Canonical Allele Identifier: CA2750333336

Gene: PLEK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.68371910del , CM000664.2:g.68371910del	GRCh38
NC_000002.11:g.68599042del , CM000664.1:g.68599042del	GRCh37
NC_000002.10:g.68452546del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234313.8:c.42+6517del MANE Select	ENSP00000234313.7:n.42+6517del
ENST00000234313.7:c.42+6517del	ENSP00000234313.7:n.42+6517del
NM_002664.2:c.42+6517del	NP_002655.2:n.42+6517del
XM_011532916.1:c.42+6517del	XP_011531218.1:n.42+6517del
NM_002664.3:c.42+6517del MANE Select	NP_002655.2:n.42+6517del