Canonical Allele Identifier: CA998180838

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644797713
• gnomAD v3: 1-6477612-AG-A
• gnomAD v4: 1-6477612-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477616del , CM000663.2:g.6477616del	GRCh38
NC_000001.10:g.6537676del , CM000663.1:g.6537676del	GRCh37
NC_000001.9:g.6460263del	NCBI36
NG_007978.1:g.47397del , LRG_262:g.47397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.-42del	ENSP00000344570.5:n.-42del
ENST00000377728.8:c.-42del MANE Select	ENSP00000366957.3:n.-42del
ENST00000377740.5:c.-42del	ENSP00000366969.4:n.-42del
ENST00000377748.6:c.70del	ENSP00000366977.2:p.Leu24SerfsTer?
ENST00000400913.6:c.-42del	ENSP00000383704.1:n.-42del
ENST00000400915.8:c.70del	ENSP00000383706.4:p.Leu24SerfsTer?
ENST00000535355.6:c.166del	ENSP00000441445.1:p.Leu56SerfsTer?
ENST00000537245.6:c.70del	ENSP00000439625.2:p.Leu24SerfsTer?
ENST00000673471.2:c.256del	ENSP00000500749.1:p.Leu86SerfsTer?
ENST00000674790.1:c.*171del	ENSP00000502815.1:n.*171del
ENST00000674803.1:n.189del
ENST00000675093.1:c.-42del	ENSP00000502687.1:n.-42del
ENST00000675123.1:c.-42del	ENSP00000502132.1:n.-42del
ENST00000675548.1:c.144del	ENSP00000502684.1:p.Ser49GlnfsTer7
ENST00000675655.1:n.165del
ENST00000675694.1:c.-42del	ENSP00000501925.1:n.-42del
ENST00000676287.1:c.-42del	ENSP00000502810.1:n.-42del
ENST00000676362.1:n.182del
ENST00000340850.9:c.-42del	ENSP00000344570.5:n.-42del
ENST00000377725.5:c.-42del	ENSP00000366954.1:n.-42del
ENST00000377728.7:c.-42del	ENSP00000366957.3:n.-42del
ENST00000377732.5:c.70del	ENSP00000366961.1:p.Leu24SerfsTer?
ENST00000377740.4:c.190del	ENSP00000366969.3:p.Leu64SerfsTer?
ENST00000377748.5:c.190del	ENSP00000366977.1:p.Leu64SerfsTer?
ENST00000400913.5:c.-42del	ENSP00000383704.1:n.-42del
ENST00000400915.7:c.127del	ENSP00000383706.3:p.Leu43SerfsTer?
ENST00000535355.5:c.166del	ENSP00000441445.1:p.Leu56SerfsTer?
ENST00000537245.5:c.196del	ENSP00000439625.1:p.Leu66SerfsTer?
NM_001042663.1:c.127del	NP_001036128.1:p.Leu43SerfsTer?
NM_001042664.1:c.-42del	NP_001036129.1:n.-42del
NM_001042665.1:c.-42del	NP_001036130.1:n.-42del
NM_001265592.1:c.196del	NP_001252521.1:p.Leu66SerfsTer?
NM_001265593.1:c.166del	NP_001252522.1:p.Leu56SerfsTer?
NM_001265594.1:c.-42del	NP_001252523.1:n.-42del
NM_020631.4:c.-42del	NP_065682.2:n.-42del
NM_198681.3:c.190del	NP_941374.2:p.Leu64SerfsTer?
NM_001042663.2:c.127del	NP_001036128.1:p.Leu43SerfsTer?
NM_001265594.2:c.-42del	NP_001252523.1:n.-42del
NM_020631.5:c.-42del	NP_065682.2:n.-42del
NM_001042663.3:c.70del	NP_001036128.2:p.Leu24SerfsTer?
NM_001265592.2:c.70del	NP_001252521.2:p.Leu24SerfsTer?
NM_020631.6:c.-42del MANE Select	NP_065682.2:n.-42del
NM_198681.4:c.-42del	NP_941374.3:n.-42del