Canonical Allele Identifier: CA2580100396

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1709369
• ClinVar RCV Id: RCV002289184

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18584332_18584335dup , CM000685.2:g.18584332_18584335dup	GRCh38
NC_000023.10:g.18602452_18602455dup , CM000685.1:g.18602452_18602455dup	GRCh37
NC_000023.9:g.18512373_18512376dup	NCBI36
NG_008475.1:g.163728_163731dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.533_536dup MANE Select	ENSP00000485244.1:p.Pro180ValfsTer27
ENST00000635828.1:c.533_536dup	ENSP00000490170.1:p.Pro180ValfsTer27
ENST00000637881.1:c.533_536dup	ENSP00000489879.1:p.Pro180ValfsTer27
ENST00000674046.1:c.533_536dup	ENSP00000501174.1:p.Pro180ValfsTer27
ENST00000379989.6:c.533_536dup	ENSP00000369325.3:p.Pro180ValfsTer27
ENST00000379996.7:c.533_536dup	ENSP00000369332.3:p.Pro180ValfsTer27
ENST00000463994.4:c.533_536dup	ENSP00000485184.1:p.Pro180ValfsTer27
ENST00000623535.1:c.533_536dup	ENSP00000485244.1:p.Pro180ValfsTer27
NM_001037343.1:c.533_536dup	NP_001032420.1:p.Pro180ValfsTer27
NM_003159.2:c.533_536dup	NP_003150.1:p.Pro180ValfsTer27
XM_011545569.1:c.533_536dup	XP_011543871.1:p.Pro180ValfsTer27
XM_011545570.1:c.401_404dup	XP_011543872.1:p.Pro136ValfsTer27
XR_950484.1:n.785_788dup
NM_001323289.1:c.533_536dup	NP_001310218.1:p.Pro180ValfsTer27
NM_001323289.2:c.533_536dup MANE Select	NP_001310218.1:p.Pro180ValfsTer27
NM_001037343.2:c.533_536dup	NP_001032420.1:p.Pro180ValfsTer27
NM_003159.3:c.533_536dup	NP_003150.1:p.Pro180ValfsTer27