Canonical Allele Identifier: CA998176730

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644545085
• gnomAD v3: 1-6470727-AG-A
• gnomAD v4: 1-6470727-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470730del , CM000663.2:g.6470730del	GRCh38
NC_000001.10:g.6530790del , CM000663.1:g.6530790del	GRCh37
NC_000001.9:g.6453377del	NCBI36
NG_007978.1:g.54282del , LRG_262:g.54282del
NG_029910.1:g.468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1542+7del	ENSP00000344570.5:n.1542+7del
ENST00000377728.8:c.1542+7del MANE Select	ENSP00000366957.3:n.1542+7del
ENST00000377740.5:c.1542+7del	ENSP00000366969.4:n.1542+7del
ENST00000377748.6:c.1716+7del	ENSP00000366977.2:n.1716+7del
ENST00000400913.6:c.1542+7del	ENSP00000383704.1:n.1542+7del
ENST00000400915.8:c.1653+7del	ENSP00000383706.4:n.1653+7del
ENST00000489097.6:n.2018+7del
ENST00000535355.6:c.1749+7del	ENSP00000441445.1:n.1749+7del
ENST00000537245.6:c.1653+7del	ENSP00000439625.2:n.1653+7del
ENST00000673471.2:c.1839+7del	ENSP00000500749.1:n.1839+7del
ENST00000674685.1:n.575+7del
ENST00000674790.1:c.*1754+7del	ENSP00000502815.1:n.*1754+7del
ENST00000674943.1:n.204+7del
ENST00000675123.1:c.1542+7del	ENSP00000502132.1:n.1542+7del
ENST00000675548.1:c.*1370+7del	ENSP00000502684.1:n.*1370+7del
ENST00000675694.1:c.1542+7del	ENSP00000501925.1:n.1542+7del
ENST00000676401.1:n.5del
ENST00000340850.9:c.1542+7del	ENSP00000344570.5:n.1542+7del
ENST00000377725.5:c.1542+7del	ENSP00000366954.1:n.1542+7del
ENST00000377728.7:c.1542+7del	ENSP00000366957.3:n.1542+7del
ENST00000377732.5:c.1653+7del	ENSP00000366961.1:n.1653+7del
ENST00000377740.4:c.1773+7del	ENSP00000366969.3:n.1773+7del
ENST00000377748.5:c.1773+7del	ENSP00000366977.1:n.1773+7del
ENST00000400913.5:c.1542+7del	ENSP00000383704.1:n.1542+7del
ENST00000400915.7:c.1710+7del	ENSP00000383706.3:n.1710+7del
ENST00000487949.4:n.744+7del
ENST00000489097.5:n.2018+7del
ENST00000535355.5:c.1749+7del	ENSP00000441445.1:n.1749+7del
ENST00000537245.5:c.1779+7del	ENSP00000439625.1:n.1779+7del
NM_001042663.1:c.1710+7del	NP_001036128.1:n.1710+7del
NM_001042664.1:c.1542+7del	NP_001036129.1:n.1542+7del
NM_001042665.1:c.1542+7del	NP_001036130.1:n.1542+7del
NM_001265592.1:c.1779+7del	NP_001252521.1:n.1779+7del
NM_001265593.1:c.1749+7del	NP_001252522.1:n.1749+7del
NM_001265594.1:c.1542+7del	NP_001252523.1:n.1542+7del
NM_020631.4:c.1542+7del	NP_065682.2:n.1542+7del
NM_198681.3:c.1773+7del	NP_941374.2:n.1773+7del
NM_001042663.2:c.1710+7del	NP_001036128.1:n.1710+7del
NM_001265594.2:c.1542+7del	NP_001252523.1:n.1542+7del
NM_020631.5:c.1542+7del	NP_065682.2:n.1542+7del
NM_001042663.3:c.1653+7del	NP_001036128.2:n.1653+7del
NM_001265592.2:c.1653+7del	NP_001252521.2:n.1653+7del
NM_020631.6:c.1542+7del MANE Select	NP_065682.2:n.1542+7del
NM_198681.4:c.1542+7del	NP_941374.3:n.1542+7del