Canonical Allele Identifier: CA2642974623
Community Standard Title: NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6468208dup , CM000663.2:g.6468208dup GRCh38
NC_000001.10:g.6528268dup , CM000663.1:g.6528268dup GRCh37
NC_000001.9:g.6450855dup NCBI36
NG_007978.1:g.56802dup , LRG_262:g.56802dup
NG_029910.1:g.2988dup

Transcript Alleles

HGVS Amino-acid Change
NM_020631.6:c.2628dup MANE Select NP_065682.2:p.Lys877Ter
ENST00000377728.8:c.2628dup MANE Select ENSP00000366957.3:p.Lys877Ter
NM_001042663.1:c.2796dup NP_001036128.1:p.Lys933Ter
NM_001042663.2:c.2796dup NP_001036128.1:p.Lys933Ter
NM_001042663.3:c.2739dup NP_001036128.2:p.Lys914Ter
NM_001042664.1:c.2628dup NP_001036129.1:p.Lys877Ter
NM_001042665.1:c.2628dup NP_001036130.1:p.Lys877Ter
NM_001265592.1:c.2865dup NP_001252521.1:p.Lys956Ter
NM_001265592.2:c.2739dup NP_001252521.2:p.Lys914Ter
NM_001265593.1:c.2835dup NP_001252522.1:p.Lys946Ter
NM_001265594.1:c.2628dup NP_001252523.1:p.Lys877Ter
NM_001265594.2:c.2628dup NP_001252523.1:p.Lys877Ter
NM_020631.4:c.2628dup NP_065682.2:p.Lys877Ter
NM_020631.5:c.2628dup NP_065682.2:p.Lys877Ter
NM_198681.3:c.2859dup NP_941374.2:p.Lys954Ter
NM_198681.4:c.2628dup NP_941374.3:p.Lys877Ter
ENST00000340850.10:c.2628dup ENSP00000344570.5:p.Lys877Ter
ENST00000340850.9:c.2628dup ENSP00000344570.5:p.Lys877Ter
ENST00000377725.5:c.2628dup ENSP00000366954.1:p.Lys877Ter
ENST00000377728.7:c.2628dup ENSP00000366957.3:p.Lys877Ter
ENST00000377732.5:c.2739dup ENSP00000366961.1:p.Lys914Ter
ENST00000377740.4:c.2481-315dup ENSP00000366969.3:n.2481-315dup
ENST00000377740.5:c.2628dup ENSP00000366969.4:p.Lys877Ter
ENST00000377748.5:c.2859dup ENSP00000366977.1:p.Lys954Ter
ENST00000377748.6:c.2802dup ENSP00000366977.2:p.Lys935Ter
ENST00000400913.5:c.2628dup ENSP00000383704.1:p.Lys877Ter
ENST00000400913.6:c.2628dup ENSP00000383704.1:p.Lys877Ter
ENST00000400915.7:c.2796dup ENSP00000383706.3:p.Lys933Ter
ENST00000400915.8:c.2739dup ENSP00000383706.4:p.Lys914Ter
ENST00000487949.4:n.1830dup
ENST00000489097.5:n.3104dup
ENST00000489097.6:n.3104dup
ENST00000535355.5:c.2835dup ENSP00000441445.1:p.Lys946Ter
ENST00000535355.6:c.2835dup ENSP00000441445.1:p.Lys946Ter
ENST00000537245.5:c.2865dup ENSP00000439625.1:p.Lys956Ter
ENST00000537245.6:c.2739dup ENSP00000439625.2:p.Lys914Ter
ENST00000673471.2:c.2925dup ENSP00000500749.1:p.Lys976Ter
ENST00000674790.1:c.*2840dup ENSP00000502815.1:n.*2840dup
ENST00000675123.1:c.2250-315dup ENSP00000502132.1:n.2250-315dup
ENST00000675548.1:c.*2456dup ENSP00000502684.1:n.*2456dup
ENST00000675694.1:c.2628dup ENSP00000501925.1:p.Lys877Ter
ENST00000675976.1:c.501dup ENSP00000501611.1:p.Lys168Ter