Canonical Allele Identifier: CA2642977714

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6470932-C-CTGGACGGGGCCGGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470932_6470933insTGGACGGGGCCGGGTGG , CM000663.2:g.6470932_6470933insTGGACGGGGCCGGGTGG	GRCh38
NC_000001.10:g.6530992_6530993insTGGACGGGGCCGGGTGG , CM000663.1:g.6530992_6530993insTGGACGGGGCCGGGTGG	GRCh37
NC_000001.9:g.6453579_6453580insTGGACGGGGCCGGGTGG	NCBI36
NG_007978.1:g.54077_54078insCCACCCGGCCCCGTCCA , LRG_262:g.54077_54078insCCACCCGGCCCCGTCCA
NG_029910.1:g.263_264insCCACCCGGCCCCGTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000344570.5:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000377728.8:c.1393-49_1393-48insCCACCCGGCCCCGTCCA MANE Select	ENSP00000366957.3:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000377740.5:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000366969.4:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000377748.6:c.1567-49_1567-48insCCACCCGGCCCCGTCCA	ENSP00000366977.2:n.1567-49_1567-48insCCACCCGGCCCCGTCCA
ENST00000400913.6:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000383704.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000400915.8:c.1504-49_1504-48insCCACCCGGCCCCGTCCA	ENSP00000383706.4:n.1504-49_1504-48insCCACCCGGCCCCGTCCA
ENST00000489097.6:n.1869-49_1869-48insCCACCCGGCCCCGTCCA
ENST00000535355.6:c.1600-49_1600-48insCCACCCGGCCCCGTCCA	ENSP00000441445.1:n.1600-49_1600-48insCCACCCGGCCCCGTCCA
ENST00000537245.6:c.1504-49_1504-48insCCACCCGGCCCCGTCCA	ENSP00000439625.2:n.1504-49_1504-48insCCACCCGGCCCCGTCCA
ENST00000673471.2:c.1690-49_1690-48insCCACCCGGCCCCGTCCA	ENSP00000500749.1:n.1690-49_1690-48insCCACCCGGCCCCGTCCA
ENST00000674685.1:n.426-49_426-48insCCACCCGGCCCCGTCCA
ENST00000674790.1:c.*1605-49_*1605-48insCCACCCGGCCCCGTCCA	ENSP00000502815.1:n.*1605-49_*1605-48insCCACCCGGCCCCGTCCA
ENST00000674943.1:n.6_7insCCACCCGGCCCCGTCCA
ENST00000675123.1:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000502132.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000675548.1:c.*1221-49_*1221-48insCCACCCGGCCCCGTCCA	ENSP00000502684.1:n.*1221-49_*1221-48insCCACCCGGCCCCGTCCA
ENST00000675694.1:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000501925.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000340850.9:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000344570.5:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000377725.5:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000366954.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000377728.7:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000366957.3:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000377732.5:c.1504-49_1504-48insCCACCCGGCCCCGTCCA	ENSP00000366961.1:n.1504-49_1504-48insCCACCCGGCCCCGTCCA
ENST00000377740.4:c.1624-49_1624-48insCCACCCGGCCCCGTCCA	ENSP00000366969.3:n.1624-49_1624-48insCCACCCGGCCCCGTCCA
ENST00000377748.5:c.1624-49_1624-48insCCACCCGGCCCCGTCCA	ENSP00000366977.1:n.1624-49_1624-48insCCACCCGGCCCCGTCCA
ENST00000400913.5:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	ENSP00000383704.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
ENST00000400915.7:c.1561-49_1561-48insCCACCCGGCCCCGTCCA	ENSP00000383706.3:n.1561-49_1561-48insCCACCCGGCCCCGTCCA
ENST00000487949.4:n.595-49_595-48insCCACCCGGCCCCGTCCA
ENST00000489097.5:n.1869-49_1869-48insCCACCCGGCCCCGTCCA
ENST00000535355.5:c.1600-49_1600-48insCCACCCGGCCCCGTCCA	ENSP00000441445.1:n.1600-49_1600-48insCCACCCGGCCCCGTCCA
ENST00000537245.5:c.1630-49_1630-48insCCACCCGGCCCCGTCCA	ENSP00000439625.1:n.1630-49_1630-48insCCACCCGGCCCCGTCCA
NM_001042663.1:c.1561-49_1561-48insCCACCCGGCCCCGTCCA	NP_001036128.1:n.1561-49_1561-48insCCACCCGGCCCCGTCCA
NM_001042664.1:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	NP_001036129.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
NM_001042665.1:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	NP_001036130.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
NM_001265592.1:c.1630-49_1630-48insCCACCCGGCCCCGTCCA	NP_001252521.1:n.1630-49_1630-48insCCACCCGGCCCCGTCCA
NM_001265593.1:c.1600-49_1600-48insCCACCCGGCCCCGTCCA	NP_001252522.1:n.1600-49_1600-48insCCACCCGGCCCCGTCCA
NM_001265594.1:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	NP_001252523.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
NM_020631.4:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	NP_065682.2:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
NM_198681.3:c.1624-49_1624-48insCCACCCGGCCCCGTCCA	NP_941374.2:n.1624-49_1624-48insCCACCCGGCCCCGTCCA
NM_001042663.2:c.1561-49_1561-48insCCACCCGGCCCCGTCCA	NP_001036128.1:n.1561-49_1561-48insCCACCCGGCCCCGTCCA
NM_001265594.2:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	NP_001252523.1:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
NM_020631.5:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	NP_065682.2:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
NM_001042663.3:c.1504-49_1504-48insCCACCCGGCCCCGTCCA	NP_001036128.2:n.1504-49_1504-48insCCACCCGGCCCCGTCCA
NM_001265592.2:c.1504-49_1504-48insCCACCCGGCCCCGTCCA	NP_001252521.2:n.1504-49_1504-48insCCACCCGGCCCCGTCCA
NM_020631.6:c.1393-49_1393-48insCCACCCGGCCCCGTCCA MANE Select	NP_065682.2:n.1393-49_1393-48insCCACCCGGCCCCGTCCA
NM_198681.4:c.1393-49_1393-48insCCACCCGGCCCCGTCCA	NP_941374.3:n.1393-49_1393-48insCCACCCGGCCCCGTCCA