Canonical Allele Identifier: CA2693223300

Gene: CDKL5

Linked Data

• gnomAD v4: X-18619935-C-CAATGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619938_18619943dup , CM000685.2:g.18619938_18619943dup	GRCh38
NC_000023.10:g.18638058_18638063dup , CM000685.1:g.18638058_18638063dup	GRCh37
NC_000023.9:g.18547979_18547984dup	NCBI36
NG_008475.1:g.199334_199339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2348_2353dup MANE Select	ENSP00000485244.1:p.Lys784_Lys785insMetLys
ENST00000635828.1:c.2348_2353dup	ENSP00000490170.1:p.Lys784_Lys785insMetLys
ENST00000674046.1:c.2348_2353dup	ENSP00000501174.1:p.Lys784_Lys785insMetLys
ENST00000379989.6:c.2348_2353dup	ENSP00000369325.3:p.Lys784_Lys785insMetLys
ENST00000379996.7:c.2348_2353dup	ENSP00000369332.3:p.Lys784_Lys785insMetLys
ENST00000463994.4:c.2348_2353dup	ENSP00000485184.1:p.Lys784_X785insMetLys
ENST00000623535.1:c.2348_2353dup	ENSP00000485244.1:p.Lys784_Lys785insMetLys
NM_001037343.1:c.2348_2353dup	NP_001032420.1:p.Lys784_Lys785insMetLys
NM_003159.2:c.2348_2353dup	NP_003150.1:p.Lys784_Lys785insMetLys
XM_011545569.1:c.2297_2302dup	XP_011543871.1:p.Lys767_Lys768insMetLys
XM_011545570.1:c.2216_2221dup	XP_011543872.1:p.Lys740_Lys741insMetLys
XR_950484.1:n.2600_2605dup
NM_001323289.1:c.2348_2353dup	NP_001310218.1:p.Lys784_Lys785insMetLys
NM_001323289.2:c.2348_2353dup MANE Select	NP_001310218.1:p.Lys784_Lys785insMetLys
NM_001037343.2:c.2348_2353dup	NP_001032420.1:p.Lys784_Lys785insMetLys
NM_003159.3:c.2348_2353dup	NP_003150.1:p.Lys784_Lys785insMetLys