Canonical Allele Identifier: CA2838200295

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474475dup , CM000663.2:g.6474475dup	GRCh38
NC_000001.10:g.6534535dup , CM000663.1:g.6534535dup	GRCh37
NC_000001.9:g.6457122dup	NCBI36
NG_007978.1:g.50539dup , LRG_262:g.50539dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.419dup	ENSP00000344570.5:p.His141ThrfsTer14
ENST00000377728.8:c.419dup MANE Select	ENSP00000366957.3:p.His141ThrfsTer14
ENST00000377740.5:c.419dup	ENSP00000366969.4:p.His141ThrfsTer14
ENST00000377748.6:c.593dup	ENSP00000366977.2:p.His199ThrfsTer14
ENST00000400913.6:c.419dup	ENSP00000383704.1:p.His141ThrfsTer14
ENST00000400915.8:c.530dup	ENSP00000383706.4:p.His178ThrfsTer14
ENST00000489097.6:n.895dup
ENST00000535355.6:c.626dup	ENSP00000441445.1:p.His210ThrfsTer14
ENST00000537245.6:c.530dup	ENSP00000439625.2:p.His178ThrfsTer14
ENST00000673471.2:c.716dup	ENSP00000500749.1:p.His240ThrfsTer14
ENST00000674790.1:c.*631dup	ENSP00000502815.1:n.*631dup
ENST00000675123.1:c.419dup	ENSP00000502132.1:p.His141ThrfsTer14
ENST00000675548.1:c.*247dup	ENSP00000502684.1:n.*247dup
ENST00000675694.1:c.419dup	ENSP00000501925.1:p.His141ThrfsTer14
ENST00000676255.1:c.381dup	ENSP00000502459.1:n.381dup
ENST00000340850.9:c.419dup	ENSP00000344570.5:p.His141ThrfsTer14
ENST00000377725.5:c.419dup	ENSP00000366954.1:p.His141ThrfsTer14
ENST00000377728.7:c.419dup	ENSP00000366957.3:p.His141ThrfsTer14
ENST00000377732.5:c.530dup	ENSP00000366961.1:p.His178ThrfsTer14
ENST00000377740.4:c.650dup	ENSP00000366969.3:p.His218ThrfsTer14
ENST00000377748.5:c.650dup	ENSP00000366977.1:p.His218ThrfsTer14
ENST00000400913.5:c.419dup	ENSP00000383704.1:p.His141ThrfsTer14
ENST00000400915.7:c.587dup	ENSP00000383706.3:p.His197ThrfsTer14
ENST00000489097.5:n.895dup
ENST00000535355.5:c.626dup	ENSP00000441445.1:p.His210ThrfsTer14
ENST00000537245.5:c.656dup	ENSP00000439625.1:p.His220ThrfsTer14
NM_001042663.1:c.587dup	NP_001036128.1:p.His197ThrfsTer14
NM_001042664.1:c.419dup	NP_001036129.1:p.His141ThrfsTer14
NM_001042665.1:c.419dup	NP_001036130.1:p.His141ThrfsTer14
NM_001265592.1:c.656dup	NP_001252521.1:p.His220ThrfsTer14
NM_001265593.1:c.626dup	NP_001252522.1:p.His210ThrfsTer14
NM_001265594.1:c.419dup	NP_001252523.1:p.His141ThrfsTer14
NM_020631.4:c.419dup	NP_065682.2:p.His141ThrfsTer14
NM_198681.3:c.650dup	NP_941374.2:p.His218ThrfsTer14
NM_001042663.2:c.587dup	NP_001036128.1:p.His197ThrfsTer14
NM_001265594.2:c.419dup	NP_001252523.1:p.His141ThrfsTer14
NM_020631.5:c.419dup	NP_065682.2:p.His141ThrfsTer14
NM_001042663.3:c.530dup	NP_001036128.2:p.His178ThrfsTer14
NM_001265592.2:c.530dup	NP_001252521.2:p.His178ThrfsTer14
NM_020631.6:c.419dup MANE Select	NP_065682.2:p.His141ThrfsTer14
NM_198681.4:c.419dup	NP_941374.3:p.His141ThrfsTer14