Canonical Allele Identifier: CA2642977576

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6470875-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470877_6470879del , CM000663.2:g.6470877_6470879del	GRCh38
NC_000001.10:g.6530937_6530939del , CM000663.1:g.6530937_6530939del	GRCh37
NC_000001.9:g.6453524_6453526del	NCBI36
NG_007978.1:g.54132_54134del , LRG_262:g.54132_54134del
NG_029910.1:g.318_320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1399_1401del	ENSP00000344570.5:p.Glu467del
ENST00000377728.8:c.1399_1401del MANE Select	ENSP00000366957.3:p.Glu467del
ENST00000377740.5:c.1399_1401del	ENSP00000366969.4:p.Glu467del
ENST00000377748.6:c.1573_1575del	ENSP00000366977.2:p.Glu525del
ENST00000400913.6:c.1399_1401del	ENSP00000383704.1:p.Glu467del
ENST00000400915.8:c.1510_1512del	ENSP00000383706.4:p.Glu504del
ENST00000489097.6:n.1875_1877del
ENST00000535355.6:c.1606_1608del	ENSP00000441445.1:p.Glu536del
ENST00000537245.6:c.1510_1512del	ENSP00000439625.2:p.Glu504del
ENST00000673471.2:c.1696_1698del	ENSP00000500749.1:p.Glu566del
ENST00000674685.1:n.432_434del
ENST00000674790.1:c.*1611_*1613del	ENSP00000502815.1:n.*1611_*1613del
ENST00000674943.1:n.61_63del
ENST00000675123.1:c.1399_1401del	ENSP00000502132.1:p.Glu467del
ENST00000675548.1:c.*1227_*1229del	ENSP00000502684.1:n.*1227_*1229del
ENST00000675694.1:c.1399_1401del	ENSP00000501925.1:p.Glu467del
ENST00000340850.9:c.1399_1401del	ENSP00000344570.5:p.Glu467del
ENST00000377725.5:c.1399_1401del	ENSP00000366954.1:p.Glu467del
ENST00000377728.7:c.1399_1401del	ENSP00000366957.3:p.Glu467del
ENST00000377732.5:c.1510_1512del	ENSP00000366961.1:p.Glu504del
ENST00000377740.4:c.1630_1632del	ENSP00000366969.3:p.Glu544del
ENST00000377748.5:c.1630_1632del	ENSP00000366977.1:p.Glu544del
ENST00000400913.5:c.1399_1401del	ENSP00000383704.1:p.Glu467del
ENST00000400915.7:c.1567_1569del	ENSP00000383706.3:p.Glu523del
ENST00000487949.4:n.601_603del
ENST00000489097.5:n.1875_1877del
ENST00000535355.5:c.1606_1608del	ENSP00000441445.1:p.Glu536del
ENST00000537245.5:c.1636_1638del	ENSP00000439625.1:p.Glu546del
NM_001042663.1:c.1567_1569del	NP_001036128.1:p.Glu523del
NM_001042664.1:c.1399_1401del	NP_001036129.1:p.Glu467del
NM_001042665.1:c.1399_1401del	NP_001036130.1:p.Glu467del
NM_001265592.1:c.1636_1638del	NP_001252521.1:p.Glu546del
NM_001265593.1:c.1606_1608del	NP_001252522.1:p.Glu536del
NM_001265594.1:c.1399_1401del	NP_001252523.1:p.Glu467del
NM_020631.4:c.1399_1401del	NP_065682.2:p.Glu467del
NM_198681.3:c.1630_1632del	NP_941374.2:p.Glu544del
NM_001042663.2:c.1567_1569del	NP_001036128.1:p.Glu523del
NM_001265594.2:c.1399_1401del	NP_001252523.1:p.Glu467del
NM_020631.5:c.1399_1401del	NP_065682.2:p.Glu467del
NM_001042663.3:c.1510_1512del	NP_001036128.2:p.Glu504del
NM_001265592.2:c.1510_1512del	NP_001252521.2:p.Glu504del
NM_020631.6:c.1399_1401del MANE Select	NP_065682.2:p.Glu467del
NM_198681.4:c.1399_1401del	NP_941374.3:p.Glu467del