Canonical Allele Identifier: CA2642980904

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474815-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474816dup , CM000663.2:g.6474816dup	GRCh38
NC_000001.10:g.6534876dup , CM000663.1:g.6534876dup	GRCh37
NC_000001.9:g.6457463dup	NCBI36
NG_007978.1:g.50194dup , LRG_262:g.50194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.303-229dup	ENSP00000344570.5:n.303-229dup
ENST00000377728.8:c.303-229dup MANE Select	ENSP00000366957.3:n.303-229dup
ENST00000377740.5:c.303-229dup	ENSP00000366969.4:n.303-229dup
ENST00000377748.6:c.477-229dup	ENSP00000366977.2:n.477-229dup
ENST00000400913.6:c.303-229dup	ENSP00000383704.1:n.303-229dup
ENST00000400915.8:c.414-229dup	ENSP00000383706.4:n.414-229dup
ENST00000489097.6:n.550dup
ENST00000535355.6:c.510-229dup	ENSP00000441445.1:n.510-229dup
ENST00000537245.6:c.414-229dup	ENSP00000439625.2:n.414-229dup
ENST00000673471.2:c.600-229dup	ENSP00000500749.1:n.600-229dup
ENST00000674790.1:c.*515-229dup	ENSP00000502815.1:n.*515-229dup
ENST00000675093.1:c.303-229dup	ENSP00000502687.1:n.303-229dup
ENST00000675123.1:c.303-229dup	ENSP00000502132.1:n.303-229dup
ENST00000675548.1:c.*131-229dup	ENSP00000502684.1:n.*131-229dup
ENST00000675694.1:c.303-229dup	ENSP00000501925.1:n.303-229dup
ENST00000676255.1:c.145dup	ENSP00000502459.1:p.Trp49LeufsTer17
ENST00000676287.1:c.303-229dup	ENSP00000502810.1:n.303-229dup
ENST00000340850.9:c.303-229dup	ENSP00000344570.5:n.303-229dup
ENST00000377725.5:c.303-229dup	ENSP00000366954.1:n.303-229dup
ENST00000377728.7:c.303-229dup	ENSP00000366957.3:n.303-229dup
ENST00000377732.5:c.414-229dup	ENSP00000366961.1:n.414-229dup
ENST00000377740.4:c.534-229dup	ENSP00000366969.3:n.534-229dup
ENST00000377748.5:c.534-229dup	ENSP00000366977.1:n.534-229dup
ENST00000400913.5:c.303-229dup	ENSP00000383704.1:n.303-229dup
ENST00000400915.7:c.471-229dup	ENSP00000383706.3:n.471-229dup
ENST00000489097.5:n.550dup
ENST00000535355.5:c.510-229dup	ENSP00000441445.1:n.510-229dup
ENST00000537245.5:c.540-229dup	ENSP00000439625.1:n.540-229dup
NM_001042663.1:c.471-229dup	NP_001036128.1:n.471-229dup
NM_001042664.1:c.303-229dup	NP_001036129.1:n.303-229dup
NM_001042665.1:c.303-229dup	NP_001036130.1:n.303-229dup
NM_001265592.1:c.540-229dup	NP_001252521.1:n.540-229dup
NM_001265593.1:c.510-229dup	NP_001252522.1:n.510-229dup
NM_001265594.1:c.303-229dup	NP_001252523.1:n.303-229dup
NM_020631.4:c.303-229dup	NP_065682.2:n.303-229dup
NM_198681.3:c.534-229dup	NP_941374.2:n.534-229dup
NM_001042663.2:c.471-229dup	NP_001036128.1:n.471-229dup
NM_001265594.2:c.303-229dup	NP_001252523.1:n.303-229dup
NM_020631.5:c.303-229dup	NP_065682.2:n.303-229dup
NM_001042663.3:c.414-229dup	NP_001036128.2:n.414-229dup
NM_001265592.2:c.414-229dup	NP_001252521.2:n.414-229dup
NM_020631.6:c.303-229dup MANE Select	NP_065682.2:n.303-229dup
NM_198681.4:c.303-229dup	NP_941374.3:n.303-229dup