Canonical Allele Identifier: CA2642995812

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6467382-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467388_6467390del , CM000663.2:g.6467388_6467390del	GRCh38
NC_000001.10:g.6527448_6527450del , CM000663.1:g.6527448_6527450del	GRCh37
NC_000001.9:g.6450035_6450037del	NCBI36
NG_007978.1:g.57625_57627del , LRG_262:g.57625_57627del
NG_029910.1:g.3811_3813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.*178_*180del	ENSP00000344570.5:n.*178_*180del
ENST00000377728.8:c.*178_*180del MANE Select	ENSP00000366957.3:n.*178_*180del
ENST00000377740.5:c.*178_*180del	ENSP00000366969.4:n.*178_*180del
ENST00000377748.6:c.*178_*180del	ENSP00000366977.2:n.*178_*180del
ENST00000400913.6:c.*178_*180del	ENSP00000383704.1:n.*178_*180del
ENST00000400915.8:c.*178_*180del	ENSP00000383706.4:n.*178_*180del
ENST00000489097.6:n.3675_3677del
ENST00000535355.6:c.*178_*180del	ENSP00000441445.1:n.*178_*180del
ENST00000673471.2:c.3496_3498del	ENSP00000500749.1:n.3496_3498del
ENST00000674790.1:c.*3411_*3413del	ENSP00000502815.1:n.*3411_*3413del
ENST00000675123.1:c.*178_*180del	ENSP00000502132.1:n.*178_*180del
ENST00000675548.1:c.*3027_*3029del	ENSP00000502684.1:n.*3027_*3029del
ENST00000675694.1:c.*178_*180del	ENSP00000501925.1:n.*178_*180del
ENST00000340850.9:c.*178_*180del	ENSP00000344570.5:n.*178_*180del
ENST00000377725.5:c.*206_*208del	ENSP00000366954.1:n.*206_*208del
ENST00000377728.7:c.*178_*180del	ENSP00000366957.3:n.*178_*180del
ENST00000377732.5:c.*178_*180del	ENSP00000366961.1:n.*178_*180del
ENST00000377740.4:c.*178_*180del	ENSP00000366969.3:n.*178_*180del
ENST00000377748.5:c.*178_*180del	ENSP00000366977.1:n.*178_*180del
ENST00000400913.5:c.*178_*180del	ENSP00000383704.1:n.*178_*180del
ENST00000400915.7:c.*178_*180del	ENSP00000383706.3:n.*178_*180del
ENST00000487949.4:n.2401_2403del
ENST00000489097.5:n.3675_3677del
ENST00000535355.5:c.*178_*180del	ENSP00000441445.1:n.*178_*180del
ENST00000537245.5:c.*178_*180del	ENSP00000439625.1:n.*178_*180del
NM_001042663.1:c.*178_*180del	NP_001036128.1:n.*178_*180del
NM_001042664.1:c.*178_*180del	NP_001036129.1:n.*178_*180del
NM_001042665.1:c.*178_*180del	NP_001036130.1:n.*178_*180del
NM_001265592.1:c.*178_*180del	NP_001252521.1:n.*178_*180del
NM_001265593.1:c.*178_*180del	NP_001252522.1:n.*178_*180del
NM_001265594.1:c.*206_*208del	NP_001252523.1:n.*206_*208del
NM_020631.4:c.*178_*180del	NP_065682.2:n.*178_*180del
NM_198681.3:c.*178_*180del	NP_941374.2:n.*178_*180del
NM_001042663.2:c.*178_*180del	NP_001036128.1:n.*178_*180del
NM_001265594.2:c.*206_*208del	NP_001252523.1:n.*206_*208del
NM_020631.5:c.*178_*180del	NP_065682.2:n.*178_*180del
NM_001042663.3:c.*178_*180del	NP_001036128.2:n.*178_*180del
NM_001265592.2:c.*178_*180del	NP_001252521.2:n.*178_*180del
NM_020631.6:c.*178_*180del MANE Select	NP_065682.2:n.*178_*180del
NM_198681.4:c.*178_*180del	NP_941374.3:n.*178_*180del