Canonical Allele Identifier: CA892332664
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs1553356861
gnomAD v3: 2-68371796-A-AG
gnomAD v4: 2-68371796-A-AG
MyVariant Identifiers: chr2:g.68598928_68598929insG (hg19) chr2:g.68371796_68371797insG (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6404dup MANE Select ENSP00000234313.7:n.42+6404dup
ENST00000234313.7:c.42+6404dup ENSP00000234313.7:n.42+6404dup
NM_002664.2:c.42+6404dup NP_002655.2:n.42+6404dup
XM_011532916.1:c.42+6404dup XP_011531218.1:n.42+6404dup
NM_002664.3:c.42+6404dup MANE Select NP_002655.2:n.42+6404dup
Search 100 bp 5'
Search 100 bp 3'