Canonical Allele Identifier: CA645511757
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6470569dup , CM000663.2:g.6470569dup GRCh38
NC_000001.10:g.6530629dup , CM000663.1:g.6530629dup GRCh37
NC_000001.9:g.6453216dup NCBI36
NG_007978.1:g.54442dup , LRG_262:g.54442dup
NG_029910.1:g.628dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.1618dup ENSP00000344570.5:p.Ala540GlyfsTer?
ENST00000377728.8:c.1618dup MANE Select ENSP00000366957.3:p.Ala540GlyfsTer?
ENST00000377740.5:c.1618dup ENSP00000366969.4:p.Ala540GlyfsTer?
ENST00000377748.6:c.1792dup ENSP00000366977.2:p.Ala598GlyfsTer?
ENST00000400913.6:c.1618dup ENSP00000383704.1:p.Ala540GlyfsTer?
ENST00000400915.8:c.1729dup ENSP00000383706.4:p.Ala577GlyfsTer?
ENST00000489097.6:n.2094dup
ENST00000535355.6:c.1825dup ENSP00000441445.1:p.Ala609GlyfsTer?
ENST00000537245.6:c.1729dup ENSP00000439625.2:p.Ala577GlyfsTer?
ENST00000673471.2:c.1915dup ENSP00000500749.1:p.Ala639GlyfsTer?
ENST00000674790.1:c.*1830dup ENSP00000502815.1:n.*1830dup
ENST00000674943.1:n.280dup
ENST00000675123.1:c.1618dup ENSP00000502132.1:p.Ala540GlyfsTer?
ENST00000675548.1:c.*1446dup ENSP00000502684.1:n.*1446dup
ENST00000675694.1:c.1618dup ENSP00000501925.1:p.Ala540GlyfsTer?
ENST00000676401.1:n.165dup
ENST00000340850.9:c.1618dup ENSP00000344570.5:p.Ala540GlyfsTer?
ENST00000377725.5:c.1618dup ENSP00000366954.1:p.Ala540GlyfsTer?
ENST00000377728.7:c.1618dup ENSP00000366957.3:p.Ala540GlyfsTer?
ENST00000377732.5:c.1729dup ENSP00000366961.1:p.Ala577GlyfsTer?
ENST00000377740.4:c.1849dup ENSP00000366969.3:p.Ala617GlyfsTer?
ENST00000377748.5:c.1849dup ENSP00000366977.1:p.Ala617GlyfsTer?
ENST00000400913.5:c.1618dup ENSP00000383704.1:p.Ala540GlyfsTer?
ENST00000400915.7:c.1786dup ENSP00000383706.3:p.Ala596GlyfsTer?
ENST00000487949.4:n.820dup
ENST00000489097.5:n.2094dup
ENST00000535355.5:c.1825dup ENSP00000441445.1:p.Ala609GlyfsTer?
ENST00000537245.5:c.1855dup ENSP00000439625.1:p.Ala619GlyfsTer?
NM_001042663.1:c.1786dup NP_001036128.1:p.Ala596GlyfsTer?
NM_001042664.1:c.1618dup NP_001036129.1:p.Ala540GlyfsTer?
NM_001042665.1:c.1618dup NP_001036130.1:p.Ala540GlyfsTer?
NM_001265592.1:c.1855dup NP_001252521.1:p.Ala619GlyfsTer?
NM_001265593.1:c.1825dup NP_001252522.1:p.Ala609GlyfsTer?
NM_001265594.1:c.1618dup NP_001252523.1:p.Ala540GlyfsTer?
NM_020631.4:c.1618dup NP_065682.2:p.Ala540GlyfsTer?
NM_198681.3:c.1849dup NP_941374.2:p.Ala617GlyfsTer?
NM_001042663.2:c.1786dup NP_001036128.1:p.Ala596GlyfsTer?
NM_001265594.2:c.1618dup NP_001252523.1:p.Ala540GlyfsTer?
NM_020631.5:c.1618dup NP_065682.2:p.Ala540GlyfsTer?
NM_001042663.3:c.1729dup NP_001036128.2:p.Ala577GlyfsTer?
NM_001265592.2:c.1729dup NP_001252521.2:p.Ala577GlyfsTer?
NM_020631.6:c.1618dup MANE Select NP_065682.2:p.Ala540GlyfsTer?
NM_198681.4:c.1618dup NP_941374.3:p.Ala540GlyfsTer?