Canonical Allele Identifier: CA199399

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 189588
• ClinVar RCV Id: RCV000170040
• MyVariant Identifiers: chrX:g.18598626_18602532del (hg19) ; chrX:g.18580506_18584412del (hg38)
• PubMed: PMID:19780792

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18580508_18584414del , CM000685.2:g.18580508_18584414del	GRCh38
NC_000023.10:g.18598628_18602534del , CM000685.1:g.18598628_18602534del	GRCh37
NC_000023.9:g.18508549_18512455del	NCBI36
NG_008475.1:g.159904_163810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.403+540_554+61del
ENST00000635828.1:c.403+540_554+61del
ENST00000637881.1:c.403+540_554+61del
ENST00000674046.1:c.403+540_554+61del
ENST00000379989.6:c.403+540_554+61del
ENST00000379996.7:c.403+540_554+61del
ENST00000463994.4:c.403+540_554+61del
ENST00000623535.1:c.403+540_554+61del
NM_001037343.1:c.403+540_554+61del
NM_003159.2:c.403+540_554+61del
XM_011545569.1:c.403+540_554+61del
XM_011545570.1:c.271+540_422+61del
XR_950484.1:n.655+540_806+61del
NM_001323289.1:c.403+540_554+61del
NM_001323289.2:c.403+540_554+61del
NM_001037343.2:c.403+540_554+61del
NM_003159.3:c.403+540_554+61del