Canonical Allele Identifier: CA16621278

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 422734
• ClinVar RCV Id: RCV000487055
• dbSNP Id: rs1064793376
• MyVariant Identifiers: chrX:g.18622820_18622821del (hg19) ; chrX:g.18604700_18604701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604700_18604701del , CM000685.2:g.18604700_18604701del	GRCh38
NC_000023.10:g.18622820_18622821del , CM000685.1:g.18622820_18622821del	GRCh37
NC_000023.9:g.18532741_18532742del	NCBI36
NG_008475.1:g.184096_184097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1776_1777del MANE Select	ENSP00000485244.1:p.Ser593LeufsTer17
ENST00000635828.1:c.1776_1777del	ENSP00000490170.1:p.Ser593LeufsTer17
ENST00000674046.1:c.1776_1777del	ENSP00000501174.1:p.Ser593LeufsTer17
ENST00000379989.6:c.1776_1777del	ENSP00000369325.3:p.Ser593LeufsTer17
ENST00000379996.7:c.1776_1777del	ENSP00000369332.3:p.Ser593LeufsTer17
ENST00000463994.4:c.1776_1777del	ENSP00000485184.1:p.Ser593LeufsTer17
ENST00000623535.1:c.1776_1777del	ENSP00000485244.1:p.Ser593LeufsTer17
NM_001037343.1:c.1776_1777del	NP_001032420.1:p.Ser593LeufsTer17
NM_003159.2:c.1776_1777del	NP_003150.1:p.Ser593LeufsTer17
XM_011545569.1:c.1725_1726del	XP_011543871.1:p.Ser576LeufsTer17
XM_011545570.1:c.1644_1645del	XP_011543872.1:p.Ser549LeufsTer17
XR_950484.1:n.2028_2029del
NM_001323289.1:c.1776_1777del	NP_001310218.1:p.Ser593LeufsTer17
NM_001323289.2:c.1776_1777del MANE Select	NP_001310218.1:p.Ser593LeufsTer17
NM_001037343.2:c.1776_1777del	NP_001032420.1:p.Ser593LeufsTer17
NM_003159.3:c.1776_1777del	NP_003150.1:p.Ser593LeufsTer17