Canonical Allele Identifier: CA2574193855
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6469081dup , CM000663.2:g.6469081dup GRCh38
NC_000001.10:g.6529141dup , CM000663.1:g.6529141dup GRCh37
NC_000001.9:g.6451728dup NCBI36
NG_007978.1:g.55929dup , LRG_262:g.55929dup
NG_029910.1:g.2115dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.2210dup ENSP00000344570.5:p.Met738HisfsTer?
ENST00000377728.8:c.2210dup MANE Select ENSP00000366957.3:p.Met738HisfsTer?
ENST00000377740.5:c.2210dup ENSP00000366969.4:p.Met738HisfsTer?
ENST00000377748.6:c.2384dup ENSP00000366977.2:p.Met796HisfsTer?
ENST00000400913.6:c.2210dup ENSP00000383704.1:p.Met738HisfsTer?
ENST00000400915.8:c.2321dup ENSP00000383706.4:p.Met775HisfsTer?
ENST00000489097.6:n.2686dup
ENST00000535355.6:c.2417dup ENSP00000441445.1:p.Met807HisfsTer?
ENST00000537245.6:c.2321dup ENSP00000439625.2:p.Met775HisfsTer?
ENST00000673471.2:c.2507dup ENSP00000500749.1:p.Met837HisfsTer?
ENST00000674790.1:c.*2422dup ENSP00000502815.1:n.*2422dup
ENST00000675123.1:c.2210dup ENSP00000502132.1:p.Met738HisfsTer30
ENST00000675139.1:n.281dup
ENST00000675548.1:c.*2038dup ENSP00000502684.1:n.*2038dup
ENST00000675694.1:c.2210dup ENSP00000501925.1:p.Met738HisfsTer?
ENST00000675976.1:c.83dup ENSP00000501611.1:p.Met29HisfsTer?
ENST00000340850.9:c.2210dup ENSP00000344570.5:p.Met738HisfsTer?
ENST00000377725.5:c.2210dup ENSP00000366954.1:p.Met738HisfsTer?
ENST00000377728.7:c.2210dup ENSP00000366957.3:p.Met738HisfsTer?
ENST00000377732.5:c.2321dup ENSP00000366961.1:p.Met775HisfsTer?
ENST00000377740.4:c.2441dup ENSP00000366969.3:p.Met815HisfsTer30
ENST00000377748.5:c.2441dup ENSP00000366977.1:p.Met815HisfsTer?
ENST00000400913.5:c.2210dup ENSP00000383704.1:p.Met738HisfsTer?
ENST00000400915.7:c.2378dup ENSP00000383706.3:p.Met794HisfsTer?
ENST00000487949.4:n.1412dup
ENST00000489097.5:n.2686dup
ENST00000535355.5:c.2417dup ENSP00000441445.1:p.Met807HisfsTer?
ENST00000537245.5:c.2447dup ENSP00000439625.1:p.Met817HisfsTer?
NM_001042663.1:c.2378dup NP_001036128.1:p.Met794HisfsTer?
NM_001042664.1:c.2210dup NP_001036129.1:p.Met738HisfsTer?
NM_001042665.1:c.2210dup NP_001036130.1:p.Met738HisfsTer?
NM_001265592.1:c.2447dup NP_001252521.1:p.Met817HisfsTer?
NM_001265593.1:c.2417dup NP_001252522.1:p.Met807HisfsTer?
NM_001265594.1:c.2210dup NP_001252523.1:p.Met738HisfsTer?
NM_020631.4:c.2210dup NP_065682.2:p.Met738HisfsTer?
NM_198681.3:c.2441dup NP_941374.2:p.Met815HisfsTer?
NM_001042663.2:c.2378dup NP_001036128.1:p.Met794HisfsTer?
NM_001265594.2:c.2210dup NP_001252523.1:p.Met738HisfsTer?
NM_020631.5:c.2210dup NP_065682.2:p.Met738HisfsTer?
NM_001042663.3:c.2321dup NP_001036128.2:p.Met775HisfsTer?
NM_001265592.2:c.2321dup NP_001252521.2:p.Met775HisfsTer?
NM_020631.6:c.2210dup MANE Select NP_065682.2:p.Met738HisfsTer?
NM_198681.4:c.2210dup NP_941374.3:p.Met738HisfsTer?