Canonical Allele Identifier: CA1258629547
Gene: PLEK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68371842_68371843delinsCT , CM000664.2:g.68371842_68371843delinsCT GRCh38
NC_000002.11:g.68598974_68598975delinsCT , CM000664.1:g.68598974_68598975delinsCT GRCh37
NC_000002.10:g.68452478_68452479delinsCT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000234313.8:c.42+6449_42+6450delinsCT MANE Select ENSP00000234313.7:n.42+6449_42+6450delins...
ENST00000234313.7:c.42+6449_42+6450delinsCT ENSP00000234313.7:n.42+6449_42+6450delins...
NM_002664.2:c.42+6449_42+6450delinsCT NP_002655.2:n.42+6449_42+6450delinsCT
XM_011532916.1:c.42+6449_42+6450delinsCT XP_011531218.1:n.42+6449_42+6450delinsCT
NM_002664.3:c.42+6449_42+6450delinsCT MANE Select NP_002655.2:n.42+6449_42+6450delinsCT