Canonical Allele Identifier: CA1151505947

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474097_6474099delinsCAA , CM000663.2:g.6474097_6474099delinsCAA	GRCh38
NC_000001.10:g.6534157_6534159delinsCAA , CM000663.1:g.6534157_6534159delinsCAA	GRCh37
NC_000001.9:g.6456744_6456746delinsCAA	NCBI36
NG_007978.1:g.50911_50913delinsTTG , LRG_262:g.50911_50913delinsTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.505_507delinsTTG	ENSP00000344570.5:p.Leu169=
ENST00000377728.8:c.505_507delinsTTG MANE Select	ENSP00000366957.3:p.Leu169=
ENST00000377740.5:c.505_507delinsTTG	ENSP00000366969.4:p.Leu169=
ENST00000377748.6:c.679_681delinsTTG	ENSP00000366977.2:p.Leu227=
ENST00000400913.6:c.505_507delinsTTG	ENSP00000383704.1:p.Leu169=
ENST00000400915.8:c.616_618delinsTTG	ENSP00000383706.4:p.Leu206=
ENST00000489097.6:n.981_983delinsTTG
ENST00000535355.6:c.712_714delinsTTG	ENSP00000441445.1:p.Leu238=
ENST00000537245.6:c.616_618delinsTTG	ENSP00000439625.2:p.Leu206=
ENST00000673471.2:c.802_804delinsTTG	ENSP00000500749.1:p.Leu268=
ENST00000674790.1:c.*717_*719delinsTTG	ENSP00000502815.1:n.*717_*719delinsTTG
ENST00000675123.1:c.505_507delinsTTG	ENSP00000502132.1:p.Leu169=
ENST00000675548.1:c.*333_*335delinsTTG	ENSP00000502684.1:n.*333_*335delinsTTG
ENST00000675694.1:c.505_507delinsTTG	ENSP00000501925.1:p.Leu169=
ENST00000340850.9:c.505_507delinsTTG	ENSP00000344570.5:p.Leu169=
ENST00000377725.5:c.505_507delinsTTG	ENSP00000366954.1:p.Leu169=
ENST00000377728.7:c.505_507delinsTTG	ENSP00000366957.3:p.Leu169=
ENST00000377732.5:c.616_618delinsTTG	ENSP00000366961.1:p.Leu206=
ENST00000377740.4:c.736_738delinsTTG	ENSP00000366969.3:p.Leu246=
ENST00000377748.5:c.736_738delinsTTG	ENSP00000366977.1:p.Leu246=
ENST00000400913.5:c.505_507delinsTTG	ENSP00000383704.1:p.Leu169=
ENST00000400915.7:c.673_675delinsTTG	ENSP00000383706.3:p.Leu225=
ENST00000489097.5:n.981_983delinsTTG
ENST00000535355.5:c.712_714delinsTTG	ENSP00000441445.1:p.Leu238=
ENST00000537245.5:c.742_744delinsTTG	ENSP00000439625.1:p.Leu248=
NM_001042663.1:c.673_675delinsTTG	NP_001036128.1:p.Leu225=
NM_001042664.1:c.505_507delinsTTG	NP_001036129.1:p.Leu169=
NM_001042665.1:c.505_507delinsTTG	NP_001036130.1:p.Leu169=
NM_001265592.1:c.742_744delinsTTG	NP_001252521.1:p.Leu248=
NM_001265593.1:c.712_714delinsTTG	NP_001252522.1:p.Leu238=
NM_001265594.1:c.505_507delinsTTG	NP_001252523.1:p.Leu169=
NM_020631.4:c.505_507delinsTTG	NP_065682.2:p.Leu169=
NM_198681.3:c.736_738delinsTTG	NP_941374.2:p.Leu246=
NM_001042663.2:c.673_675delinsTTG	NP_001036128.1:p.Leu225=
NM_001265594.2:c.505_507delinsTTG	NP_001252523.1:p.Leu169=
NM_020631.5:c.505_507delinsTTG	NP_065682.2:p.Leu169=
NM_001042663.3:c.616_618delinsTTG	NP_001036128.2:p.Leu206=
NM_001265592.2:c.616_618delinsTTG	NP_001252521.2:p.Leu206=
NM_020631.6:c.505_507delinsTTG MANE Select	NP_065682.2:p.Leu169=
NM_198681.4:c.505_507delinsTTG	NP_941374.3:p.Leu169=