Canonical Allele Identifier: CA533396666
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1267169884
gnomAD v2: 2-68598928-A-AC
gnomAD v3: 2-68371796-A-AC
gnomAD v4: 2-68371796-A-AC
MyVariant Identifiers: chr2:g.68598928_68598929insC (hg19) chr2:g.68371796_68371797insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371796_68371797insC , CM000664.2:g.68371796_68371797insC GRCh38
NC_000002.11:g.68598928_68598929insC , CM000664.1:g.68598928_68598929insC GRCh37
NC_000002.10:g.68452432_68452433insC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6403_42+6404insC MANE Select ENSP00000234313.7:n.42+6403_42+6404insC
ENST00000234313.7:c.42+6403_42+6404insC ENSP00000234313.7:n.42+6403_42+6404insC
NM_002664.2:c.42+6403_42+6404insC NP_002655.2:n.42+6403_42+6404insC
XM_011532916.1:c.42+6403_42+6404insC XP_011531218.1:n.42+6403_42+6404insC
NM_002664.3:c.42+6403_42+6404insC MANE Select NP_002655.2:n.42+6403_42+6404insC
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