Canonical Allele Identifier: CA1031837415
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1673415519

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371885del , CM000664.2:g.68371885del GRCh38
NC_000002.11:g.68599017del , CM000664.1:g.68599017del GRCh37
NC_000002.10:g.68452521del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6492del MANE Select ENSP00000234313.7:n.42+6492del
ENST00000234313.7:c.42+6492del ENSP00000234313.7:n.42+6492del
NM_002664.2:c.42+6492del NP_002655.2:n.42+6492del
XM_011532916.1:c.42+6492del XP_011531218.1:n.42+6492del
NM_002664.3:c.42+6492del MANE Select NP_002655.2:n.42+6492del