Canonical Allele Identifier: CA998179388

Gene: PLEKHG5

Linked Data

• gnomAD v3: 1-6474702-CAA-C
• gnomAD v4: 1-6474702-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474703_6474704del , CM000663.2:g.6474703_6474704del	GRCh38
NC_000001.10:g.6534763_6534764del , CM000663.1:g.6534763_6534764del	GRCh37
NC_000001.9:g.6457350_6457351del	NCBI36
NG_007978.1:g.50306_50307del , LRG_262:g.50306_50307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.303-117_303-116del	ENSP00000344570.5:n.303-117_303-116del
ENST00000377728.8:c.303-117_303-116del MANE Select	ENSP00000366957.3:n.303-117_303-116del
ENST00000377740.5:c.303-117_303-116del	ENSP00000366969.4:n.303-117_303-116del
ENST00000377748.6:c.477-117_477-116del	ENSP00000366977.2:n.477-117_477-116del
ENST00000400913.6:c.303-117_303-116del	ENSP00000383704.1:n.303-117_303-116del
ENST00000400915.8:c.414-117_414-116del	ENSP00000383706.4:n.414-117_414-116del
ENST00000489097.6:n.662_663del
ENST00000535355.6:c.510-117_510-116del	ENSP00000441445.1:n.510-117_510-116del
ENST00000537245.6:c.414-117_414-116del	ENSP00000439625.2:n.414-117_414-116del
ENST00000673471.2:c.600-117_600-116del	ENSP00000500749.1:n.600-117_600-116del
ENST00000674790.1:c.*515-117_*515-116del	ENSP00000502815.1:n.*515-117_*515-116del
ENST00000675093.1:c.303-117_303-116del	ENSP00000502687.1:n.303-117_303-116del
ENST00000675123.1:c.303-117_303-116del	ENSP00000502132.1:n.303-117_303-116del
ENST00000675548.1:c.*131-117_*131-116del	ENSP00000502684.1:n.*131-117_*131-116del
ENST00000675694.1:c.303-117_303-116del	ENSP00000501925.1:n.303-117_303-116del
ENST00000676255.1:c.257_258del	ENSP00000502459.1:n.257_258del
ENST00000676287.1:c.303-117_303-116del	ENSP00000502810.1:n.303-117_303-116del
ENST00000340850.9:c.303-117_303-116del	ENSP00000344570.5:n.303-117_303-116del
ENST00000377725.5:c.303-117_303-116del	ENSP00000366954.1:n.303-117_303-116del
ENST00000377728.7:c.303-117_303-116del	ENSP00000366957.3:n.303-117_303-116del
ENST00000377732.5:c.414-117_414-116del	ENSP00000366961.1:n.414-117_414-116del
ENST00000377740.4:c.534-117_534-116del	ENSP00000366969.3:n.534-117_534-116del
ENST00000377748.5:c.534-117_534-116del	ENSP00000366977.1:n.534-117_534-116del
ENST00000400913.5:c.303-117_303-116del	ENSP00000383704.1:n.303-117_303-116del
ENST00000400915.7:c.471-117_471-116del	ENSP00000383706.3:n.471-117_471-116del
ENST00000489097.5:n.662_663del
ENST00000535355.5:c.510-117_510-116del	ENSP00000441445.1:n.510-117_510-116del
ENST00000537245.5:c.540-117_540-116del	ENSP00000439625.1:n.540-117_540-116del
NM_001042663.1:c.471-117_471-116del	NP_001036128.1:n.471-117_471-116del
NM_001042664.1:c.303-117_303-116del	NP_001036129.1:n.303-117_303-116del
NM_001042665.1:c.303-117_303-116del	NP_001036130.1:n.303-117_303-116del
NM_001265592.1:c.540-117_540-116del	NP_001252521.1:n.540-117_540-116del
NM_001265593.1:c.510-117_510-116del	NP_001252522.1:n.510-117_510-116del
NM_001265594.1:c.303-117_303-116del	NP_001252523.1:n.303-117_303-116del
NM_020631.4:c.303-117_303-116del	NP_065682.2:n.303-117_303-116del
NM_198681.3:c.534-117_534-116del	NP_941374.2:n.534-117_534-116del
NM_001042663.2:c.471-117_471-116del	NP_001036128.1:n.471-117_471-116del
NM_001265594.2:c.303-117_303-116del	NP_001252523.1:n.303-117_303-116del
NM_020631.5:c.303-117_303-116del	NP_065682.2:n.303-117_303-116del
NM_001042663.3:c.414-117_414-116del	NP_001036128.2:n.414-117_414-116del
NM_001265592.2:c.414-117_414-116del	NP_001252521.2:n.414-117_414-116del
NM_020631.6:c.303-117_303-116del MANE Select	NP_065682.2:n.303-117_303-116del
NM_198681.4:c.303-117_303-116del	NP_941374.3:n.303-117_303-116del