Canonical Allele Identifier: CA1258629553
Gene: PLEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371854A= , CM000664.2:g.68371854A= GRCh38
NC_000002.11:g.68598986A= , CM000664.1:g.68598986A= GRCh37
NC_000002.10:g.68452490A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6461A= MANE Select ENSP00000234313.7:n.42+6461A=
ENST00000234313.7:c.42+6461A= ENSP00000234313.7:n.42+6461A=
NM_002664.2:c.42+6461A= NP_002655.2:n.42+6461A=
XM_011532916.1:c.42+6461A= XP_011531218.1:n.42+6461A=
NM_002664.3:c.42+6461A= MANE Select NP_002655.2:n.42+6461A=