Canonical Allele Identifier: CA2573158470
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1422610
ClinVar RCV Id: RCV001926187
dbSNP Id: rs2147161009
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604610del , CM000685.2:g.18604610del GRCh38
NC_000023.10:g.18622730del , CM000685.1:g.18622730del GRCh37
NC_000023.9:g.18532651del NCBI36
NG_008475.1:g.184006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1686del MANE Select ENSP00000485244.1:p.Arg563AspfsTer9
ENST00000635828.1:c.1686del ENSP00000490170.1:p.Arg563AspfsTer9
ENST00000674046.1:c.1686del ENSP00000501174.1:p.Arg563AspfsTer9
ENST00000379989.6:c.1686del ENSP00000369325.3:p.Arg563AspfsTer9
ENST00000379996.7:c.1686del ENSP00000369332.3:p.Arg563AspfsTer9
ENST00000463994.4:c.1686del ENSP00000485184.1:p.Arg563AspfsTer9
ENST00000623535.1:c.1686del ENSP00000485244.1:p.Arg563AspfsTer9
NM_001037343.1:c.1686del NP_001032420.1:p.Arg563AspfsTer9
NM_003159.2:c.1686del NP_003150.1:p.Arg563AspfsTer9
XM_011545569.1:c.1635del XP_011543871.1:p.Arg546AspfsTer9
XM_011545570.1:c.1554del XP_011543872.1:p.Arg519AspfsTer9
XR_950484.1:n.1938del
NM_001323289.1:c.1686del NP_001310218.1:p.Arg563AspfsTer9
NM_001323289.2:c.1686del MANE Select NP_001310218.1:p.Arg563AspfsTer9
NM_001037343.2:c.1686del NP_001032420.1:p.Arg563AspfsTer9
NM_003159.3:c.1686del NP_003150.1:p.Arg563AspfsTer9
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