Canonical Allele Identifier: CA235608
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 189554
ClinVar RCV Id: RCV000169994 RCV000416945 RCV000624117 RCV001385705 RCV001507057 RCV003493482
dbSNP Id: rs786204967
MyVariant Identifiers: chrX:g.18622291_18622292del (hg19) chrX:g.18604171_18604172del (hg38)
PubMed: PMID:15492925 PMID:18266744 PMID:19241098 PMID:19471977 PMID:19793311 PMID:21775177 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22872100 PMID:23064044 PMID:23151060 PMID:23583054 PMID:24564546 PMID:24916645 PMID:25266480 PMID:26708753 PMID:27528505
ERepo: CA235608/MONDO:0100039/016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604171_18604172del , CM000685.2:g.18604171_18604172del GRCh38
NC_000023.10:g.18622291_18622292del , CM000685.1:g.18622291_18622292del GRCh37
NC_000023.9:g.18532212_18532213del NCBI36
NG_008475.1:g.183567_183568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1247_1248del MANE Select ENSP00000485244.1:p.Glu416ValfsTer2
ENST00000635828.1:c.1247_1248del ENSP00000490170.1:p.Glu416ValfsTer2
ENST00000637881.1:c.1247_1248del ENSP00000489879.1:p.Glu416ValfsTer2
ENST00000674046.1:c.1247_1248del ENSP00000501174.1:p.Glu416ValfsTer2
ENST00000379989.6:c.1247_1248del ENSP00000369325.3:p.Glu416ValfsTer2
ENST00000379996.7:c.1247_1248del ENSP00000369332.3:p.Glu416ValfsTer2
ENST00000463994.4:c.1247_1248del ENSP00000485184.1:p.Glu416ValfsTer2
ENST00000623535.1:c.1247_1248del ENSP00000485244.1:p.Glu416ValfsTer2
NM_001037343.1:c.1247_1248del NP_001032420.1:p.Glu416ValfsTer2
NM_003159.2:c.1247_1248del NP_003150.1:p.Glu416ValfsTer2
XM_011545569.1:c.1196_1197del XP_011543871.1:p.Glu399ValfsTer2
XM_011545570.1:c.1115_1116del XP_011543872.1:p.Glu372ValfsTer2
XR_950484.1:n.1499_1500del
NM_001323289.1:c.1247_1248del NP_001310218.1:p.Glu416ValfsTer2
NM_001323289.2:c.1247_1248del MANE Select NP_001310218.1:p.Glu416ValfsTer2
NM_001037343.2:c.1247_1248del NP_001032420.1:p.Glu416ValfsTer2
NM_003159.3:c.1247_1248del NP_003150.1:p.Glu416ValfsTer2
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