Canonical Allele Identifier: CA16621275
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 418707
ClinVar RCV Id: RCV000481615
dbSNP Id: rs1064793381
MyVariant Identifiers: chrX:g.18622051_18622058del (hg19) chrX:g.18603931_18603938del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603931_18603938del , CM000685.2:g.18603931_18603938del GRCh38
NC_000023.10:g.18622051_18622058del , CM000685.1:g.18622051_18622058del GRCh37
NC_000023.9:g.18531972_18531979del NCBI36
NG_008475.1:g.183327_183334del

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.1007_1014del MANE Select ENSP00000485244.1:p.Gln336ProfsTer4
ENST00000635828.1:c.1007_1014del ENSP00000490170.1:p.Gln336ProfsTer4
ENST00000637881.1:c.1007_1014del ENSP00000489879.1:p.Gln336ProfsTer4
ENST00000674046.1:c.1007_1014del ENSP00000501174.1:p.Gln336ProfsTer4
ENST00000379989.6:c.1007_1014del ENSP00000369325.3:p.Gln336ProfsTer4
ENST00000379996.7:c.1007_1014del ENSP00000369332.3:p.Gln336ProfsTer4
ENST00000463994.4:c.1007_1014del ENSP00000485184.1:p.Gln336ProfsTer4
ENST00000623535.1:c.1007_1014del ENSP00000485244.1:p.Gln336ProfsTer4
NM_001037343.1:c.1007_1014del NP_001032420.1:p.Gln336ProfsTer4
NM_003159.2:c.1007_1014del NP_003150.1:p.Gln336ProfsTer4
XM_011545569.1:c.956_963del XP_011543871.1:p.Gln319ProfsTer4
XM_011545570.1:c.875_882del XP_011543872.1:p.Gln292ProfsTer4
XR_950484.1:n.1259_1266del
NM_001323289.1:c.1007_1014del NP_001310218.1:p.Gln336ProfsTer4
NM_001323289.2:c.1007_1014del MANE Select NP_001310218.1:p.Gln336ProfsTer4
NM_001037343.2:c.1007_1014del NP_001032420.1:p.Gln336ProfsTer4
NM_003159.3:c.1007_1014del NP_003150.1:p.Gln336ProfsTer4
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