Canonical Allele Identifier: CA2642977021

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6470573-A-AGCCGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470580_6470585dup , CM000663.2:g.6470580_6470585dup	GRCh38
NC_000001.10:g.6530640_6530645dup , CM000663.1:g.6530640_6530645dup	GRCh37
NC_000001.9:g.6453227_6453232dup	NCBI36
NG_007978.1:g.54431_54436dup , LRG_262:g.54431_54436dup
NG_029910.1:g.617_622dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1607_1612dup	ENSP00000344570.5:p.Arg537_Leu538insGlnArg
ENST00000377728.8:c.1607_1612dup MANE Select	ENSP00000366957.3:p.Arg537_Leu538insGlnArg
ENST00000377740.5:c.1607_1612dup	ENSP00000366969.4:p.Arg537_Leu538insGlnArg
ENST00000377748.6:c.1781_1786dup	ENSP00000366977.2:p.Arg595_Leu596insGlnArg
ENST00000400913.6:c.1607_1612dup	ENSP00000383704.1:p.Arg537_Leu538insGlnArg
ENST00000400915.8:c.1718_1723dup	ENSP00000383706.4:p.Arg574_Leu575insGlnArg
ENST00000489097.6:n.2083_2088dup
ENST00000535355.6:c.1814_1819dup	ENSP00000441445.1:p.Arg606_Leu607insGlnArg
ENST00000537245.6:c.1718_1723dup	ENSP00000439625.2:p.Arg574_Leu575insGlnArg
ENST00000673471.2:c.1904_1909dup	ENSP00000500749.1:p.Arg636_Leu637insGlnArg
ENST00000674790.1:c.*1819_*1824dup	ENSP00000502815.1:n.*1819_*1824dup
ENST00000674943.1:n.269_274dup
ENST00000675123.1:c.1607_1612dup	ENSP00000502132.1:p.Arg537_Leu538insGlnArg
ENST00000675548.1:c.*1435_*1440dup	ENSP00000502684.1:n.*1435_*1440dup
ENST00000675694.1:c.1607_1612dup	ENSP00000501925.1:p.Arg537_Leu538insGlnArg
ENST00000676401.1:n.154_159dup
ENST00000340850.9:c.1607_1612dup	ENSP00000344570.5:p.Arg537_Leu538insGlnArg
ENST00000377725.5:c.1607_1612dup	ENSP00000366954.1:p.Arg537_Leu538insGlnArg
ENST00000377728.7:c.1607_1612dup	ENSP00000366957.3:p.Arg537_Leu538insGlnArg
ENST00000377732.5:c.1718_1723dup	ENSP00000366961.1:p.Arg574_Leu575insGlnArg
ENST00000377740.4:c.1838_1843dup	ENSP00000366969.3:p.Arg614_Leu615insGlnArg
ENST00000377748.5:c.1838_1843dup	ENSP00000366977.1:p.Arg614_Leu615insGlnArg
ENST00000400913.5:c.1607_1612dup	ENSP00000383704.1:p.Arg537_Leu538insGlnArg
ENST00000400915.7:c.1775_1780dup	ENSP00000383706.3:p.Arg593_Leu594insGlnArg
ENST00000487949.4:n.809_814dup
ENST00000489097.5:n.2083_2088dup
ENST00000535355.5:c.1814_1819dup	ENSP00000441445.1:p.Arg606_Leu607insGlnArg
ENST00000537245.5:c.1844_1849dup	ENSP00000439625.1:p.Arg616_Leu617insGlnArg
NM_001042663.1:c.1775_1780dup	NP_001036128.1:p.Arg593_Leu594insGlnArg
NM_001042664.1:c.1607_1612dup	NP_001036129.1:p.Arg537_Leu538insGlnArg
NM_001042665.1:c.1607_1612dup	NP_001036130.1:p.Arg537_Leu538insGlnArg
NM_001265592.1:c.1844_1849dup	NP_001252521.1:p.Arg616_Leu617insGlnArg
NM_001265593.1:c.1814_1819dup	NP_001252522.1:p.Arg606_Leu607insGlnArg
NM_001265594.1:c.1607_1612dup	NP_001252523.1:p.Arg537_Leu538insGlnArg
NM_020631.4:c.1607_1612dup	NP_065682.2:p.Arg537_Leu538insGlnArg
NM_198681.3:c.1838_1843dup	NP_941374.2:p.Arg614_Leu615insGlnArg
NM_001042663.2:c.1775_1780dup	NP_001036128.1:p.Arg593_Leu594insGlnArg
NM_001265594.2:c.1607_1612dup	NP_001252523.1:p.Arg537_Leu538insGlnArg
NM_020631.5:c.1607_1612dup	NP_065682.2:p.Arg537_Leu538insGlnArg
NM_001042663.3:c.1718_1723dup	NP_001036128.2:p.Arg574_Leu575insGlnArg
NM_001265592.2:c.1718_1723dup	NP_001252521.2:p.Arg574_Leu575insGlnArg
NM_020631.6:c.1607_1612dup MANE Select	NP_065682.2:p.Arg537_Leu538insGlnArg
NM_198681.4:c.1607_1612dup	NP_941374.3:p.Arg537_Leu538insGlnArg