Canonical Allele Identifier: CA533396679

Gene: PLEK

Linked Data

• dbSNP Id: rs1158678764
• gnomAD v2: 2-68598972-TC-T
• gnomAD v3: 2-68371840-TC-T
• gnomAD v4: 2-68371840-TC-T
• MyVariant Identifiers: chr2:g.68598973del (hg19) ; chr2:g.68371841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.68371842del , CM000664.2:g.68371842del	GRCh38
NC_000002.11:g.68598974del , CM000664.1:g.68598974del	GRCh37
NC_000002.10:g.68452478del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000234313.8:c.42+6449del MANE Select	ENSP00000234313.7:n.42+6449del
ENST00000234313.7:c.42+6449del	ENSP00000234313.7:n.42+6449del
NM_002664.2:c.42+6449del	NP_002655.2:n.42+6449del
XM_011532916.1:c.42+6449del	XP_011531218.1:n.42+6449del
NM_002664.3:c.42+6449del MANE Select	NP_002655.2:n.42+6449del