Canonical Allele Identifier: CA2840114550

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6472590dup , CM000663.2:g.6472590dup	GRCh38
NC_000001.10:g.6532650dup , CM000663.1:g.6532650dup	GRCh37
NC_000001.9:g.6455237dup	NCBI36
NG_007978.1:g.52421dup , LRG_262:g.52421dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1018dup	ENSP00000344570.5:p.Ala340GlyfsTer?
ENST00000377728.8:c.1018dup MANE Select	ENSP00000366957.3:p.Ala340GlyfsTer?
ENST00000377740.5:c.1018dup	ENSP00000366969.4:p.Ala340GlyfsTer?
ENST00000377748.6:c.1192dup	ENSP00000366977.2:p.Ala398GlyfsTer?
ENST00000400913.6:c.1018dup	ENSP00000383704.1:p.Ala340GlyfsTer?
ENST00000400915.8:c.1129dup	ENSP00000383706.4:p.Ala377GlyfsTer?
ENST00000489097.6:n.1494dup
ENST00000535355.6:c.1225dup	ENSP00000441445.1:p.Ala409GlyfsTer?
ENST00000537245.6:c.1129dup	ENSP00000439625.2:p.Ala377GlyfsTer?
ENST00000673471.2:c.1315dup	ENSP00000500749.1:p.Ala439GlyfsTer?
ENST00000674790.1:c.*1230dup	ENSP00000502815.1:n.*1230dup
ENST00000675123.1:c.1018dup	ENSP00000502132.1:p.Ala340GlyfsTer?
ENST00000675548.1:c.*846dup	ENSP00000502684.1:n.*846dup
ENST00000675694.1:c.1018dup	ENSP00000501925.1:p.Ala340GlyfsTer?
ENST00000340850.9:c.1018dup	ENSP00000344570.5:p.Ala340GlyfsTer?
ENST00000377725.5:c.1018dup	ENSP00000366954.1:p.Ala340GlyfsTer?
ENST00000377728.7:c.1018dup	ENSP00000366957.3:p.Ala340GlyfsTer?
ENST00000377732.5:c.1129dup	ENSP00000366961.1:p.Ala377GlyfsTer?
ENST00000377740.4:c.1249dup	ENSP00000366969.3:p.Ala417GlyfsTer?
ENST00000377748.5:c.1249dup	ENSP00000366977.1:p.Ala417GlyfsTer?
ENST00000400913.5:c.1018dup	ENSP00000383704.1:p.Ala340GlyfsTer?
ENST00000400915.7:c.1186dup	ENSP00000383706.3:p.Ala396GlyfsTer?
ENST00000489097.5:n.1494dup
ENST00000535355.5:c.1225dup	ENSP00000441445.1:p.Ala409GlyfsTer?
ENST00000537245.5:c.1255dup	ENSP00000439625.1:p.Ala419GlyfsTer?
NM_001042663.1:c.1186dup	NP_001036128.1:p.Ala396GlyfsTer?
NM_001042664.1:c.1018dup	NP_001036129.1:p.Ala340GlyfsTer?
NM_001042665.1:c.1018dup	NP_001036130.1:p.Ala340GlyfsTer?
NM_001265592.1:c.1255dup	NP_001252521.1:p.Ala419GlyfsTer?
NM_001265593.1:c.1225dup	NP_001252522.1:p.Ala409GlyfsTer?
NM_001265594.1:c.1018dup	NP_001252523.1:p.Ala340GlyfsTer?
NM_020631.4:c.1018dup	NP_065682.2:p.Ala340GlyfsTer?
NM_198681.3:c.1249dup	NP_941374.2:p.Ala417GlyfsTer?
NM_001042663.2:c.1186dup	NP_001036128.1:p.Ala396GlyfsTer?
NM_001265594.2:c.1018dup	NP_001252523.1:p.Ala340GlyfsTer?
NM_020631.5:c.1018dup	NP_065682.2:p.Ala340GlyfsTer?
NM_001042663.3:c.1129dup	NP_001036128.2:p.Ala377GlyfsTer?
NM_001265592.2:c.1129dup	NP_001252521.2:p.Ala377GlyfsTer?
NM_020631.6:c.1018dup MANE Select	NP_065682.2:p.Ala340GlyfsTer?
NM_198681.4:c.1018dup	NP_941374.3:p.Ala340GlyfsTer?