Canonical Allele Identifier: CA521018915

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1553175079
• gnomAD v2: 1-6534147-GC-G
• gnomAD v3: 1-6474087-GC-G
• gnomAD v4: 1-6474087-GC-G
• MyVariant Identifiers: chr1:g.6534148del (hg19) ; chr1:g.6474088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474088del , CM000663.2:g.6474088del	GRCh38
NC_000001.10:g.6534148del , CM000663.1:g.6534148del	GRCh37
NC_000001.9:g.6456735del	NCBI36
NG_007978.1:g.50922del , LRG_262:g.50922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.516del	ENSP00000344570.5:p.Arg173GlyfsTer?
ENST00000377728.8:c.516del MANE Select	ENSP00000366957.3:p.Arg173GlyfsTer?
ENST00000377740.5:c.516del	ENSP00000366969.4:p.Arg173GlyfsTer?
ENST00000377748.6:c.690del	ENSP00000366977.2:p.Arg231GlyfsTer?
ENST00000400913.6:c.516del	ENSP00000383704.1:p.Arg173GlyfsTer?
ENST00000400915.8:c.627del	ENSP00000383706.4:p.Arg210GlyfsTer?
ENST00000489097.6:n.992del
ENST00000535355.6:c.723del	ENSP00000441445.1:p.Arg242GlyfsTer?
ENST00000537245.6:c.627del	ENSP00000439625.2:p.Arg210GlyfsTer?
ENST00000673471.2:c.813del	ENSP00000500749.1:p.Arg272GlyfsTer?
ENST00000674790.1:c.*728del	ENSP00000502815.1:n.*728del
ENST00000675123.1:c.516del	ENSP00000502132.1:p.Arg173GlyfsTer?
ENST00000675548.1:c.*344del	ENSP00000502684.1:n.*344del
ENST00000675694.1:c.516del	ENSP00000501925.1:p.Arg173GlyfsTer?
ENST00000340850.9:c.516del	ENSP00000344570.5:p.Arg173GlyfsTer?
ENST00000377725.5:c.516del	ENSP00000366954.1:p.Arg173GlyfsTer?
ENST00000377728.7:c.516del	ENSP00000366957.3:p.Arg173GlyfsTer?
ENST00000377732.5:c.627del	ENSP00000366961.1:p.Arg210GlyfsTer?
ENST00000377740.4:c.747del	ENSP00000366969.3:p.Arg250GlyfsTer?
ENST00000377748.5:c.747del	ENSP00000366977.1:p.Arg250GlyfsTer?
ENST00000400913.5:c.516del	ENSP00000383704.1:p.Arg173GlyfsTer?
ENST00000400915.7:c.684del	ENSP00000383706.3:p.Arg229GlyfsTer?
ENST00000489097.5:n.992del
ENST00000535355.5:c.723del	ENSP00000441445.1:p.Arg242GlyfsTer?
ENST00000537245.5:c.753del	ENSP00000439625.1:p.Arg252GlyfsTer?
NM_001042663.1:c.684del	NP_001036128.1:p.Arg229GlyfsTer?
NM_001042664.1:c.516del	NP_001036129.1:p.Arg173GlyfsTer?
NM_001042665.1:c.516del	NP_001036130.1:p.Arg173GlyfsTer?
NM_001265592.1:c.753del	NP_001252521.1:p.Arg252GlyfsTer?
NM_001265593.1:c.723del	NP_001252522.1:p.Arg242GlyfsTer?
NM_001265594.1:c.516del	NP_001252523.1:p.Arg173GlyfsTer?
NM_020631.4:c.516del	NP_065682.2:p.Arg173GlyfsTer?
NM_198681.3:c.747del	NP_941374.2:p.Arg250GlyfsTer?
NM_001042663.2:c.684del	NP_001036128.1:p.Arg229GlyfsTer?
NM_001265594.2:c.516del	NP_001252523.1:p.Arg173GlyfsTer?
NM_020631.5:c.516del	NP_065682.2:p.Arg173GlyfsTer?
NM_001042663.3:c.627del	NP_001036128.2:p.Arg210GlyfsTer?
NM_001265592.2:c.627del	NP_001252521.2:p.Arg210GlyfsTer?
NM_020631.6:c.516del MANE Select	NP_065682.2:p.Arg173GlyfsTer?
NM_198681.4:c.516del	NP_941374.3:p.Arg173GlyfsTer?