Canonical Allele Identifier: CA2642988584

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2946537
• ClinVar RCV Id: RCV003808775
• gnomAD v4: 1-6477533-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477538dup , CM000663.2:g.6477538dup	GRCh38
NC_000001.10:g.6537598dup , CM000663.1:g.6537598dup	GRCh37
NC_000001.9:g.6460185dup	NCBI36
NG_007978.1:g.47476dup , LRG_262:g.47476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.38dup	ENSP00000344570.5:p.Gln14ThrfsTer?
ENST00000377728.8:c.38dup MANE Select	ENSP00000366957.3:p.Gln14ThrfsTer?
ENST00000377740.5:c.38dup	ENSP00000366969.4:p.Gln14ThrfsTer?
ENST00000377748.6:c.149dup	ENSP00000366977.2:p.Gln51ThrfsTer?
ENST00000400913.6:c.38dup	ENSP00000383704.1:p.Gln14ThrfsTer?
ENST00000400915.8:c.149dup	ENSP00000383706.4:p.Gln51ThrfsTer?
ENST00000489097.6:n.55dup
ENST00000535355.6:c.245dup	ENSP00000441445.1:p.Gln83ThrfsTer?
ENST00000537245.6:c.149dup	ENSP00000439625.2:p.Gln51ThrfsTer?
ENST00000673471.2:c.335dup	ENSP00000500749.1:p.Gln113ThrfsTer?
ENST00000674790.1:c.*250dup	ENSP00000502815.1:n.*250dup
ENST00000674803.1:n.268dup
ENST00000675093.1:c.38dup	ENSP00000502687.1:p.Gln14ThrfsTer?
ENST00000675123.1:c.38dup	ENSP00000502132.1:p.Gln14ThrfsTer?
ENST00000675548.1:c.223dup	ENSP00000502684.1:p.His75ProfsTer?
ENST00000675655.1:n.244dup
ENST00000675694.1:c.38dup	ENSP00000501925.1:p.Gln14ThrfsTer?
ENST00000676287.1:c.38dup	ENSP00000502810.1:p.Gln14ThrfsTer?
ENST00000676362.1:n.261dup
ENST00000340850.9:c.38dup	ENSP00000344570.5:p.Gln14ThrfsTer?
ENST00000377725.5:c.38dup	ENSP00000366954.1:p.Gln14ThrfsTer?
ENST00000377728.7:c.38dup	ENSP00000366957.3:p.Gln14ThrfsTer?
ENST00000377732.5:c.149dup	ENSP00000366961.1:p.Gln51ThrfsTer?
ENST00000377740.4:c.269dup	ENSP00000366969.3:p.Gln91ThrfsTer?
ENST00000377748.5:c.269dup	ENSP00000366977.1:p.Gln91ThrfsTer?
ENST00000400913.5:c.38dup	ENSP00000383704.1:p.Gln14ThrfsTer?
ENST00000400915.7:c.206dup	ENSP00000383706.3:p.Gln70ThrfsTer?
ENST00000489097.5:n.55dup
ENST00000535355.5:c.245dup	ENSP00000441445.1:p.Gln83ThrfsTer?
ENST00000537245.5:c.275dup	ENSP00000439625.1:p.Gln93ThrfsTer?
NM_001042663.1:c.206dup	NP_001036128.1:p.Gln70ThrfsTer?
NM_001042664.1:c.38dup	NP_001036129.1:p.Gln14ThrfsTer?
NM_001042665.1:c.38dup	NP_001036130.1:p.Gln14ThrfsTer?
NM_001265592.1:c.275dup	NP_001252521.1:p.Gln93ThrfsTer?
NM_001265593.1:c.245dup	NP_001252522.1:p.Gln83ThrfsTer?
NM_001265594.1:c.38dup	NP_001252523.1:p.Gln14ThrfsTer?
NM_020631.4:c.38dup	NP_065682.2:p.Gln14ThrfsTer?
NM_198681.3:c.269dup	NP_941374.2:p.Gln91ThrfsTer?
NM_001042663.2:c.206dup	NP_001036128.1:p.Gln70ThrfsTer?
NM_001265594.2:c.38dup	NP_001252523.1:p.Gln14ThrfsTer?
NM_020631.5:c.38dup	NP_065682.2:p.Gln14ThrfsTer?
NM_001042663.3:c.149dup	NP_001036128.2:p.Gln51ThrfsTer?
NM_001265592.2:c.149dup	NP_001252521.2:p.Gln51ThrfsTer?
NM_020631.6:c.38dup MANE Select	NP_065682.2:p.Gln14ThrfsTer?
NM_198681.4:c.38dup	NP_941374.3:p.Gln14ThrfsTer?