Canonical Allele Identifier: CA1151503940
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6473352_6473360del , CM000663.2:g.6473352_6473360del GRCh38
NC_000001.10:g.6533412_6533420del , CM000663.1:g.6533412_6533420del GRCh37
NC_000001.9:g.6455999_6456007del NCBI36
NG_007978.1:g.51650_51658del , LRG_262:g.51650_51658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.686_694del ENSP00000344570.5:p.Pro229_Ser232delinsArg
ENST00000377728.8:c.686_694del MANE Select ENSP00000366957.3:p.Pro229_Ser232delinsArg
ENST00000377740.5:c.686_694del ENSP00000366969.4:p.Pro229_Ser232delinsArg
ENST00000377748.6:c.860_868del ENSP00000366977.2:p.Pro287_Ser290delinsArg
ENST00000400913.6:c.686_694del ENSP00000383704.1:p.Pro229_Ser232delinsArg
ENST00000400915.8:c.797_805del ENSP00000383706.4:p.Pro266_Ser269delinsArg
ENST00000489097.6:n.1162_1170del
ENST00000535355.6:c.893_901del ENSP00000441445.1:p.Pro298_Ser301delinsArg
ENST00000537245.6:c.797_805del ENSP00000439625.2:p.Pro266_Ser269delinsArg
ENST00000673471.2:c.983_991del ENSP00000500749.1:p.Pro328_Ser331delinsArg
ENST00000674790.1:c.*898_*906del ENSP00000502815.1:n.*898_*906del
ENST00000675123.1:c.686_694del ENSP00000502132.1:p.Pro229_Ser232delinsArg
ENST00000675548.1:c.*514_*522del ENSP00000502684.1:n.*514_*522del
ENST00000675694.1:c.686_694del ENSP00000501925.1:p.Pro229_Ser232delinsArg
ENST00000340850.9:c.686_694del ENSP00000344570.5:p.Pro229_Ser232delinsArg
ENST00000377725.5:c.686_694del ENSP00000366954.1:p.Pro229_Ser232delinsArg
ENST00000377728.7:c.686_694del ENSP00000366957.3:p.Pro229_Ser232delinsArg
ENST00000377732.5:c.797_805del ENSP00000366961.1:p.Pro266_Ser269delinsArg
ENST00000377740.4:c.917_925del ENSP00000366969.3:p.Pro306_Ser309delinsArg
ENST00000377748.5:c.917_925del ENSP00000366977.1:p.Pro306_Ser309delinsArg
ENST00000400913.5:c.686_694del ENSP00000383704.1:p.Pro229_Ser232delinsArg
ENST00000400915.7:c.854_862del ENSP00000383706.3:p.Pro285_Ser288delinsArg
ENST00000489097.5:n.1162_1170del
ENST00000535355.5:c.893_901del ENSP00000441445.1:p.Pro298_Ser301delinsArg
ENST00000537245.5:c.923_931del ENSP00000439625.1:p.Pro308_Ser311delinsArg
NM_001042663.1:c.854_862del NP_001036128.1:p.Pro285_Ser288delinsArg
NM_001042664.1:c.686_694del NP_001036129.1:p.Pro229_Ser232delinsArg
NM_001042665.1:c.686_694del NP_001036130.1:p.Pro229_Ser232delinsArg
NM_001265592.1:c.923_931del NP_001252521.1:p.Pro308_Ser311delinsArg
NM_001265593.1:c.893_901del NP_001252522.1:p.Pro298_Ser301delinsArg
NM_001265594.1:c.686_694del NP_001252523.1:p.Pro229_Ser232delinsArg
NM_020631.4:c.686_694del NP_065682.2:p.Pro229_Ser232delinsArg
NM_198681.3:c.917_925del NP_941374.2:p.Pro306_Ser309delinsArg
NM_001042663.2:c.854_862del NP_001036128.1:p.Pro285_Ser288delinsArg
NM_001265594.2:c.686_694del NP_001252523.1:p.Pro229_Ser232delinsArg
NM_020631.5:c.686_694del NP_065682.2:p.Pro229_Ser232delinsArg
NM_001042663.3:c.797_805del NP_001036128.2:p.Pro266_Ser269delinsArg
NM_001265592.2:c.797_805del NP_001252521.2:p.Pro266_Ser269delinsArg
NM_020631.6:c.686_694del MANE Select NP_065682.2:p.Pro229_Ser232delinsArg
NM_198681.4:c.686_694del NP_941374.3:p.Pro229_Ser232delinsArg