Canonical Allele Identifier: CA998179328

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs2148591847
• gnomAD v3: 1-6474687-CTG-C
• gnomAD v4: 1-6474687-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474688_6474689del , CM000663.2:g.6474688_6474689del	GRCh38
NC_000001.10:g.6534748_6534749del , CM000663.1:g.6534748_6534749del	GRCh37
NC_000001.9:g.6457335_6457336del	NCBI36
NG_007978.1:g.50321_50322del , LRG_262:g.50321_50322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.303-102_303-101del	ENSP00000344570.5:n.303-102_303-101del
ENST00000377728.8:c.303-102_303-101del MANE Select	ENSP00000366957.3:n.303-102_303-101del
ENST00000377740.5:c.303-102_303-101del	ENSP00000366969.4:n.303-102_303-101del
ENST00000377748.6:c.477-102_477-101del	ENSP00000366977.2:n.477-102_477-101del
ENST00000400913.6:c.303-102_303-101del	ENSP00000383704.1:n.303-102_303-101del
ENST00000400915.8:c.414-102_414-101del	ENSP00000383706.4:n.414-102_414-101del
ENST00000489097.6:n.677_678del
ENST00000535355.6:c.510-102_510-101del	ENSP00000441445.1:n.510-102_510-101del
ENST00000537245.6:c.414-102_414-101del	ENSP00000439625.2:n.414-102_414-101del
ENST00000673471.2:c.600-102_600-101del	ENSP00000500749.1:n.600-102_600-101del
ENST00000674790.1:c.*515-102_*515-101del	ENSP00000502815.1:n.*515-102_*515-101del
ENST00000675093.1:c.303-102_303-101del	ENSP00000502687.1:n.303-102_303-101del
ENST00000675123.1:c.303-102_303-101del	ENSP00000502132.1:n.303-102_303-101del
ENST00000675548.1:c.*131-102_*131-101del	ENSP00000502684.1:n.*131-102_*131-101del
ENST00000675694.1:c.303-102_303-101del	ENSP00000501925.1:n.303-102_303-101del
ENST00000676255.1:c.264+8_264+9del	ENSP00000502459.1:n.264+8_264+9del
ENST00000676287.1:c.303-102_303-101del	ENSP00000502810.1:n.303-102_303-101del
ENST00000340850.9:c.303-102_303-101del	ENSP00000344570.5:n.303-102_303-101del
ENST00000377725.5:c.303-102_303-101del	ENSP00000366954.1:n.303-102_303-101del
ENST00000377728.7:c.303-102_303-101del	ENSP00000366957.3:n.303-102_303-101del
ENST00000377732.5:c.414-102_414-101del	ENSP00000366961.1:n.414-102_414-101del
ENST00000377740.4:c.534-102_534-101del	ENSP00000366969.3:n.534-102_534-101del
ENST00000377748.5:c.534-102_534-101del	ENSP00000366977.1:n.534-102_534-101del
ENST00000400913.5:c.303-102_303-101del	ENSP00000383704.1:n.303-102_303-101del
ENST00000400915.7:c.471-102_471-101del	ENSP00000383706.3:n.471-102_471-101del
ENST00000489097.5:n.677_678del
ENST00000535355.5:c.510-102_510-101del	ENSP00000441445.1:n.510-102_510-101del
ENST00000537245.5:c.540-102_540-101del	ENSP00000439625.1:n.540-102_540-101del
NM_001042663.1:c.471-102_471-101del	NP_001036128.1:n.471-102_471-101del
NM_001042664.1:c.303-102_303-101del	NP_001036129.1:n.303-102_303-101del
NM_001042665.1:c.303-102_303-101del	NP_001036130.1:n.303-102_303-101del
NM_001265592.1:c.540-102_540-101del	NP_001252521.1:n.540-102_540-101del
NM_001265593.1:c.510-102_510-101del	NP_001252522.1:n.510-102_510-101del
NM_001265594.1:c.303-102_303-101del	NP_001252523.1:n.303-102_303-101del
NM_020631.4:c.303-102_303-101del	NP_065682.2:n.303-102_303-101del
NM_198681.3:c.534-102_534-101del	NP_941374.2:n.534-102_534-101del
NM_001042663.2:c.471-102_471-101del	NP_001036128.1:n.471-102_471-101del
NM_001265594.2:c.303-102_303-101del	NP_001252523.1:n.303-102_303-101del
NM_020631.5:c.303-102_303-101del	NP_065682.2:n.303-102_303-101del
NM_001042663.3:c.414-102_414-101del	NP_001036128.2:n.414-102_414-101del
NM_001265592.2:c.414-102_414-101del	NP_001252521.2:n.414-102_414-101del
NM_020631.6:c.303-102_303-101del MANE Select	NP_065682.2:n.303-102_303-101del
NM_198681.4:c.303-102_303-101del	NP_941374.3:n.303-102_303-101del