Canonical Allele Identifier: CA49440542
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs55900996
gnomAD v2: 2-68598929-G-GT
gnomAD v3: 2-68371797-G-GT
gnomAD v4: 2-68371797-G-GT
MyVariant Identifiers: chr2:g.68598929_68598930insT (hg19) chr2:g.68371797_68371798insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371806dup , CM000664.2:g.68371806dup GRCh38
NC_000002.11:g.68598938dup , CM000664.1:g.68598938dup GRCh37
NC_000002.10:g.68452442dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6413dup MANE Select ENSP00000234313.7:n.42+6413dup
ENST00000234313.7:c.42+6413dup ENSP00000234313.7:n.42+6413dup
NM_002664.2:c.42+6413dup NP_002655.2:n.42+6413dup
XM_011532916.1:c.42+6413dup XP_011531218.1:n.42+6413dup
NM_002664.3:c.42+6413dup MANE Select NP_002655.2:n.42+6413dup
Search 100 bp 5'
Search 100 bp 3'