Canonical Allele Identifier: CA737847635

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1489529520
• gnomAD v4: 1-6469140-CTCCTCCTCT-C
• MyVariant Identifiers: chr1:g.6529201_6529209del (hg19) ; chr1:g.6469141_6469149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469149_6469157del , CM000663.2:g.6469149_6469157del	GRCh38
NC_000001.10:g.6529209_6529217del , CM000663.1:g.6529209_6529217del	GRCh37
NC_000001.9:g.6451796_6451804del	NCBI36
NG_007978.1:g.55861_55869del , LRG_262:g.55861_55869del
NG_029910.1:g.2047_2055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2142_2150del	ENSP00000344570.5:p.Glu715_Glu717del
ENST00000377728.8:c.2142_2150del MANE Select	ENSP00000366957.3:p.Glu715_Glu717del
ENST00000377740.5:c.2142_2150del	ENSP00000366969.4:p.Glu715_Glu717del
ENST00000377748.6:c.2316_2324del	ENSP00000366977.2:p.Glu773_Glu775del
ENST00000400913.6:c.2142_2150del	ENSP00000383704.1:p.Glu715_Glu717del
ENST00000400915.8:c.2253_2261del	ENSP00000383706.4:p.Glu752_Glu754del
ENST00000489097.6:n.2618_2626del
ENST00000535355.6:c.2349_2357del	ENSP00000441445.1:p.Glu784_Glu786del
ENST00000537245.6:c.2253_2261del	ENSP00000439625.2:p.Glu752_Glu754del
ENST00000673471.2:c.2439_2447del	ENSP00000500749.1:p.Glu814_Glu816del
ENST00000674790.1:c.*2354_*2362del	ENSP00000502815.1:n.*2354_*2362del
ENST00000675123.1:c.2142_2150del	ENSP00000502132.1:p.Glu715_Glu717del
ENST00000675139.1:n.213_221del
ENST00000675548.1:c.*1970_*1978del	ENSP00000502684.1:n.*1970_*1978del
ENST00000675694.1:c.2142_2150del	ENSP00000501925.1:p.Glu715_Glu717del
ENST00000675976.1:c.15_23del	ENSP00000501611.1:p.Glu6_Glu8del
ENST00000340850.9:c.2142_2150del	ENSP00000344570.5:p.Glu715_Glu717del
ENST00000377725.5:c.2142_2150del	ENSP00000366954.1:p.Glu715_Glu717del
ENST00000377728.7:c.2142_2150del	ENSP00000366957.3:p.Glu715_Glu717del
ENST00000377732.5:c.2253_2261del	ENSP00000366961.1:p.Glu752_Glu754del
ENST00000377740.4:c.2373_2381del	ENSP00000366969.3:p.Glu792_Glu794del
ENST00000377748.5:c.2373_2381del	ENSP00000366977.1:p.Glu792_Glu794del
ENST00000400913.5:c.2142_2150del	ENSP00000383704.1:p.Glu715_Glu717del
ENST00000400915.7:c.2310_2318del	ENSP00000383706.3:p.Glu771_Glu773del
ENST00000487949.4:n.1344_1352del
ENST00000489097.5:n.2618_2626del
ENST00000535355.5:c.2349_2357del	ENSP00000441445.1:p.Glu784_Glu786del
ENST00000537245.5:c.2379_2387del	ENSP00000439625.1:p.Glu794_Glu796del
NM_001042663.1:c.2310_2318del	NP_001036128.1:p.Glu771_Glu773del
NM_001042664.1:c.2142_2150del	NP_001036129.1:p.Glu715_Glu717del
NM_001042665.1:c.2142_2150del	NP_001036130.1:p.Glu715_Glu717del
NM_001265592.1:c.2379_2387del	NP_001252521.1:p.Glu794_Glu796del
NM_001265593.1:c.2349_2357del	NP_001252522.1:p.Glu784_Glu786del
NM_001265594.1:c.2142_2150del	NP_001252523.1:p.Glu715_Glu717del
NM_020631.4:c.2142_2150del	NP_065682.2:p.Glu715_Glu717del
NM_198681.3:c.2373_2381del	NP_941374.2:p.Glu792_Glu794del
NM_001042663.2:c.2310_2318del	NP_001036128.1:p.Glu771_Glu773del
NM_001265594.2:c.2142_2150del	NP_001252523.1:p.Glu715_Glu717del
NM_020631.5:c.2142_2150del	NP_065682.2:p.Glu715_Glu717del
NM_001042663.3:c.2253_2261del	NP_001036128.2:p.Glu752_Glu754del
NM_001265592.2:c.2253_2261del	NP_001252521.2:p.Glu752_Glu754del
NM_020631.6:c.2142_2150del MANE Select	NP_065682.2:p.Glu715_Glu717del
NM_198681.4:c.2142_2150del	NP_941374.3:p.Glu715_Glu717del