Canonical Allele Identifier: CA561245

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs776428053
• ExAC: 1:6529215 CTCCTGCTCA / C
• MyVariant Identifiers: chr1:g.6529216_6529224del (hg19) ; chr1:g.6469156_6469164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469160_6469168del , CM000663.2:g.6469160_6469168del	GRCh38
NC_000001.10:g.6529220_6529228del , CM000663.1:g.6529220_6529228del	GRCh37
NC_000001.9:g.6451807_6451815del	NCBI36
NG_007978.1:g.55846_55854del , LRG_262:g.55846_55854del
NG_029910.1:g.2032_2040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2127_2135del	ENSP00000344570.5:p.Asp709_Gln711del
ENST00000377728.8:c.2127_2135del MANE Select	ENSP00000366957.3:p.Asp709_Gln711del
ENST00000377740.5:c.2127_2135del	ENSP00000366969.4:p.Asp709_Gln711del
ENST00000377748.6:c.2301_2309del	ENSP00000366977.2:p.Asp767_Gln769del
ENST00000400913.6:c.2127_2135del	ENSP00000383704.1:p.Asp709_Gln711del
ENST00000400915.8:c.2238_2246del	ENSP00000383706.4:p.Asp746_Gln748del
ENST00000489097.6:n.2603_2611del
ENST00000535355.6:c.2334_2342del	ENSP00000441445.1:p.Asp778_Gln780del
ENST00000537245.6:c.2238_2246del	ENSP00000439625.2:p.Asp746_Gln748del
ENST00000673471.2:c.2424_2432del	ENSP00000500749.1:p.Asp808_Gln810del
ENST00000674790.1:c.*2339_*2347del	ENSP00000502815.1:n.*2339_*2347del
ENST00000675123.1:c.2127_2135del	ENSP00000502132.1:p.Asp709_Gln711del
ENST00000675139.1:n.198_206del
ENST00000675548.1:c.*1955_*1963del	ENSP00000502684.1:n.*1955_*1963del
ENST00000675694.1:c.2127_2135del	ENSP00000501925.1:p.Asp709_Gln711del
ENST00000340850.9:c.2127_2135del	ENSP00000344570.5:p.Asp709_Gln711del
ENST00000377725.5:c.2127_2135del	ENSP00000366954.1:p.Asp709_Gln711del
ENST00000377728.7:c.2127_2135del	ENSP00000366957.3:p.Asp709_Gln711del
ENST00000377732.5:c.2238_2246del	ENSP00000366961.1:p.Asp746_Gln748del
ENST00000377740.4:c.2358_2366del	ENSP00000366969.3:p.Asp786_Gln788del
ENST00000377748.5:c.2358_2366del	ENSP00000366977.1:p.Asp786_Gln788del
ENST00000400913.5:c.2127_2135del	ENSP00000383704.1:p.Asp709_Gln711del
ENST00000400915.7:c.2295_2303del	ENSP00000383706.3:p.Asp765_Gln767del
ENST00000487949.4:n.1329_1337del
ENST00000489097.5:n.2603_2611del
ENST00000535355.5:c.2334_2342del	ENSP00000441445.1:p.Asp778_Gln780del
ENST00000537245.5:c.2364_2372del	ENSP00000439625.1:p.Asp788_Gln790del
NM_001042663.1:c.2295_2303del	NP_001036128.1:p.Asp765_Gln767del
NM_001042664.1:c.2127_2135del	NP_001036129.1:p.Asp709_Gln711del
NM_001042665.1:c.2127_2135del	NP_001036130.1:p.Asp709_Gln711del
NM_001265592.1:c.2364_2372del	NP_001252521.1:p.Asp788_Gln790del
NM_001265593.1:c.2334_2342del	NP_001252522.1:p.Asp778_Gln780del
NM_001265594.1:c.2127_2135del	NP_001252523.1:p.Asp709_Gln711del
NM_020631.4:c.2127_2135del	NP_065682.2:p.Asp709_Gln711del
NM_198681.3:c.2358_2366del	NP_941374.2:p.Asp786_Gln788del
NM_001042663.2:c.2295_2303del	NP_001036128.1:p.Asp765_Gln767del
NM_001265594.2:c.2127_2135del	NP_001252523.1:p.Asp709_Gln711del
NM_020631.5:c.2127_2135del	NP_065682.2:p.Asp709_Gln711del
NM_001042663.3:c.2238_2246del	NP_001036128.2:p.Asp746_Gln748del
NM_001265592.2:c.2238_2246del	NP_001252521.2:p.Asp746_Gln748del
NM_020631.6:c.2127_2135del MANE Select	NP_065682.2:p.Asp709_Gln711del
NM_198681.4:c.2127_2135del	NP_941374.3:p.Asp709_Gln711del