Canonical Allele Identifier: CA1258629471
Gene: PLEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371673G= , CM000664.2:g.68371673G= GRCh38
NC_000002.11:g.68598805G= , CM000664.1:g.68598805G= GRCh37
NC_000002.10:g.68452309G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6280G= MANE Select ENSP00000234313.7:n.42+6280G=
ENST00000234313.7:c.42+6280G= ENSP00000234313.7:n.42+6280G=
NM_002664.2:c.42+6280G= NP_002655.2:n.42+6280G=
XM_011532916.1:c.42+6280G= XP_011531218.1:n.42+6280G=
NM_002664.3:c.42+6280G= MANE Select NP_002655.2:n.42+6280G=