Canonical Allele Identifier: CA2642977350

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6473997-A-ACCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474002_6474003insCCCCCCCC , CM000663.2:g.6474002_6474003insCCCCCCCC	GRCh38
NC_000001.10:g.6534062_6534063insCCCCCCCC , CM000663.1:g.6534062_6534063insCCCCCCCC	GRCh37
NC_000001.9:g.6456649_6456650insCCCCCCCC	NCBI36
NG_007978.1:g.51012_51013insGGGGGGGG , LRG_262:g.51012_51013insGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.591+15_591+16insGGGGGGGG	ENSP00000344570.5:n.591+15_591+16insGGGGGGGG
ENST00000377728.8:c.591+15_591+16insGGGGGGGG MANE Select	ENSP00000366957.3:n.591+15_591+16insGGGGGGGG
ENST00000377740.5:c.591+15_591+16insGGGGGGGG	ENSP00000366969.4:n.591+15_591+16insGGGGGGGG
ENST00000377748.6:c.765+15_765+16insGGGGGGGG	ENSP00000366977.2:n.765+15_765+16insGGGGGGGG
ENST00000400913.6:c.591+15_591+16insGGGGGGGG	ENSP00000383704.1:n.591+15_591+16insGGGGGGGG
ENST00000400915.8:c.702+15_702+16insGGGGGGGG	ENSP00000383706.4:n.702+15_702+16insGGGGGGGG
ENST00000489097.6:n.1067+15_1067+16insGGGGGGGG
ENST00000535355.6:c.798+15_798+16insGGGGGGGG	ENSP00000441445.1:n.798+15_798+16insGGGGGGGG
ENST00000537245.6:c.702+15_702+16insGGGGGGGG	ENSP00000439625.2:n.702+15_702+16insGGGGGGGG
ENST00000673471.2:c.888+15_888+16insGGGGGGGG	ENSP00000500749.1:n.888+15_888+16insGGGGGGGG
ENST00000674790.1:c.*803+15_*803+16insGGGGGGGG	ENSP00000502815.1:n.*803+15_*803+16insGGGGGGGG
ENST00000675123.1:c.591+15_591+16insGGGGGGGG	ENSP00000502132.1:n.591+15_591+16insGGGGGGGG
ENST00000675548.1:c.*419+15_*419+16insGGGGGGGG	ENSP00000502684.1:n.*419+15_*419+16insGGGGGGGG
ENST00000675694.1:c.591+15_591+16insGGGGGGGG	ENSP00000501925.1:n.591+15_591+16insGGGGGGGG
ENST00000340850.9:c.591+15_591+16insGGGGGGGG	ENSP00000344570.5:n.591+15_591+16insGGGGGGGG
ENST00000377725.5:c.591+15_591+16insGGGGGGGG	ENSP00000366954.1:n.591+15_591+16insGGGGGGGG
ENST00000377728.7:c.591+15_591+16insGGGGGGGG	ENSP00000366957.3:n.591+15_591+16insGGGGGGGG
ENST00000377732.5:c.702+15_702+16insGGGGGGGG	ENSP00000366961.1:n.702+15_702+16insGGGGGGGG
ENST00000377740.4:c.822+15_822+16insGGGGGGGG	ENSP00000366969.3:n.822+15_822+16insGGGGGGGG
ENST00000377748.5:c.822+15_822+16insGGGGGGGG	ENSP00000366977.1:n.822+15_822+16insGGGGGGGG
ENST00000400913.5:c.591+15_591+16insGGGGGGGG	ENSP00000383704.1:n.591+15_591+16insGGGGGGGG
ENST00000400915.7:c.759+15_759+16insGGGGGGGG	ENSP00000383706.3:n.759+15_759+16insGGGGGGGG
ENST00000489097.5:n.1067+15_1067+16insGGGGGGGG
ENST00000535355.5:c.798+15_798+16insGGGGGGGG	ENSP00000441445.1:n.798+15_798+16insGGGGGGGG
ENST00000537245.5:c.828+15_828+16insGGGGGGGG	ENSP00000439625.1:n.828+15_828+16insGGGGGGGG
NM_001042663.1:c.759+15_759+16insGGGGGGGG	NP_001036128.1:n.759+15_759+16insGGGGGGGG
NM_001042664.1:c.591+15_591+16insGGGGGGGG	NP_001036129.1:n.591+15_591+16insGGGGGGGG
NM_001042665.1:c.591+15_591+16insGGGGGGGG	NP_001036130.1:n.591+15_591+16insGGGGGGGG
NM_001265592.1:c.828+15_828+16insGGGGGGGG	NP_001252521.1:n.828+15_828+16insGGGGGGGG
NM_001265593.1:c.798+15_798+16insGGGGGGGG	NP_001252522.1:n.798+15_798+16insGGGGGGGG
NM_001265594.1:c.591+15_591+16insGGGGGGGG	NP_001252523.1:n.591+15_591+16insGGGGGGGG
NM_020631.4:c.591+15_591+16insGGGGGGGG	NP_065682.2:n.591+15_591+16insGGGGGGGG
NM_198681.3:c.822+15_822+16insGGGGGGGG	NP_941374.2:n.822+15_822+16insGGGGGGGG
NM_001042663.2:c.759+15_759+16insGGGGGGGG	NP_001036128.1:n.759+15_759+16insGGGGGGGG
NM_001265594.2:c.591+15_591+16insGGGGGGGG	NP_001252523.1:n.591+15_591+16insGGGGGGGG
NM_020631.5:c.591+15_591+16insGGGGGGGG	NP_065682.2:n.591+15_591+16insGGGGGGGG
NM_001042663.3:c.702+15_702+16insGGGGGGGG	NP_001036128.2:n.702+15_702+16insGGGGGGGG
NM_001265592.2:c.702+15_702+16insGGGGGGGG	NP_001252521.2:n.702+15_702+16insGGGGGGGG
NM_020631.6:c.591+15_591+16insGGGGGGGG MANE Select	NP_065682.2:n.591+15_591+16insGGGGGGGG
NM_198681.4:c.591+15_591+16insGGGGGGGG	NP_941374.3:n.591+15_591+16insGGGGGGGG