Canonical Allele Identifier: CA561239

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1977082
• ClinVar RCV Id: RCV002750596 ; RCV003167706
• dbSNP Id: rs760699878
• ExAC: 1:6529194 CTCCTCCTCCTCCTCT / C
• gnomAD v2: 1-6529194-CTCCTCCTCCTCCTCT-C
• gnomAD v3: 1-6469134-CTCCTCCTCCTCCTCT-C
• gnomAD v4: 1-6469134-CTCCTCCTCCTCCTCT-C
• MyVariant Identifiers: chr1:g.6529195_6529209del (hg19) ; chr1:g.6469135_6469149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469145_6469159del , CM000663.2:g.6469145_6469159del	GRCh38
NC_000001.10:g.6529205_6529219del , CM000663.1:g.6529205_6529219del	GRCh37
NC_000001.9:g.6451792_6451806del	NCBI36
NG_007978.1:g.55861_55875del , LRG_262:g.55861_55875del
NG_029910.1:g.2047_2061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2142_2156del	ENSP00000344570.5:p.Glu715_Glu719del
ENST00000377728.8:c.2142_2156del MANE Select	ENSP00000366957.3:p.Glu715_Glu719del
ENST00000377740.5:c.2142_2156del	ENSP00000366969.4:p.Glu715_Glu719del
ENST00000377748.6:c.2316_2330del	ENSP00000366977.2:p.Glu773_Glu777del
ENST00000400913.6:c.2142_2156del	ENSP00000383704.1:p.Glu715_Glu719del
ENST00000400915.8:c.2253_2267del	ENSP00000383706.4:p.Glu752_Glu756del
ENST00000489097.6:n.2618_2632del
ENST00000535355.6:c.2349_2363del	ENSP00000441445.1:p.Glu784_Glu788del
ENST00000537245.6:c.2253_2267del	ENSP00000439625.2:p.Glu752_Glu756del
ENST00000673471.2:c.2439_2453del	ENSP00000500749.1:p.Glu814_Glu818del
ENST00000674790.1:c.*2354_*2368del	ENSP00000502815.1:n.*2354_*2368del
ENST00000675123.1:c.2142_2156del	ENSP00000502132.1:p.Glu715_Glu719del
ENST00000675139.1:n.213_227del
ENST00000675548.1:c.*1970_*1984del	ENSP00000502684.1:n.*1970_*1984del
ENST00000675694.1:c.2142_2156del	ENSP00000501925.1:p.Glu715_Glu719del
ENST00000675976.1:c.15_29del	ENSP00000501611.1:p.Glu6_Glu10del
ENST00000340850.9:c.2142_2156del	ENSP00000344570.5:p.Glu715_Glu719del
ENST00000377725.5:c.2142_2156del	ENSP00000366954.1:p.Glu715_Glu719del
ENST00000377728.7:c.2142_2156del	ENSP00000366957.3:p.Glu715_Glu719del
ENST00000377732.5:c.2253_2267del	ENSP00000366961.1:p.Glu752_Glu756del
ENST00000377740.4:c.2373_2387del	ENSP00000366969.3:p.Glu792_Glu796del
ENST00000377748.5:c.2373_2387del	ENSP00000366977.1:p.Glu792_Glu796del
ENST00000400913.5:c.2142_2156del	ENSP00000383704.1:p.Glu715_Glu719del
ENST00000400915.7:c.2310_2324del	ENSP00000383706.3:p.Glu771_Glu775del
ENST00000487949.4:n.1344_1358del
ENST00000489097.5:n.2618_2632del
ENST00000535355.5:c.2349_2363del	ENSP00000441445.1:p.Glu784_Glu788del
ENST00000537245.5:c.2379_2393del	ENSP00000439625.1:p.Glu794_Glu798del
NM_001042663.1:c.2310_2324del	NP_001036128.1:p.Glu771_Glu775del
NM_001042664.1:c.2142_2156del	NP_001036129.1:p.Glu715_Glu719del
NM_001042665.1:c.2142_2156del	NP_001036130.1:p.Glu715_Glu719del
NM_001265592.1:c.2379_2393del	NP_001252521.1:p.Glu794_Glu798del
NM_001265593.1:c.2349_2363del	NP_001252522.1:p.Glu784_Glu788del
NM_001265594.1:c.2142_2156del	NP_001252523.1:p.Glu715_Glu719del
NM_020631.4:c.2142_2156del	NP_065682.2:p.Glu715_Glu719del
NM_198681.3:c.2373_2387del	NP_941374.2:p.Glu792_Glu796del
NM_001042663.2:c.2310_2324del	NP_001036128.1:p.Glu771_Glu775del
NM_001265594.2:c.2142_2156del	NP_001252523.1:p.Glu715_Glu719del
NM_020631.5:c.2142_2156del	NP_065682.2:p.Glu715_Glu719del
NM_001042663.3:c.2253_2267del	NP_001036128.2:p.Glu752_Glu756del
NM_001265592.2:c.2253_2267del	NP_001252521.2:p.Glu752_Glu756del
NM_020631.6:c.2142_2156del MANE Select	NP_065682.2:p.Glu715_Glu719del
NM_198681.4:c.2142_2156del	NP_941374.3:p.Glu715_Glu719del