Canonical Allele Identifier: CA1139667241

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 871042
• ClinVar RCV Id: RCV001090793
• dbSNP Id: rs1926254082

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603913_18603934del , CM000685.2:g.18603913_18603934del	GRCh38
NC_000023.10:g.18622033_18622054del , CM000685.1:g.18622033_18622054del	GRCh37
NC_000023.9:g.18531954_18531975del	NCBI36
NG_008475.1:g.183309_183330del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.989_1010del MANE Select	ENSP00000485244.1:p.Gly330ValfsTer13
ENST00000635828.1:c.989_1010del	ENSP00000490170.1:p.Gly330ValfsTer13
ENST00000637881.1:c.989_1010del	ENSP00000489879.1:p.Gly330ValfsTer13
ENST00000674046.1:c.989_1010del	ENSP00000501174.1:p.Gly330ValfsTer13
ENST00000379989.6:c.989_1010del	ENSP00000369325.3:p.Gly330ValfsTer13
ENST00000379996.7:c.989_1010del	ENSP00000369332.3:p.Gly330ValfsTer13
ENST00000463994.4:c.989_1010del	ENSP00000485184.1:p.Gly330ValfsTer13
ENST00000623535.1:c.989_1010del	ENSP00000485244.1:p.Gly330ValfsTer13
NM_001037343.1:c.989_1010del	NP_001032420.1:p.Gly330ValfsTer13
NM_003159.2:c.989_1010del	NP_003150.1:p.Gly330ValfsTer13
XM_011545569.1:c.938_959del	XP_011543871.1:p.Gly313ValfsTer13
XM_011545570.1:c.857_878del	XP_011543872.1:p.Gly286ValfsTer13
XR_950484.1:n.1241_1262del
NM_001323289.1:c.989_1010del	NP_001310218.1:p.Gly330ValfsTer13
NM_001323289.2:c.989_1010del MANE Select	NP_001310218.1:p.Gly330ValfsTer13
NM_001037343.2:c.989_1010del	NP_001032420.1:p.Gly330ValfsTer13
NM_003159.3:c.989_1010del	NP_003150.1:p.Gly330ValfsTer13