Canonical Allele Identifier: CA1151525486
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6470794_6470820delinsGCAGCAGCGGGTACTTGGTGAGCCGCT , CM000663.2:g.6470794_6470820delinsGCAGCAGCGGGTACTTGGTGAGCCGCT GRCh38
NC_000001.10:g.6530854_6530880delinsGCAGCAGCGGGTACTTGGTGAGCCGCT , CM000663.1:g.6530854_6530880delinsGCAGCAGCGGGTACTTGGTGAGCCGCT GRCh37
NC_000001.9:g.6453441_6453467delinsGCAGCAGCGGGTACTTGGTGAGCCGCT NCBI36
NG_007978.1:g.54190_54216delinsAGCGGCTCACCAAGTACCCGCTGCTGC , LRG_262:g.54190_54216delinsAGCGGCTCACCAAGTACCCGCTGCTGC
NG_029910.1:g.376_402delinsAGCGGCTCACCAAGTACCCGCTGCTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000344570.5:p.Gln486=
ENST00000377728.8:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC MANE Select ENSP00000366957.3:p.Gln486=
ENST00000377740.5:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000366969.4:p.Gln486=
ENST00000377748.6:c.1631_1657delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000366977.2:p.Gln544=
ENST00000400913.6:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000383704.1:p.Gln486=
ENST00000400915.8:c.1568_1594delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000383706.4:p.Gln523=
ENST00000489097.6:n.1933_1959delinsAGCGGCTCACCAAGTACCCGCTGCTGC
ENST00000535355.6:c.1664_1690delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000441445.1:p.Gln555=
ENST00000537245.6:c.1568_1594delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000439625.2:p.Gln523=
ENST00000673471.2:c.1754_1780delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000500749.1:p.Gln585=
ENST00000674685.1:n.490_516delinsAGCGGCTCACCAAGTACCCGCTGCTGC
ENST00000674790.1:c.*1669_*1695delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000502815.1:n.*1669_*1695delinsAGCGGCTCACCAAGTACCCGCTGC...
ENST00000674943.1:n.119_145delinsAGCGGCTCACCAAGTACCCGCTGCTGC
ENST00000675123.1:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000502132.1:p.Gln486=
ENST00000675548.1:c.*1285_*1311delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000502684.1:n.*1285_*1311delinsAGCGGCTCACCAAGTACCCGCTGC...
ENST00000675694.1:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000501925.1:p.Gln486=
ENST00000340850.9:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000344570.5:p.Gln486=
ENST00000377725.5:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000366954.1:p.Gln486=
ENST00000377728.7:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000366957.3:p.Gln486=
ENST00000377732.5:c.1568_1594delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000366961.1:p.Gln523=
ENST00000377740.4:c.1688_1714delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000366969.3:p.Gln563=
ENST00000377748.5:c.1688_1714delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000366977.1:p.Gln563=
ENST00000400913.5:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000383704.1:p.Gln486=
ENST00000400915.7:c.1625_1651delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000383706.3:p.Gln542=
ENST00000487949.4:n.659_685delinsAGCGGCTCACCAAGTACCCGCTGCTGC
ENST00000489097.5:n.1933_1959delinsAGCGGCTCACCAAGTACCCGCTGCTGC
ENST00000535355.5:c.1664_1690delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000441445.1:p.Gln555=
ENST00000537245.5:c.1694_1720delinsAGCGGCTCACCAAGTACCCGCTGCTGC ENSP00000439625.1:p.Gln565=
NM_001042663.1:c.1625_1651delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001036128.1:p.Gln542=
NM_001042664.1:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001036129.1:p.Gln486=
NM_001042665.1:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001036130.1:p.Gln486=
NM_001265592.1:c.1694_1720delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001252521.1:p.Gln565=
NM_001265593.1:c.1664_1690delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001252522.1:p.Gln555=
NM_001265594.1:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001252523.1:p.Gln486=
NM_020631.4:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_065682.2:p.Gln486=
NM_198681.3:c.1688_1714delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_941374.2:p.Gln563=
NM_001042663.2:c.1625_1651delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001036128.1:p.Gln542=
NM_001265594.2:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001252523.1:p.Gln486=
NM_020631.5:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_065682.2:p.Gln486=
NM_001042663.3:c.1568_1594delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001036128.2:p.Gln523=
NM_001265592.2:c.1568_1594delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_001252521.2:p.Gln523=
NM_020631.6:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC MANE Select NP_065682.2:p.Gln486=
NM_198681.4:c.1457_1483delinsAGCGGCTCACCAAGTACCCGCTGCTGC NP_941374.3:p.Gln486=