Canonical Allele Identifier: CA1139769813

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6470932-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470933_6470934del , CM000663.2:g.6470933_6470934del	GRCh38
NC_000001.10:g.6530993_6530994del , CM000663.1:g.6530993_6530994del	GRCh37
NC_000001.9:g.6453580_6453581del	NCBI36
NG_007978.1:g.54076_54077del , LRG_262:g.54076_54077del
NG_029910.1:g.262_263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1393-50_1393-49del	ENSP00000344570.5:n.1393-50_1393-49del
ENST00000377728.8:c.1393-50_1393-49del MANE Select	ENSP00000366957.3:n.1393-50_1393-49del
ENST00000377740.5:c.1393-50_1393-49del	ENSP00000366969.4:n.1393-50_1393-49del
ENST00000377748.6:c.1567-50_1567-49del	ENSP00000366977.2:n.1567-50_1567-49del
ENST00000400913.6:c.1393-50_1393-49del	ENSP00000383704.1:n.1393-50_1393-49del
ENST00000400915.8:c.1504-50_1504-49del	ENSP00000383706.4:n.1504-50_1504-49del
ENST00000489097.6:n.1869-50_1869-49del
ENST00000535355.6:c.1600-50_1600-49del	ENSP00000441445.1:n.1600-50_1600-49del
ENST00000537245.6:c.1504-50_1504-49del	ENSP00000439625.2:n.1504-50_1504-49del
ENST00000673471.2:c.1690-50_1690-49del	ENSP00000500749.1:n.1690-50_1690-49del
ENST00000674685.1:n.426-50_426-49del
ENST00000674790.1:c.*1605-50_*1605-49del	ENSP00000502815.1:n.*1605-50_*1605-49del
ENST00000674943.1:n.5_6del
ENST00000675123.1:c.1393-50_1393-49del	ENSP00000502132.1:n.1393-50_1393-49del
ENST00000675548.1:c.*1221-50_*1221-49del	ENSP00000502684.1:n.*1221-50_*1221-49del
ENST00000675694.1:c.1393-50_1393-49del	ENSP00000501925.1:n.1393-50_1393-49del
ENST00000340850.9:c.1393-50_1393-49del	ENSP00000344570.5:n.1393-50_1393-49del
ENST00000377725.5:c.1393-50_1393-49del	ENSP00000366954.1:n.1393-50_1393-49del
ENST00000377728.7:c.1393-50_1393-49del	ENSP00000366957.3:n.1393-50_1393-49del
ENST00000377732.5:c.1504-50_1504-49del	ENSP00000366961.1:n.1504-50_1504-49del
ENST00000377740.4:c.1624-50_1624-49del	ENSP00000366969.3:n.1624-50_1624-49del
ENST00000377748.5:c.1624-50_1624-49del	ENSP00000366977.1:n.1624-50_1624-49del
ENST00000400913.5:c.1393-50_1393-49del	ENSP00000383704.1:n.1393-50_1393-49del
ENST00000400915.7:c.1561-50_1561-49del	ENSP00000383706.3:n.1561-50_1561-49del
ENST00000487949.4:n.595-50_595-49del
ENST00000489097.5:n.1869-50_1869-49del
ENST00000535355.5:c.1600-50_1600-49del	ENSP00000441445.1:n.1600-50_1600-49del
ENST00000537245.5:c.1630-50_1630-49del	ENSP00000439625.1:n.1630-50_1630-49del
NM_001042663.1:c.1561-50_1561-49del	NP_001036128.1:n.1561-50_1561-49del
NM_001042664.1:c.1393-50_1393-49del	NP_001036129.1:n.1393-50_1393-49del
NM_001042665.1:c.1393-50_1393-49del	NP_001036130.1:n.1393-50_1393-49del
NM_001265592.1:c.1630-50_1630-49del	NP_001252521.1:n.1630-50_1630-49del
NM_001265593.1:c.1600-50_1600-49del	NP_001252522.1:n.1600-50_1600-49del
NM_001265594.1:c.1393-50_1393-49del	NP_001252523.1:n.1393-50_1393-49del
NM_020631.4:c.1393-50_1393-49del	NP_065682.2:n.1393-50_1393-49del
NM_198681.3:c.1624-50_1624-49del	NP_941374.2:n.1624-50_1624-49del
NM_001042663.2:c.1561-50_1561-49del	NP_001036128.1:n.1561-50_1561-49del
NM_001265594.2:c.1393-50_1393-49del	NP_001252523.1:n.1393-50_1393-49del
NM_020631.5:c.1393-50_1393-49del	NP_065682.2:n.1393-50_1393-49del
NM_001042663.3:c.1504-50_1504-49del	NP_001036128.2:n.1504-50_1504-49del
NM_001265592.2:c.1504-50_1504-49del	NP_001252521.2:n.1504-50_1504-49del
NM_020631.6:c.1393-50_1393-49del MANE Select	NP_065682.2:n.1393-50_1393-49del
NM_198681.4:c.1393-50_1393-49del	NP_941374.3:n.1393-50_1393-49del