Canonical Allele Identifier: CA1258629525
Gene: PLEK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371797_68371798delinsGT , CM000664.2:g.68371797_68371798delinsGT GRCh38
NC_000002.11:g.68598929_68598930delinsGT , CM000664.1:g.68598929_68598930delinsGT GRCh37
NC_000002.10:g.68452433_68452434delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6404_42+6405delinsGT MANE Select ENSP00000234313.7:n.42+6404_42+6405delinsGT
ENST00000234313.7:c.42+6404_42+6405delinsGT ENSP00000234313.7:n.42+6404_42+6405delinsGT
NM_002664.2:c.42+6404_42+6405delinsGT NP_002655.2:n.42+6404_42+6405delinsGT
XM_011532916.1:c.42+6404_42+6405delinsGT XP_011531218.1:n.42+6404_42+6405delinsGT
NM_002664.3:c.42+6404_42+6405delinsGT MANE Select NP_002655.2:n.42+6404_42+6405delinsGT
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