Canonical Allele Identifier: CA16621283

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 423577
• ClinVar RCV Id: RCV000486131
• dbSNP Id: rs1064796503
• MyVariant Identifiers: chrX:g.18631350_18631384del (hg19) ; chrX:g.18613230_18613264del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18613230_18613264del , CM000685.2:g.18613230_18613264del	GRCh38
NC_000023.10:g.18631350_18631384del , CM000685.1:g.18631350_18631384del	GRCh37
NC_000023.9:g.18541271_18541305del	NCBI36
NG_008475.1:g.192626_192660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2231_2265del MANE Select	ENSP00000485244.1:p.Ser744IlefsTer8
ENST00000635828.1:c.2231_2265del	ENSP00000490170.1:p.Ser744IlefsTer8
ENST00000674046.1:c.2231_2265del	ENSP00000501174.1:p.Ser744IlefsTer8
ENST00000379989.6:c.2231_2265del	ENSP00000369325.3:p.Ser744IlefsTer8
ENST00000379996.7:c.2231_2265del	ENSP00000369332.3:p.Ser744IlefsTer8
ENST00000463994.4:c.2231_2265del	ENSP00000485184.1:p.Ser744IlefsTer8
ENST00000623535.1:c.2231_2265del	ENSP00000485244.1:p.Ser744IlefsTer8
NM_001037343.1:c.2231_2265del	NP_001032420.1:p.Ser744IlefsTer8
NM_003159.2:c.2231_2265del	NP_003150.1:p.Ser744IlefsTer8
XM_011545569.1:c.2180_2214del	XP_011543871.1:p.Ser727IlefsTer8
XM_011545570.1:c.2099_2133del	XP_011543872.1:p.Ser700IlefsTer8
XR_950484.1:n.2483_2517del
NM_001323289.1:c.2231_2265del	NP_001310218.1:p.Ser744IlefsTer8
NM_001323289.2:c.2231_2265del MANE Select	NP_001310218.1:p.Ser744IlefsTer8
NM_001037343.2:c.2231_2265del	NP_001032420.1:p.Ser744IlefsTer8
NM_003159.3:c.2231_2265del	NP_003150.1:p.Ser744IlefsTer8