Canonical Allele Identifier: CA645373290
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 434662
ClinVar RCV Id: RCV000504427 RCV001507063 RCV002524164
dbSNP Id: rs1555951997
MyVariant Identifiers: chrX:g.18622340_18622342del (hg19) chrX:g.18604220_18604222del (hg38)
ERepo: CA645373290/MONDO:0100039/016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604220_18604222del , CM000685.2:g.18604220_18604222del GRCh38
NC_000023.10:g.18622340_18622342del , CM000685.1:g.18622340_18622342del GRCh37
NC_000023.9:g.18532261_18532263del NCBI36
NG_008475.1:g.183616_183618del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1296_1298del MANE Select ENSP00000485244.1:p.Lys432_Tyr433delinsAsn
ENST00000635828.1:c.1296_1298del ENSP00000490170.1:p.Lys432_Tyr433delinsAsn
ENST00000637881.1:c.1296_1298del ENSP00000489879.1:p.Lys432_Tyr433delinsAsn
ENST00000674046.1:c.1296_1298del ENSP00000501174.1:p.Lys432_Tyr433delinsAsn
ENST00000379989.6:c.1296_1298del ENSP00000369325.3:p.Lys432_Tyr433delinsAsn
ENST00000379996.7:c.1296_1298del ENSP00000369332.3:p.Lys432_Tyr433delinsAsn
ENST00000463994.4:c.1296_1298del ENSP00000485184.1:p.Lys432_Tyr433delinsAsn
ENST00000623535.1:c.1296_1298del ENSP00000485244.1:p.Lys432_Tyr433delinsAsn
NM_001037343.1:c.1296_1298del NP_001032420.1:p.Lys432_Tyr433delinsAsn
NM_003159.2:c.1296_1298del NP_003150.1:p.Lys432_Tyr433delinsAsn
XM_011545569.1:c.1245_1247del XP_011543871.1:p.Lys415_Tyr416delinsAsn
XM_011545570.1:c.1164_1166del XP_011543872.1:p.Lys388_Tyr389delinsAsn
XR_950484.1:n.1548_1550del
NM_001323289.1:c.1296_1298del NP_001310218.1:p.Lys432_Tyr433delinsAsn
NM_001323289.2:c.1296_1298del MANE Select NP_001310218.1:p.Lys432_Tyr433delinsAsn
NM_001037343.2:c.1296_1298del NP_001032420.1:p.Lys432_Tyr433delinsAsn
NM_003159.3:c.1296_1298del NP_003150.1:p.Lys432_Tyr433delinsAsn
Search 100 bp 5'
Search 100 bp 3'