Canonical Allele Identifier: CA561526

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 670557
• ClinVar RCV Id: RCV000829712 ; RCV001789374 ; RCV001789375
• dbSNP Id: rs111312565
• ExAC: 1:6530965 C / CG
• gnomAD v2: 1-6530965-C-CG
• gnomAD v3: 1-6470905-C-CG
• gnomAD v4: 1-6470905-C-CG
• MyVariant Identifiers: chr1:g.6530965_6530966insG (hg19) ; chr1:g.6470905_6470906insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470908dup , CM000663.2:g.6470908dup	GRCh38
NC_000001.10:g.6530968dup , CM000663.1:g.6530968dup	GRCh37
NC_000001.9:g.6453555dup	NCBI36
NG_007978.1:g.54104dup , LRG_262:g.54104dup
NG_029910.1:g.290dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.1393-22dup	ENSP00000344570.5:n.1393-22dup
ENST00000377728.8:c.1393-22dup MANE Select	ENSP00000366957.3:n.1393-22dup
ENST00000377740.5:c.1393-22dup	ENSP00000366969.4:n.1393-22dup
ENST00000377748.6:c.1567-22dup	ENSP00000366977.2:n.1567-22dup
ENST00000400913.6:c.1393-22dup	ENSP00000383704.1:n.1393-22dup
ENST00000400915.8:c.1504-22dup	ENSP00000383706.4:n.1504-22dup
ENST00000489097.6:n.1869-22dup
ENST00000535355.6:c.1600-22dup	ENSP00000441445.1:n.1600-22dup
ENST00000537245.6:c.1504-22dup	ENSP00000439625.2:n.1504-22dup
ENST00000673471.2:c.1690-22dup	ENSP00000500749.1:n.1690-22dup
ENST00000674685.1:n.426-22dup
ENST00000674790.1:c.*1605-22dup	ENSP00000502815.1:n.*1605-22dup
ENST00000674943.1:n.33dup
ENST00000675123.1:c.1393-22dup	ENSP00000502132.1:n.1393-22dup
ENST00000675548.1:c.*1221-22dup	ENSP00000502684.1:n.*1221-22dup
ENST00000675694.1:c.1393-22dup	ENSP00000501925.1:n.1393-22dup
ENST00000340850.9:c.1393-22dup	ENSP00000344570.5:n.1393-22dup
ENST00000377725.5:c.1393-22dup	ENSP00000366954.1:n.1393-22dup
ENST00000377728.7:c.1393-22dup	ENSP00000366957.3:n.1393-22dup
ENST00000377732.5:c.1504-22dup	ENSP00000366961.1:n.1504-22dup
ENST00000377740.4:c.1624-22dup	ENSP00000366969.3:n.1624-22dup
ENST00000377748.5:c.1624-22dup	ENSP00000366977.1:n.1624-22dup
ENST00000400913.5:c.1393-22dup	ENSP00000383704.1:n.1393-22dup
ENST00000400915.7:c.1561-22dup	ENSP00000383706.3:n.1561-22dup
ENST00000487949.4:n.595-22dup
ENST00000489097.5:n.1869-22dup
ENST00000535355.5:c.1600-22dup	ENSP00000441445.1:n.1600-22dup
ENST00000537245.5:c.1630-22dup	ENSP00000439625.1:n.1630-22dup
NM_001042663.1:c.1561-22dup	NP_001036128.1:n.1561-22dup
NM_001042664.1:c.1393-22dup	NP_001036129.1:n.1393-22dup
NM_001042665.1:c.1393-22dup	NP_001036130.1:n.1393-22dup
NM_001265592.1:c.1630-22dup	NP_001252521.1:n.1630-22dup
NM_001265593.1:c.1600-22dup	NP_001252522.1:n.1600-22dup
NM_001265594.1:c.1393-22dup	NP_001252523.1:n.1393-22dup
NM_020631.4:c.1393-22dup	NP_065682.2:n.1393-22dup
NM_198681.3:c.1624-22dup	NP_941374.2:n.1624-22dup
NM_001042663.2:c.1561-22dup	NP_001036128.1:n.1561-22dup
NM_001265594.2:c.1393-22dup	NP_001252523.1:n.1393-22dup
NM_020631.5:c.1393-22dup	NP_065682.2:n.1393-22dup
NM_001042663.3:c.1504-22dup	NP_001036128.2:n.1504-22dup
NM_001265592.2:c.1504-22dup	NP_001252521.2:n.1504-22dup
NM_020631.6:c.1393-22dup MANE Select	NP_065682.2:n.1393-22dup
NM_198681.4:c.1393-22dup	NP_941374.3:n.1393-22dup