Canonical Allele Identifier: CA17234893

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2501239
• ClinVar RCV Id: RCV003226836
• dbSNP Id: rs386628081

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469128_6469131delinsT , CM000663.2:g.6469128_6469131delinsT	GRCh38
NC_000001.10:g.6529188_6529191delinsT , CM000663.1:g.6529188_6529191delinsT	GRCh37
NC_000001.9:g.6451775_6451778delinsT	NCBI36
NG_007978.1:g.55879_55882delinsA , LRG_262:g.55879_55882delinsA
NG_029910.1:g.2065_2068delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2160_2163delinsA	ENSP00000344570.5:p.Glu721del
ENST00000377728.8:c.2160_2163delinsA MANE Select	ENSP00000366957.3:p.Glu721del
ENST00000377740.5:c.2160_2163delinsA	ENSP00000366969.4:p.Glu721del
ENST00000377748.6:c.2334_2337delinsA	ENSP00000366977.2:p.Glu779del
ENST00000400913.6:c.2160_2163delinsA	ENSP00000383704.1:p.Glu721del
ENST00000400915.8:c.2271_2274delinsA	ENSP00000383706.4:p.Glu758del
ENST00000489097.6:n.2636_2639delinsA
ENST00000535355.6:c.2367_2370delinsA	ENSP00000441445.1:p.Glu790del
ENST00000537245.6:c.2271_2274delinsA	ENSP00000439625.2:p.Glu758del
ENST00000673471.2:c.2457_2460delinsA	ENSP00000500749.1:p.Glu820del
ENST00000674790.1:c.*2372_*2375delinsA	ENSP00000502815.1:n.*2372_*2375delinsA
ENST00000675123.1:c.2160_2163delinsA	ENSP00000502132.1:p.Glu721del
ENST00000675139.1:n.231_234delinsA
ENST00000675548.1:c.*1988_*1991delinsA	ENSP00000502684.1:n.*1988_*1991delinsA
ENST00000675694.1:c.2160_2163delinsA	ENSP00000501925.1:p.Glu721del
ENST00000675976.1:c.33_36delinsA	ENSP00000501611.1:p.Glu12del
ENST00000340850.9:c.2160_2163delinsA	ENSP00000344570.5:p.Glu721del
ENST00000377725.5:c.2160_2163delinsA	ENSP00000366954.1:p.Glu721del
ENST00000377728.7:c.2160_2163delinsA	ENSP00000366957.3:p.Glu721del
ENST00000377732.5:c.2271_2274delinsA	ENSP00000366961.1:p.Glu758del
ENST00000377740.4:c.2391_2394delinsA	ENSP00000366969.3:p.Glu798del
ENST00000377748.5:c.2391_2394delinsA	ENSP00000366977.1:p.Glu798del
ENST00000400913.5:c.2160_2163delinsA	ENSP00000383704.1:p.Glu721del
ENST00000400915.7:c.2328_2331delinsA	ENSP00000383706.3:p.Glu777del
ENST00000487949.4:n.1362_1365delinsA
ENST00000489097.5:n.2636_2639delinsA
ENST00000535355.5:c.2367_2370delinsA	ENSP00000441445.1:p.Glu790del
ENST00000537245.5:c.2397_2400delinsA	ENSP00000439625.1:p.Glu800del
NM_001042663.1:c.2328_2331delinsA	NP_001036128.1:p.Glu777del
NM_001042664.1:c.2160_2163delinsA	NP_001036129.1:p.Glu721del
NM_001042665.1:c.2160_2163delinsA	NP_001036130.1:p.Glu721del
NM_001265592.1:c.2397_2400delinsA	NP_001252521.1:p.Glu800del
NM_001265593.1:c.2367_2370delinsA	NP_001252522.1:p.Glu790del
NM_001265594.1:c.2160_2163delinsA	NP_001252523.1:p.Glu721del
NM_020631.4:c.2160_2163delinsA	NP_065682.2:p.Glu721del
NM_198681.3:c.2391_2394delinsA	NP_941374.2:p.Glu798del
NM_001042663.2:c.2328_2331delinsA	NP_001036128.1:p.Glu777del
NM_001265594.2:c.2160_2163delinsA	NP_001252523.1:p.Glu721del
NM_020631.5:c.2160_2163delinsA	NP_065682.2:p.Glu721del
NM_001042663.3:c.2271_2274delinsA	NP_001036128.2:p.Glu758del
NM_001265592.2:c.2271_2274delinsA	NP_001252521.2:p.Glu758del
NM_020631.6:c.2160_2163delinsA MANE Select	NP_065682.2:p.Glu721del
NM_198681.4:c.2160_2163delinsA	NP_941374.3:p.Glu721del