Canonical Allele Identifier: CA1151520422

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469134_6469149delinsCTCCTCCTCCTCCTCT , CM000663.2:g.6469134_6469149delinsCTCCTCCTCCTCCTCT	GRCh38
NC_000001.10:g.6529194_6529209delinsCTCCTCCTCCTCCTCT , CM000663.1:g.6529194_6529209delinsCTCCTCCTCCTCCTCT	GRCh37
NC_000001.9:g.6451781_6451796delinsCTCCTCCTCCTCCTCT	NCBI36
NG_007978.1:g.55861_55876delinsAGAGGAGGAGGAGGAG , LRG_262:g.55861_55876delinsAGAGGAGGAGGAGGAG
NG_029910.1:g.2047_2062delinsAGAGGAGGAGGAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000344570.5:p.Glu714=
ENST00000377728.8:c.2142_2157delinsAGAGGAGGAGGAGGAG MANE Select	ENSP00000366957.3:p.Glu714=
ENST00000377740.5:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000366969.4:p.Glu714=
ENST00000377748.6:c.2316_2331delinsAGAGGAGGAGGAGGAG	ENSP00000366977.2:p.Glu772=
ENST00000400913.6:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000383704.1:p.Glu714=
ENST00000400915.8:c.2253_2268delinsAGAGGAGGAGGAGGAG	ENSP00000383706.4:p.Glu751=
ENST00000489097.6:n.2618_2633delinsAGAGGAGGAGGAGGAG
ENST00000535355.6:c.2349_2364delinsAGAGGAGGAGGAGGAG	ENSP00000441445.1:p.Glu783=
ENST00000537245.6:c.2253_2268delinsAGAGGAGGAGGAGGAG	ENSP00000439625.2:p.Glu751=
ENST00000673471.2:c.2439_2454delinsAGAGGAGGAGGAGGAG	ENSP00000500749.1:p.Glu813=
ENST00000674790.1:c.*2354_*2369delinsAGAGGAGGAGGAGGAG	ENSP00000502815.1:n.*2354_*2369delinsAGAGGAGGAGGAGGAG
ENST00000675123.1:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000502132.1:p.Glu714=
ENST00000675139.1:n.213_228delinsAGAGGAGGAGGAGGAG
ENST00000675548.1:c.*1970_*1985delinsAGAGGAGGAGGAGGAG	ENSP00000502684.1:n.*1970_*1985delinsAGAGGAGGAGGAGGAG
ENST00000675694.1:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000501925.1:p.Glu714=
ENST00000675976.1:c.15_30delinsAGAGGAGGAGGAGGAG	ENSP00000501611.1:p.Glu5=
ENST00000340850.9:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000344570.5:p.Glu714=
ENST00000377725.5:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000366954.1:p.Glu714=
ENST00000377728.7:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000366957.3:p.Glu714=
ENST00000377732.5:c.2253_2268delinsAGAGGAGGAGGAGGAG	ENSP00000366961.1:p.Glu751=
ENST00000377740.4:c.2373_2388delinsAGAGGAGGAGGAGGAG	ENSP00000366969.3:p.Glu791=
ENST00000377748.5:c.2373_2388delinsAGAGGAGGAGGAGGAG	ENSP00000366977.1:p.Glu791=
ENST00000400913.5:c.2142_2157delinsAGAGGAGGAGGAGGAG	ENSP00000383704.1:p.Glu714=
ENST00000400915.7:c.2310_2325delinsAGAGGAGGAGGAGGAG	ENSP00000383706.3:p.Glu770=
ENST00000487949.4:n.1344_1359delinsAGAGGAGGAGGAGGAG
ENST00000489097.5:n.2618_2633delinsAGAGGAGGAGGAGGAG
ENST00000535355.5:c.2349_2364delinsAGAGGAGGAGGAGGAG	ENSP00000441445.1:p.Glu783=
ENST00000537245.5:c.2379_2394delinsAGAGGAGGAGGAGGAG	ENSP00000439625.1:p.Glu793=
NM_001042663.1:c.2310_2325delinsAGAGGAGGAGGAGGAG	NP_001036128.1:p.Glu770=
NM_001042664.1:c.2142_2157delinsAGAGGAGGAGGAGGAG	NP_001036129.1:p.Glu714=
NM_001042665.1:c.2142_2157delinsAGAGGAGGAGGAGGAG	NP_001036130.1:p.Glu714=
NM_001265592.1:c.2379_2394delinsAGAGGAGGAGGAGGAG	NP_001252521.1:p.Glu793=
NM_001265593.1:c.2349_2364delinsAGAGGAGGAGGAGGAG	NP_001252522.1:p.Glu783=
NM_001265594.1:c.2142_2157delinsAGAGGAGGAGGAGGAG	NP_001252523.1:p.Glu714=
NM_020631.4:c.2142_2157delinsAGAGGAGGAGGAGGAG	NP_065682.2:p.Glu714=
NM_198681.3:c.2373_2388delinsAGAGGAGGAGGAGGAG	NP_941374.2:p.Glu791=
NM_001042663.2:c.2310_2325delinsAGAGGAGGAGGAGGAG	NP_001036128.1:p.Glu770=
NM_001265594.2:c.2142_2157delinsAGAGGAGGAGGAGGAG	NP_001252523.1:p.Glu714=
NM_020631.5:c.2142_2157delinsAGAGGAGGAGGAGGAG	NP_065682.2:p.Glu714=
NM_001042663.3:c.2253_2268delinsAGAGGAGGAGGAGGAG	NP_001036128.2:p.Glu751=
NM_001265592.2:c.2253_2268delinsAGAGGAGGAGGAGGAG	NP_001252521.2:p.Glu751=
NM_020631.6:c.2142_2157delinsAGAGGAGGAGGAGGAG MANE Select	NP_065682.2:p.Glu714=
NM_198681.4:c.2142_2157delinsAGAGGAGGAGGAGGAG	NP_941374.3:p.Glu714=