Canonical Allele Identifier: CA521018823

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1221164666
• gnomAD v2: 1-6530964-G-GAT
• gnomAD v3: 1-6470904-G-GAT
• gnomAD v4: 1-6470904-G-GAT
• MyVariant Identifiers: chr1:g.6530964_6530965insAT (hg19) ; chr1:g.6470904_6470905insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470904_6470905insAT , CM000663.2:g.6470904_6470905insAT	GRCh38
NC_000001.10:g.6530964_6530965insAT , CM000663.1:g.6530964_6530965insAT	GRCh37
NC_000001.9:g.6453551_6453552insAT	NCBI36
NG_007978.1:g.54105_54106insAT , LRG_262:g.54105_54106insAT
NG_029910.1:g.291_292insAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.1393-21_1393-20insAT	ENSP00000344570.5:n.1393-21_1393-20insAT
ENST00000377728.8:c.1393-21_1393-20insAT MANE Select	ENSP00000366957.3:n.1393-21_1393-20insAT
ENST00000377740.5:c.1393-21_1393-20insAT	ENSP00000366969.4:n.1393-21_1393-20insAT
ENST00000377748.6:c.1567-21_1567-20insAT	ENSP00000366977.2:n.1567-21_1567-20insAT
ENST00000400913.6:c.1393-21_1393-20insAT	ENSP00000383704.1:n.1393-21_1393-20insAT
ENST00000400915.8:c.1504-21_1504-20insAT	ENSP00000383706.4:n.1504-21_1504-20insAT
ENST00000489097.6:n.1869-21_1869-20insAT
ENST00000535355.6:c.1600-21_1600-20insAT	ENSP00000441445.1:n.1600-21_1600-20insAT
ENST00000537245.6:c.1504-21_1504-20insAT	ENSP00000439625.2:n.1504-21_1504-20insAT
ENST00000673471.2:c.1690-21_1690-20insAT	ENSP00000500749.1:n.1690-21_1690-20insAT
ENST00000674685.1:n.426-21_426-20insAT
ENST00000674790.1:c.*1605-21_*1605-20insAT	ENSP00000502815.1:n.*1605-21_*1605-20insA...
ENST00000674943.1:n.34_35insAT
ENST00000675123.1:c.1393-21_1393-20insAT	ENSP00000502132.1:n.1393-21_1393-20insAT
ENST00000675548.1:c.*1221-21_*1221-20insAT	ENSP00000502684.1:n.*1221-21_*1221-20insA...
ENST00000675694.1:c.1393-21_1393-20insAT	ENSP00000501925.1:n.1393-21_1393-20insAT
ENST00000340850.9:c.1393-21_1393-20insAT	ENSP00000344570.5:n.1393-21_1393-20insAT
ENST00000377725.5:c.1393-21_1393-20insAT	ENSP00000366954.1:n.1393-21_1393-20insAT
ENST00000377728.7:c.1393-21_1393-20insAT	ENSP00000366957.3:n.1393-21_1393-20insAT
ENST00000377732.5:c.1504-21_1504-20insAT	ENSP00000366961.1:n.1504-21_1504-20insAT
ENST00000377740.4:c.1624-21_1624-20insAT	ENSP00000366969.3:n.1624-21_1624-20insAT
ENST00000377748.5:c.1624-21_1624-20insAT	ENSP00000366977.1:n.1624-21_1624-20insAT
ENST00000400913.5:c.1393-21_1393-20insAT	ENSP00000383704.1:n.1393-21_1393-20insAT
ENST00000400915.7:c.1561-21_1561-20insAT	ENSP00000383706.3:n.1561-21_1561-20insAT
ENST00000487949.4:n.595-21_595-20insAT
ENST00000489097.5:n.1869-21_1869-20insAT
ENST00000535355.5:c.1600-21_1600-20insAT	ENSP00000441445.1:n.1600-21_1600-20insAT
ENST00000537245.5:c.1630-21_1630-20insAT	ENSP00000439625.1:n.1630-21_1630-20insAT
NM_001042663.1:c.1561-21_1561-20insAT	NP_001036128.1:n.1561-21_1561-20insAT
NM_001042664.1:c.1393-21_1393-20insAT	NP_001036129.1:n.1393-21_1393-20insAT
NM_001042665.1:c.1393-21_1393-20insAT	NP_001036130.1:n.1393-21_1393-20insAT
NM_001265592.1:c.1630-21_1630-20insAT	NP_001252521.1:n.1630-21_1630-20insAT
NM_001265593.1:c.1600-21_1600-20insAT	NP_001252522.1:n.1600-21_1600-20insAT
NM_001265594.1:c.1393-21_1393-20insAT	NP_001252523.1:n.1393-21_1393-20insAT
NM_020631.4:c.1393-21_1393-20insAT	NP_065682.2:n.1393-21_1393-20insAT
NM_198681.3:c.1624-21_1624-20insAT	NP_941374.2:n.1624-21_1624-20insAT
NM_001042663.2:c.1561-21_1561-20insAT	NP_001036128.1:n.1561-21_1561-20insAT
NM_001265594.2:c.1393-21_1393-20insAT	NP_001252523.1:n.1393-21_1393-20insAT
NM_020631.5:c.1393-21_1393-20insAT	NP_065682.2:n.1393-21_1393-20insAT
NM_001042663.3:c.1504-21_1504-20insAT	NP_001036128.2:n.1504-21_1504-20insAT
NM_001265592.2:c.1504-21_1504-20insAT	NP_001252521.2:n.1504-21_1504-20insAT
NM_020631.6:c.1393-21_1393-20insAT MANE Select	NP_065682.2:n.1393-21_1393-20insAT
NM_198681.4:c.1393-21_1393-20insAT	NP_941374.3:n.1393-21_1393-20insAT