Canonical Allele Identifier: CA1258629613

Gene: PLEK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.68371992_68371993delinsGT , CM000664.2:g.68371992_68371993delinsGT	GRCh38
NC_000002.11:g.68599124_68599125delinsGT , CM000664.1:g.68599124_68599125delinsGT	GRCh37
NC_000002.10:g.68452628_68452629delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234313.8:c.42+6599_42+6600delinsGT MANE Select	ENSP00000234313.7:n.42+6599_42+6600delinsGT
ENST00000234313.7:c.42+6599_42+6600delinsGT	ENSP00000234313.7:n.42+6599_42+6600delinsGT
NM_002664.2:c.42+6599_42+6600delinsGT	NP_002655.2:n.42+6599_42+6600delinsGT
XM_011532916.1:c.42+6599_42+6600delinsGT	XP_011531218.1:n.42+6599_42+6600delinsGT
NM_002664.3:c.42+6599_42+6600delinsGT MANE Select	NP_002655.2:n.42+6599_42+6600delinsGT