Canonical Allele Identifier: CA416022085

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6468413-AC-A
• MyVariant Identifiers: chr1:g.6528474del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468415del , CM000663.2:g.6468415del	GRCh38
NC_000001.10:g.6528475del , CM000663.1:g.6528475del	GRCh37
NC_000001.9:g.6451062del	NCBI36
NG_007978.1:g.56596del , LRG_262:g.56596del
NG_029910.1:g.2782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2422del	ENSP00000344570.5:p.Val808TrpfsTer?
ENST00000377728.8:c.2422del MANE Select	ENSP00000366957.3:p.Val808TrpfsTer?
ENST00000377740.5:c.2422del	ENSP00000366969.4:p.Val808TrpfsTer?
ENST00000377748.6:c.2596del	ENSP00000366977.2:p.Val866TrpfsTer?
ENST00000400913.6:c.2422del	ENSP00000383704.1:p.Val808TrpfsTer?
ENST00000400915.8:c.2533del	ENSP00000383706.4:p.Val845TrpfsTer?
ENST00000489097.6:n.2898del
ENST00000535355.6:c.2629del	ENSP00000441445.1:p.Val877TrpfsTer?
ENST00000537245.6:c.2533del	ENSP00000439625.2:p.Val845TrpfsTer?
ENST00000673471.2:c.2719del	ENSP00000500749.1:p.Val907TrpfsTer?
ENST00000674790.1:c.*2634del	ENSP00000502815.1:n.*2634del
ENST00000675123.1:c.2250-521del	ENSP00000502132.1:n.2250-521del
ENST00000675548.1:c.*2250del	ENSP00000502684.1:n.*2250del
ENST00000675694.1:c.2422del	ENSP00000501925.1:p.Val808TrpfsTer?
ENST00000675976.1:c.295del	ENSP00000501611.1:p.Val99TrpfsTer?
ENST00000340850.9:c.2422del	ENSP00000344570.5:p.Val808TrpfsTer?
ENST00000377725.5:c.2422del	ENSP00000366954.1:p.Val808TrpfsTer?
ENST00000377728.7:c.2422del	ENSP00000366957.3:p.Val808TrpfsTer?
ENST00000377732.5:c.2533del	ENSP00000366961.1:p.Val845TrpfsTer?
ENST00000377740.4:c.2481-521del	ENSP00000366969.3:n.2481-521del
ENST00000377748.5:c.2653del	ENSP00000366977.1:p.Val885TrpfsTer?
ENST00000400913.5:c.2422del	ENSP00000383704.1:p.Val808TrpfsTer?
ENST00000400915.7:c.2590del	ENSP00000383706.3:p.Val864TrpfsTer?
ENST00000487949.4:n.1624del
ENST00000489097.5:n.2898del
ENST00000535355.5:c.2629del	ENSP00000441445.1:p.Val877TrpfsTer?
ENST00000537245.5:c.2659del	ENSP00000439625.1:p.Val887TrpfsTer?
NM_001042663.1:c.2590del	NP_001036128.1:p.Val864TrpfsTer?
NM_001042664.1:c.2422del	NP_001036129.1:p.Val808TrpfsTer?
NM_001042665.1:c.2422del	NP_001036130.1:p.Val808TrpfsTer?
NM_001265592.1:c.2659del	NP_001252521.1:p.Val887TrpfsTer?
NM_001265593.1:c.2629del	NP_001252522.1:p.Val877TrpfsTer?
NM_001265594.1:c.2422del	NP_001252523.1:p.Val808TrpfsTer?
NM_020631.4:c.2422del	NP_065682.2:p.Val808TrpfsTer?
NM_198681.3:c.2653del	NP_941374.2:p.Val885TrpfsTer?
NM_001042663.2:c.2590del	NP_001036128.1:p.Val864TrpfsTer?
NM_001265594.2:c.2422del	NP_001252523.1:p.Val808TrpfsTer?
NM_020631.5:c.2422del	NP_065682.2:p.Val808TrpfsTer?
NM_001042663.3:c.2533del	NP_001036128.2:p.Val845TrpfsTer?
NM_001265592.2:c.2533del	NP_001252521.2:p.Val845TrpfsTer?
NM_020631.6:c.2422del MANE Select	NP_065682.2:p.Val808TrpfsTer?
NM_198681.4:c.2422del	NP_941374.3:p.Val808TrpfsTer?