Canonical Allele Identifier: CA2642977397

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474004-CCTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474006_6474010del , CM000663.2:g.6474006_6474010del	GRCh38
NC_000001.10:g.6534066_6534070del , CM000663.1:g.6534066_6534070del	GRCh37
NC_000001.9:g.6456653_6456657del	NCBI36
NG_007978.1:g.51001_51005del , LRG_262:g.51001_51005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.591+4_591+8del	ENSP00000344570.5:n.591+4_591+8del
ENST00000377728.8:c.591+4_591+8del MANE Select	ENSP00000366957.3:n.591+4_591+8del
ENST00000377740.5:c.591+4_591+8del	ENSP00000366969.4:n.591+4_591+8del
ENST00000377748.6:c.765+4_765+8del	ENSP00000366977.2:n.765+4_765+8del
ENST00000400913.6:c.591+4_591+8del	ENSP00000383704.1:n.591+4_591+8del
ENST00000400915.8:c.702+4_702+8del	ENSP00000383706.4:n.702+4_702+8del
ENST00000489097.6:n.1067+4_1067+8del
ENST00000535355.6:c.798+4_798+8del	ENSP00000441445.1:n.798+4_798+8del
ENST00000537245.6:c.702+4_702+8del	ENSP00000439625.2:n.702+4_702+8del
ENST00000673471.2:c.888+4_888+8del	ENSP00000500749.1:n.888+4_888+8del
ENST00000674790.1:c.*803+4_*803+8del	ENSP00000502815.1:n.*803+4_*803+8del
ENST00000675123.1:c.591+4_591+8del	ENSP00000502132.1:n.591+4_591+8del
ENST00000675548.1:c.*419+4_*419+8del	ENSP00000502684.1:n.*419+4_*419+8del
ENST00000675694.1:c.591+4_591+8del	ENSP00000501925.1:n.591+4_591+8del
ENST00000340850.9:c.591+4_591+8del	ENSP00000344570.5:n.591+4_591+8del
ENST00000377725.5:c.591+4_591+8del	ENSP00000366954.1:n.591+4_591+8del
ENST00000377728.7:c.591+4_591+8del	ENSP00000366957.3:n.591+4_591+8del
ENST00000377732.5:c.702+4_702+8del	ENSP00000366961.1:n.702+4_702+8del
ENST00000377740.4:c.822+4_822+8del	ENSP00000366969.3:n.822+4_822+8del
ENST00000377748.5:c.822+4_822+8del	ENSP00000366977.1:n.822+4_822+8del
ENST00000400913.5:c.591+4_591+8del	ENSP00000383704.1:n.591+4_591+8del
ENST00000400915.7:c.759+4_759+8del	ENSP00000383706.3:n.759+4_759+8del
ENST00000489097.5:n.1067+4_1067+8del
ENST00000535355.5:c.798+4_798+8del	ENSP00000441445.1:n.798+4_798+8del
ENST00000537245.5:c.828+4_828+8del	ENSP00000439625.1:n.828+4_828+8del
NM_001042663.1:c.759+4_759+8del	NP_001036128.1:n.759+4_759+8del
NM_001042664.1:c.591+4_591+8del	NP_001036129.1:n.591+4_591+8del
NM_001042665.1:c.591+4_591+8del	NP_001036130.1:n.591+4_591+8del
NM_001265592.1:c.828+4_828+8del	NP_001252521.1:n.828+4_828+8del
NM_001265593.1:c.798+4_798+8del	NP_001252522.1:n.798+4_798+8del
NM_001265594.1:c.591+4_591+8del	NP_001252523.1:n.591+4_591+8del
NM_020631.4:c.591+4_591+8del	NP_065682.2:n.591+4_591+8del
NM_198681.3:c.822+4_822+8del	NP_941374.2:n.822+4_822+8del
NM_001042663.2:c.759+4_759+8del	NP_001036128.1:n.759+4_759+8del
NM_001265594.2:c.591+4_591+8del	NP_001252523.1:n.591+4_591+8del
NM_020631.5:c.591+4_591+8del	NP_065682.2:n.591+4_591+8del
NM_001042663.3:c.702+4_702+8del	NP_001036128.2:n.702+4_702+8del
NM_001265592.2:c.702+4_702+8del	NP_001252521.2:n.702+4_702+8del
NM_020631.6:c.591+4_591+8del MANE Select	NP_065682.2:n.591+4_591+8del
NM_198681.4:c.591+4_591+8del	NP_941374.3:n.591+4_591+8del