Canonical Allele Identifier: CA521018797

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1201221215
• gnomAD v2: 1-6530816-G-GTC
• MyVariant Identifiers: chr1:g.6530816_6530817insTC (hg19) ; chr1:g.6470756_6470757insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470756_6470757insTC , CM000663.2:g.6470756_6470757insTC	GRCh38
NC_000001.10:g.6530816_6530817insTC , CM000663.1:g.6530816_6530817insTC	GRCh37
NC_000001.9:g.6453403_6453404insTC	NCBI36
NG_007978.1:g.54253_54254insGA , LRG_262:g.54253_54254insGA
NG_029910.1:g.439_440insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1520_1521insGA	ENSP00000344570.5:p.Lys508ThrfsTer8
ENST00000377728.8:c.1520_1521insGA MANE Select	ENSP00000366957.3:p.Lys508ThrfsTer8
ENST00000377740.5:c.1520_1521insGA	ENSP00000366969.4:p.Lys508ThrfsTer8
ENST00000377748.6:c.1694_1695insGA	ENSP00000366977.2:p.Lys566ThrfsTer8
ENST00000400913.6:c.1520_1521insGA	ENSP00000383704.1:p.Lys508ThrfsTer8
ENST00000400915.8:c.1631_1632insGA	ENSP00000383706.4:p.Lys545ThrfsTer8
ENST00000489097.6:n.1996_1997insGA
ENST00000535355.6:c.1727_1728insGA	ENSP00000441445.1:p.Lys577ThrfsTer8
ENST00000537245.6:c.1631_1632insGA	ENSP00000439625.2:p.Lys545ThrfsTer8
ENST00000673471.2:c.1817_1818insGA	ENSP00000500749.1:p.Lys607ThrfsTer8
ENST00000674685.1:n.553_554insGA
ENST00000674790.1:c.*1732_*1733insGA	ENSP00000502815.1:n.*1732_*1733insGA
ENST00000674943.1:n.182_183insGA
ENST00000675123.1:c.1520_1521insGA	ENSP00000502132.1:p.Lys508ThrfsTer8
ENST00000675548.1:c.*1348_*1349insGA	ENSP00000502684.1:n.*1348_*1349insGA
ENST00000675694.1:c.1520_1521insGA	ENSP00000501925.1:p.Lys508ThrfsTer8
ENST00000340850.9:c.1520_1521insGA	ENSP00000344570.5:p.Lys508ThrfsTer8
ENST00000377725.5:c.1520_1521insGA	ENSP00000366954.1:p.Lys508ThrfsTer8
ENST00000377728.7:c.1520_1521insGA	ENSP00000366957.3:p.Lys508ThrfsTer8
ENST00000377732.5:c.1631_1632insGA	ENSP00000366961.1:p.Lys545ThrfsTer8
ENST00000377740.4:c.1751_1752insGA	ENSP00000366969.3:p.Lys585ThrfsTer8
ENST00000377748.5:c.1751_1752insGA	ENSP00000366977.1:p.Lys585ThrfsTer8
ENST00000400913.5:c.1520_1521insGA	ENSP00000383704.1:p.Lys508ThrfsTer8
ENST00000400915.7:c.1688_1689insGA	ENSP00000383706.3:p.Lys564ThrfsTer8
ENST00000487949.4:n.722_723insGA
ENST00000489097.5:n.1996_1997insGA
ENST00000535355.5:c.1727_1728insGA	ENSP00000441445.1:p.Lys577ThrfsTer8
ENST00000537245.5:c.1757_1758insGA	ENSP00000439625.1:p.Lys587ThrfsTer8
NM_001042663.1:c.1688_1689insGA	NP_001036128.1:p.Lys564ThrfsTer8
NM_001042664.1:c.1520_1521insGA	NP_001036129.1:p.Lys508ThrfsTer8
NM_001042665.1:c.1520_1521insGA	NP_001036130.1:p.Lys508ThrfsTer8
NM_001265592.1:c.1757_1758insGA	NP_001252521.1:p.Lys587ThrfsTer8
NM_001265593.1:c.1727_1728insGA	NP_001252522.1:p.Lys577ThrfsTer8
NM_001265594.1:c.1520_1521insGA	NP_001252523.1:p.Lys508ThrfsTer8
NM_020631.4:c.1520_1521insGA	NP_065682.2:p.Lys508ThrfsTer8
NM_198681.3:c.1751_1752insGA	NP_941374.2:p.Lys585ThrfsTer8
NM_001042663.2:c.1688_1689insGA	NP_001036128.1:p.Lys564ThrfsTer8
NM_001265594.2:c.1520_1521insGA	NP_001252523.1:p.Lys508ThrfsTer8
NM_020631.5:c.1520_1521insGA	NP_065682.2:p.Lys508ThrfsTer8
NM_001042663.3:c.1631_1632insGA	NP_001036128.2:p.Lys545ThrfsTer8
NM_001265592.2:c.1631_1632insGA	NP_001252521.2:p.Lys545ThrfsTer8
NM_020631.6:c.1520_1521insGA MANE Select	NP_065682.2:p.Lys508ThrfsTer8
NM_198681.4:c.1520_1521insGA	NP_941374.3:p.Lys508ThrfsTer8