Canonical Allele Identifier: CA16616462
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 408123
ClinVar RCV Id: RCV000464248
dbSNP Id: rs1060501860
MyVariant Identifiers: chrX:g.18627008del (hg19) chrX:g.18608888del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18608888del , CM000685.2:g.18608888del GRCh38
NC_000023.10:g.18627008del , CM000685.1:g.18627008del GRCh37
NC_000023.9:g.18536929del NCBI36
NG_008475.1:g.188284del

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.2022del MANE Select ENSP00000485244.1:p.Phe675SerfsTer?
ENST00000635828.1:c.2022del ENSP00000490170.1:p.Phe675SerfsTer?
ENST00000674046.1:c.2022del ENSP00000501174.1:p.Phe675SerfsTer?
ENST00000379989.6:c.2022del ENSP00000369325.3:p.Phe675SerfsTer?
ENST00000379996.7:c.2022del ENSP00000369332.3:p.Phe675SerfsTer?
ENST00000463994.4:c.2022del ENSP00000485184.1:p.Phe675SerfsTer?
ENST00000623535.1:c.2022del ENSP00000485244.1:p.Phe675SerfsTer?
NM_001037343.1:c.2022del NP_001032420.1:p.Phe675SerfsTer?
NM_003159.2:c.2022del NP_003150.1:p.Phe675SerfsTer?
XM_011545569.1:c.1971del XP_011543871.1:p.Phe658SerfsTer?
XM_011545570.1:c.1890del XP_011543872.1:p.Phe631SerfsTer?
XR_950484.1:n.2274del
NM_001323289.1:c.2022del NP_001310218.1:p.Phe675SerfsTer?
NM_001323289.2:c.2022del MANE Select NP_001310218.1:p.Phe675SerfsTer?
NM_001037343.2:c.2022del NP_001032420.1:p.Phe675SerfsTer?
NM_003159.3:c.2022del NP_003150.1:p.Phe675SerfsTer?
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