Canonical Allele Identifier: CA533396681
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1365188131
gnomAD v2: 2-68598973-C-CA
gnomAD v3: 2-68371841-C-CA
gnomAD v4: 2-68371841-C-CA
MyVariant Identifiers: chr2:g.68598973_68598974insA (hg19) chr2:g.68371841_68371842insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371841_68371842insA , CM000664.2:g.68371841_68371842insA GRCh38
NC_000002.11:g.68598973_68598974insA , CM000664.1:g.68598973_68598974insA GRCh37
NC_000002.10:g.68452477_68452478insA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6448_42+6449insA MANE Select ENSP00000234313.7:n.42+6448_42+6449insA
ENST00000234313.7:c.42+6448_42+6449insA ENSP00000234313.7:n.42+6448_42+6449insA
NM_002664.2:c.42+6448_42+6449insA NP_002655.2:n.42+6448_42+6449insA
XM_011532916.1:c.42+6448_42+6449insA XP_011531218.1:n.42+6448_42+6449insA
NM_002664.3:c.42+6448_42+6449insA MANE Select NP_002655.2:n.42+6448_42+6449insA
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