Canonical Allele Identifier: CA2695231300
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603954_18603955insGAC , CM000685.2:g.18603954_18603955insGAC GRCh38
NC_000023.10:g.18622074_18622075insGAC , CM000685.1:g.18622074_18622075insGAC GRCh37
NC_000023.9:g.18531995_18531996insGAC NCBI36
NG_008475.1:g.183350_183351insGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1030_1031insGAC MANE Select ENSP00000485244.1:p.Lys344delinsArgGln
ENST00000635828.1:c.1030_1031insGAC ENSP00000490170.1:p.Lys344delinsArgGln
ENST00000637881.1:c.1030_1031insGAC ENSP00000489879.1:p.Lys344delinsArgGln
ENST00000674046.1:c.1030_1031insGAC ENSP00000501174.1:p.Lys344delinsArgGln
ENST00000379989.6:c.1030_1031insGAC ENSP00000369325.3:p.Lys344delinsArgGln
ENST00000379996.7:c.1030_1031insGAC ENSP00000369332.3:p.Lys344delinsArgGln
ENST00000463994.4:c.1030_1031insGAC ENSP00000485184.1:p.Lys344delinsArgGln
ENST00000623535.1:c.1030_1031insGAC ENSP00000485244.1:p.Lys344delinsArgGln
NM_001037343.1:c.1030_1031insGAC NP_001032420.1:p.Lys344delinsArgGln
NM_003159.2:c.1030_1031insGAC NP_003150.1:p.Lys344delinsArgGln
XM_011545569.1:c.979_980insGAC XP_011543871.1:p.Lys327delinsArgGln
XM_011545570.1:c.898_899insGAC XP_011543872.1:p.Lys300delinsArgGln
XR_950484.1:n.1282_1283insGAC
NM_001323289.1:c.1030_1031insGAC NP_001310218.1:p.Lys344delinsArgGln
NM_001323289.2:c.1030_1031insGAC MANE Select NP_001310218.1:p.Lys344delinsArgGln
NM_001037343.2:c.1030_1031insGAC NP_001032420.1:p.Lys344delinsArgGln
NM_003159.3:c.1030_1031insGAC NP_003150.1:p.Lys344delinsArgGln
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