Canonical Allele Identifier: CA561238

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs773064930
• ExAC: 1:6529189 TC / T
• gnomAD v2: 1-6529189-TC-T
• gnomAD v3: 1-6469129-TC-T
• gnomAD v4: 1-6469129-TC-T
• MyVariant Identifiers: chr1:g.6529191del (hg19) ; chr1:g.6529190del (hg19) ; chr1:g.6469131del (hg38) ; chr1:g.6469130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469131del , CM000663.2:g.6469131del	GRCh38
NC_000001.10:g.6529191del , CM000663.1:g.6529191del	GRCh37
NC_000001.9:g.6451778del	NCBI36
NG_007978.1:g.55880del , LRG_262:g.55880del
NG_029910.1:g.2066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2161del	ENSP00000344570.5:p.Glu721ArgfsTer?
ENST00000377728.8:c.2161del MANE Select	ENSP00000366957.3:p.Glu721ArgfsTer?
ENST00000377740.5:c.2161del	ENSP00000366969.4:p.Glu721ArgfsTer?
ENST00000377748.6:c.2335del	ENSP00000366977.2:p.Glu779ArgfsTer?
ENST00000400913.6:c.2161del	ENSP00000383704.1:p.Glu721ArgfsTer?
ENST00000400915.8:c.2272del	ENSP00000383706.4:p.Glu758ArgfsTer?
ENST00000489097.6:n.2637del
ENST00000535355.6:c.2368del	ENSP00000441445.1:p.Glu790ArgfsTer?
ENST00000537245.6:c.2272del	ENSP00000439625.2:p.Glu758ArgfsTer?
ENST00000673471.2:c.2458del	ENSP00000500749.1:p.Glu820ArgfsTer?
ENST00000674790.1:c.*2373del	ENSP00000502815.1:n.*2373del
ENST00000675123.1:c.2161del	ENSP00000502132.1:p.Glu721ArgfsTer?
ENST00000675139.1:n.232del
ENST00000675548.1:c.*1989del	ENSP00000502684.1:n.*1989del
ENST00000675694.1:c.2161del	ENSP00000501925.1:p.Glu721ArgfsTer?
ENST00000675976.1:c.34del	ENSP00000501611.1:p.Glu12ArgfsTer?
ENST00000340850.9:c.2161del	ENSP00000344570.5:p.Glu721ArgfsTer?
ENST00000377725.5:c.2161del	ENSP00000366954.1:p.Glu721ArgfsTer?
ENST00000377728.7:c.2161del	ENSP00000366957.3:p.Glu721ArgfsTer?
ENST00000377732.5:c.2272del	ENSP00000366961.1:p.Glu758ArgfsTer?
ENST00000377740.4:c.2392del	ENSP00000366969.3:p.Glu798ArgfsTer?
ENST00000377748.5:c.2392del	ENSP00000366977.1:p.Glu798ArgfsTer?
ENST00000400913.5:c.2161del	ENSP00000383704.1:p.Glu721ArgfsTer?
ENST00000400915.7:c.2329del	ENSP00000383706.3:p.Glu777ArgfsTer?
ENST00000487949.4:n.1363del
ENST00000489097.5:n.2637del
ENST00000535355.5:c.2368del	ENSP00000441445.1:p.Glu790ArgfsTer?
ENST00000537245.5:c.2398del	ENSP00000439625.1:p.Glu800ArgfsTer?
NM_001042663.1:c.2329del	NP_001036128.1:p.Glu777ArgfsTer?
NM_001042664.1:c.2161del	NP_001036129.1:p.Glu721ArgfsTer?
NM_001042665.1:c.2161del	NP_001036130.1:p.Glu721ArgfsTer?
NM_001265592.1:c.2398del	NP_001252521.1:p.Glu800ArgfsTer?
NM_001265593.1:c.2368del	NP_001252522.1:p.Glu790ArgfsTer?
NM_001265594.1:c.2161del	NP_001252523.1:p.Glu721ArgfsTer?
NM_020631.4:c.2161del	NP_065682.2:p.Glu721ArgfsTer?
NM_198681.3:c.2392del	NP_941374.2:p.Glu798ArgfsTer?
NM_001042663.2:c.2329del	NP_001036128.1:p.Glu777ArgfsTer?
NM_001265594.2:c.2161del	NP_001252523.1:p.Glu721ArgfsTer?
NM_020631.5:c.2161del	NP_065682.2:p.Glu721ArgfsTer?
NM_001042663.3:c.2272del	NP_001036128.2:p.Glu758ArgfsTer?
NM_001265592.2:c.2272del	NP_001252521.2:p.Glu758ArgfsTer?
NM_020631.6:c.2161del MANE Select	NP_065682.2:p.Glu721ArgfsTer?
NM_198681.4:c.2161del	NP_941374.3:p.Glu721ArgfsTer?