Canonical Allele Identifier: CA1031837387
Gene: PLEK HGNC NCBI

Linked Data

gnomAD v3: 2-68371811-G-T
gnomAD v4: 2-68371811-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371811G>T , CM000664.2:g.68371811G>T GRCh38
NC_000002.11:g.68598943G>T , CM000664.1:g.68598943G>T GRCh37
NC_000002.10:g.68452447G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6418G>T MANE Select ENSP00000234313.7:n.42+6418G>T
ENST00000234313.7:c.42+6418G>T ENSP00000234313.7:n.42+6418G>T
NM_002664.2:c.42+6418G>T NP_002655.2:n.42+6418G>T
XM_011532916.1:c.42+6418G>T XP_011531218.1:n.42+6418G>T
NM_002664.3:c.42+6418G>T MANE Select NP_002655.2:n.42+6418G>T
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