Canonical Allele Identifier: CA2642977809

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6470991-GTGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470992_6470995del , CM000663.2:g.6470992_6470995del	GRCh38
NC_000001.10:g.6531052_6531055del , CM000663.1:g.6531052_6531055del	GRCh37
NC_000001.9:g.6453639_6453642del	NCBI36
NG_007978.1:g.54015_54018del , LRG_262:g.54015_54018del
NG_029910.1:g.201_204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1387_1390del	ENSP00000344570.5:p.Ile463ArgfsTer12
ENST00000377728.8:c.1387_1390del MANE Select	ENSP00000366957.3:p.Ile463ArgfsTer12
ENST00000377740.5:c.1387_1390del	ENSP00000366969.4:p.Ile463ArgfsTer12
ENST00000377748.6:c.1561_1564del	ENSP00000366977.2:p.Ile521ArgfsTer12
ENST00000400913.6:c.1387_1390del	ENSP00000383704.1:p.Ile463ArgfsTer12
ENST00000400915.8:c.1498_1501del	ENSP00000383706.4:p.Ile500ArgfsTer12
ENST00000489097.6:n.1863_1866del
ENST00000535355.6:c.1594_1597del	ENSP00000441445.1:p.Ile532ArgfsTer12
ENST00000537245.6:c.1498_1501del	ENSP00000439625.2:p.Ile500ArgfsTer12
ENST00000673471.2:c.1684_1687del	ENSP00000500749.1:p.Ile562ArgfsTer12
ENST00000674685.1:n.420_423del
ENST00000674790.1:c.*1599_*1602del	ENSP00000502815.1:n.*1599_*1602del
ENST00000675123.1:c.1387_1390del	ENSP00000502132.1:p.Ile463ArgfsTer12
ENST00000675548.1:c.*1215_*1218del	ENSP00000502684.1:n.*1215_*1218del
ENST00000675694.1:c.1387_1390del	ENSP00000501925.1:p.Ile463ArgfsTer12
ENST00000340850.9:c.1387_1390del	ENSP00000344570.5:p.Ile463ArgfsTer12
ENST00000377725.5:c.1387_1390del	ENSP00000366954.1:p.Ile463ArgfsTer12
ENST00000377728.7:c.1387_1390del	ENSP00000366957.3:p.Ile463ArgfsTer12
ENST00000377732.5:c.1498_1501del	ENSP00000366961.1:p.Ile500ArgfsTer12
ENST00000377740.4:c.1618_1621del	ENSP00000366969.3:p.Ile540ArgfsTer12
ENST00000377748.5:c.1618_1621del	ENSP00000366977.1:p.Ile540ArgfsTer12
ENST00000400913.5:c.1387_1390del	ENSP00000383704.1:p.Ile463ArgfsTer12
ENST00000400915.7:c.1555_1558del	ENSP00000383706.3:p.Ile519ArgfsTer12
ENST00000487949.4:n.589_592del
ENST00000489097.5:n.1863_1866del
ENST00000535355.5:c.1594_1597del	ENSP00000441445.1:p.Ile532ArgfsTer12
ENST00000537245.5:c.1624_1627del	ENSP00000439625.1:p.Ile542ArgfsTer12
NM_001042663.1:c.1555_1558del	NP_001036128.1:p.Ile519ArgfsTer12
NM_001042664.1:c.1387_1390del	NP_001036129.1:p.Ile463ArgfsTer12
NM_001042665.1:c.1387_1390del	NP_001036130.1:p.Ile463ArgfsTer12
NM_001265592.1:c.1624_1627del	NP_001252521.1:p.Ile542ArgfsTer12
NM_001265593.1:c.1594_1597del	NP_001252522.1:p.Ile532ArgfsTer12
NM_001265594.1:c.1387_1390del	NP_001252523.1:p.Ile463ArgfsTer12
NM_020631.4:c.1387_1390del	NP_065682.2:p.Ile463ArgfsTer12
NM_198681.3:c.1618_1621del	NP_941374.2:p.Ile540ArgfsTer12
NM_001042663.2:c.1555_1558del	NP_001036128.1:p.Ile519ArgfsTer12
NM_001265594.2:c.1387_1390del	NP_001252523.1:p.Ile463ArgfsTer12
NM_020631.5:c.1387_1390del	NP_065682.2:p.Ile463ArgfsTer12
NM_001042663.3:c.1498_1501del	NP_001036128.2:p.Ile500ArgfsTer12
NM_001265592.2:c.1498_1501del	NP_001252521.2:p.Ile500ArgfsTer12
NM_020631.6:c.1387_1390del MANE Select	NP_065682.2:p.Ile463ArgfsTer12
NM_198681.4:c.1387_1390del	NP_941374.3:p.Ile463ArgfsTer12