Canonical Allele Identifier: CA561231

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1491581266
• ExAC: 1:6529186 TCC / T
• gnomAD v2: 1-6529186-TCC-T
• gnomAD v3: 1-6469126-TCC-T
• gnomAD v4: 1-6469126-TCC-T
• MyVariant Identifiers: chr1:g.6529187_6529188del (hg19) ; chr1:g.6469127_6469128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469127_6469128del , CM000663.2:g.6469127_6469128del	GRCh38
NC_000001.10:g.6529187_6529188del , CM000663.1:g.6529187_6529188del	GRCh37
NC_000001.9:g.6451774_6451775del	NCBI36
NG_007978.1:g.55882_55883del , LRG_262:g.55882_55883del
NG_029910.1:g.2068_2069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2163_2164del	ENSP00000344570.5:p.Glu722GlyfsTer?
ENST00000377728.8:c.2163_2164del MANE Select	ENSP00000366957.3:p.Glu722GlyfsTer?
ENST00000377740.5:c.2163_2164del	ENSP00000366969.4:p.Glu722GlyfsTer?
ENST00000377748.6:c.2337_2338del	ENSP00000366977.2:p.Glu780GlyfsTer?
ENST00000400913.6:c.2163_2164del	ENSP00000383704.1:p.Glu722GlyfsTer?
ENST00000400915.8:c.2274_2275del	ENSP00000383706.4:p.Glu759GlyfsTer?
ENST00000489097.6:n.2639_2640del
ENST00000535355.6:c.2370_2371del	ENSP00000441445.1:p.Glu791GlyfsTer?
ENST00000537245.6:c.2274_2275del	ENSP00000439625.2:p.Glu759GlyfsTer?
ENST00000673471.2:c.2460_2461del	ENSP00000500749.1:p.Glu821GlyfsTer?
ENST00000674790.1:c.*2375_*2376del	ENSP00000502815.1:n.*2375_*2376del
ENST00000675123.1:c.2163_2164del	ENSP00000502132.1:p.Glu722GlyfsTer?
ENST00000675139.1:n.234_235del
ENST00000675548.1:c.*1991_*1992del	ENSP00000502684.1:n.*1991_*1992del
ENST00000675694.1:c.2163_2164del	ENSP00000501925.1:p.Glu722GlyfsTer?
ENST00000675976.1:c.36_37del	ENSP00000501611.1:p.Glu13GlyfsTer?
ENST00000340850.9:c.2163_2164del	ENSP00000344570.5:p.Glu722GlyfsTer?
ENST00000377725.5:c.2163_2164del	ENSP00000366954.1:p.Glu722GlyfsTer?
ENST00000377728.7:c.2163_2164del	ENSP00000366957.3:p.Glu722GlyfsTer?
ENST00000377732.5:c.2274_2275del	ENSP00000366961.1:p.Glu759GlyfsTer?
ENST00000377740.4:c.2394_2395del	ENSP00000366969.3:p.Glu799GlyfsTer?
ENST00000377748.5:c.2394_2395del	ENSP00000366977.1:p.Glu799GlyfsTer?
ENST00000400913.5:c.2163_2164del	ENSP00000383704.1:p.Glu722GlyfsTer?
ENST00000400915.7:c.2331_2332del	ENSP00000383706.3:p.Glu778GlyfsTer?
ENST00000487949.4:n.1365_1366del
ENST00000489097.5:n.2639_2640del
ENST00000535355.5:c.2370_2371del	ENSP00000441445.1:p.Glu791GlyfsTer?
ENST00000537245.5:c.2400_2401del	ENSP00000439625.1:p.Glu801GlyfsTer?
NM_001042663.1:c.2331_2332del	NP_001036128.1:p.Glu778GlyfsTer?
NM_001042664.1:c.2163_2164del	NP_001036129.1:p.Glu722GlyfsTer?
NM_001042665.1:c.2163_2164del	NP_001036130.1:p.Glu722GlyfsTer?
NM_001265592.1:c.2400_2401del	NP_001252521.1:p.Glu801GlyfsTer?
NM_001265593.1:c.2370_2371del	NP_001252522.1:p.Glu791GlyfsTer?
NM_001265594.1:c.2163_2164del	NP_001252523.1:p.Glu722GlyfsTer?
NM_020631.4:c.2163_2164del	NP_065682.2:p.Glu722GlyfsTer?
NM_198681.3:c.2394_2395del	NP_941374.2:p.Glu799GlyfsTer?
NM_001042663.2:c.2331_2332del	NP_001036128.1:p.Glu778GlyfsTer?
NM_001265594.2:c.2163_2164del	NP_001252523.1:p.Glu722GlyfsTer?
NM_020631.5:c.2163_2164del	NP_065682.2:p.Glu722GlyfsTer?
NM_001042663.3:c.2274_2275del	NP_001036128.2:p.Glu759GlyfsTer?
NM_001265592.2:c.2274_2275del	NP_001252521.2:p.Glu759GlyfsTer?
NM_020631.6:c.2163_2164del MANE Select	NP_065682.2:p.Glu722GlyfsTer?
NM_198681.4:c.2163_2164del	NP_941374.3:p.Glu722GlyfsTer?