Canonical Allele Identifier: CA49440527
Gene: PLEK HGNC NCBI

Linked Data

dbSNP Id: rs201394836
gnomAD v2: 2-68598916-CACA-C
gnomAD v3: 2-68371784-CACA-C
gnomAD v4: 2-68371784-CACA-C
MyVariant Identifiers: chr2:g.68598917_68598919del (hg19) chr2:g.68371785_68371787del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371787_68371789del , CM000664.2:g.68371787_68371789del GRCh38
NC_000002.11:g.68598919_68598921del , CM000664.1:g.68598919_68598921del GRCh37
NC_000002.10:g.68452423_68452425del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000234313.8:c.42+6394_42+6396del MANE Select ENSP00000234313.7:n.42+6394_42+6396del
ENST00000234313.7:c.42+6394_42+6396del ENSP00000234313.7:n.42+6394_42+6396del
NM_002664.2:c.42+6394_42+6396del NP_002655.2:n.42+6394_42+6396del
XM_011532916.1:c.42+6394_42+6396del XP_011531218.1:n.42+6394_42+6396del
NM_002664.3:c.42+6394_42+6396del MANE Select NP_002655.2:n.42+6394_42+6396del
Search 100 bp 5'
Search 100 bp 3'