Canonical Allele Identifier: CA521018691

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1276452392
• gnomAD v2: 1-6529203-C-CTCT
• gnomAD v4: 1-6469143-C-CTCT
• MyVariant Identifiers: chr1:g.6529203_6529204insTCT (hg19) ; chr1:g.6469143_6469144insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469145_6469146insTTC , CM000663.2:g.6469145_6469146insTTC	GRCh38
NC_000001.10:g.6529205_6529206insTTC , CM000663.1:g.6529205_6529206insTTC	GRCh37
NC_000001.9:g.6451792_6451793insTTC	NCBI36
NG_007978.1:g.55866_55867insAGA , LRG_262:g.55866_55867insAGA
NG_029910.1:g.2052_2053insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2147_2148insAGA	ENSP00000344570.5:p.Glu716_Glu717insGlu
ENST00000377728.8:c.2147_2148insAGA MANE Select	ENSP00000366957.3:p.Glu716_Glu717insGlu
ENST00000377740.5:c.2147_2148insAGA	ENSP00000366969.4:p.Glu716_Glu717insGlu
ENST00000377748.6:c.2321_2322insAGA	ENSP00000366977.2:p.Glu774_Glu775insGlu
ENST00000400913.6:c.2147_2148insAGA	ENSP00000383704.1:p.Glu716_Glu717insGlu
ENST00000400915.8:c.2258_2259insAGA	ENSP00000383706.4:p.Glu753_Glu754insGlu
ENST00000489097.6:n.2623_2624insAGA
ENST00000535355.6:c.2354_2355insAGA	ENSP00000441445.1:p.Glu785_Glu786insGlu
ENST00000537245.6:c.2258_2259insAGA	ENSP00000439625.2:p.Glu753_Glu754insGlu
ENST00000673471.2:c.2444_2445insAGA	ENSP00000500749.1:p.Glu815_Glu816insGlu
ENST00000674790.1:c.*2359_*2360insAGA	ENSP00000502815.1:n.*2359_*2360insAGA
ENST00000675123.1:c.2147_2148insAGA	ENSP00000502132.1:p.Glu716_Glu717insGlu
ENST00000675139.1:n.218_219insAGA
ENST00000675548.1:c.*1975_*1976insAGA	ENSP00000502684.1:n.*1975_*1976insAGA
ENST00000675694.1:c.2147_2148insAGA	ENSP00000501925.1:p.Glu716_Glu717insGlu
ENST00000675976.1:c.20_21insAGA	ENSP00000501611.1:p.Glu7_Glu8insGlu
ENST00000340850.9:c.2147_2148insAGA	ENSP00000344570.5:p.Glu716_Glu717insGlu
ENST00000377725.5:c.2147_2148insAGA	ENSP00000366954.1:p.Glu716_Glu717insGlu
ENST00000377728.7:c.2147_2148insAGA	ENSP00000366957.3:p.Glu716_Glu717insGlu
ENST00000377732.5:c.2258_2259insAGA	ENSP00000366961.1:p.Glu753_Glu754insGlu
ENST00000377740.4:c.2378_2379insAGA	ENSP00000366969.3:p.Glu793_Glu794insGlu
ENST00000377748.5:c.2378_2379insAGA	ENSP00000366977.1:p.Glu793_Glu794insGlu
ENST00000400913.5:c.2147_2148insAGA	ENSP00000383704.1:p.Glu716_Glu717insGlu
ENST00000400915.7:c.2315_2316insAGA	ENSP00000383706.3:p.Glu772_Glu773insGlu
ENST00000487949.4:n.1349_1350insAGA
ENST00000489097.5:n.2623_2624insAGA
ENST00000535355.5:c.2354_2355insAGA	ENSP00000441445.1:p.Glu785_Glu786insGlu
ENST00000537245.5:c.2384_2385insAGA	ENSP00000439625.1:p.Glu795_Glu796insGlu
NM_001042663.1:c.2315_2316insAGA	NP_001036128.1:p.Glu772_Glu773insGlu
NM_001042664.1:c.2147_2148insAGA	NP_001036129.1:p.Glu716_Glu717insGlu
NM_001042665.1:c.2147_2148insAGA	NP_001036130.1:p.Glu716_Glu717insGlu
NM_001265592.1:c.2384_2385insAGA	NP_001252521.1:p.Glu795_Glu796insGlu
NM_001265593.1:c.2354_2355insAGA	NP_001252522.1:p.Glu785_Glu786insGlu
NM_001265594.1:c.2147_2148insAGA	NP_001252523.1:p.Glu716_Glu717insGlu
NM_020631.4:c.2147_2148insAGA	NP_065682.2:p.Glu716_Glu717insGlu
NM_198681.3:c.2378_2379insAGA	NP_941374.2:p.Glu793_Glu794insGlu
NM_001042663.2:c.2315_2316insAGA	NP_001036128.1:p.Glu772_Glu773insGlu
NM_001265594.2:c.2147_2148insAGA	NP_001252523.1:p.Glu716_Glu717insGlu
NM_020631.5:c.2147_2148insAGA	NP_065682.2:p.Glu716_Glu717insGlu
NM_001042663.3:c.2258_2259insAGA	NP_001036128.2:p.Glu753_Glu754insGlu
NM_001265592.2:c.2258_2259insAGA	NP_001252521.2:p.Glu753_Glu754insGlu
NM_020631.6:c.2147_2148insAGA MANE Select	NP_065682.2:p.Glu716_Glu717insGlu
NM_198681.4:c.2147_2148insAGA	NP_941374.3:p.Glu716_Glu717insGlu