GlyfsTer?
NM_001042664.1:c.554_555del	NP_001036129.1:p.Val185GlyfsTer?
NM_001042665.1:c.554_555del	NP_001036130.1:p.Val185GlyfsTer?
NM_001265592.1:c.791_792del	NP_001252521.1:p.Val264GlyfsTer?
NM_001265593.1:c.761_762del	NP_001252522.1:p.Val254GlyfsTer?
NM_001265594.1:c.554_555del	NP_001252523.1:p.Val185GlyfsTer?
NM_020631.4:c.554_555del	NP_065682.2:p.Val185GlyfsTer?
NM_198681.3:c.785_786del	NP_941374.2:p.Val262GlyfsTer?
NM_001042663.2:c.722_723del	NP_001036128.1:p.Val241GlyfsTer?
NM_001265594.2:c.554_555del	NP_001252523.1:p.Val185GlyfsTer?
NM_020631.5:c.554_555del	NP_065682.2:p.Val185GlyfsTer?
NM_001042663.3:c.665_666del	NP_001036128.2:p.Val222GlyfsTer?
NM_001265592.2:c.665_666del	NP_001252521.2:p.Val222GlyfsTer?
NM_020631.6:c.554_555del MANE Select	NP_065682.2:p.Val185GlyfsTer?
NM_198681.4:c.554_555del	NP_941374.3:p.Val185GlyfsTer?