Canonical Allele Identifier: CA294691
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156653
ClinVar RCV Id: RCV000144796
dbSNP Id: rs587783125
MyVariant Identifiers: chrX:g.18646543del (hg19) chrX:g.18628423del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18628423del , CM000685.2:g.18628423del GRCh38
NC_000023.10:g.18646543del , CM000685.1:g.18646543del GRCh37
NC_000023.9:g.18556464del NCBI36
NG_008475.1:g.207819del

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.2549del MANE Select ENSP00000485244.1:p.Asn850IlefsTer13
ENST00000674046.1:c.2672del ENSP00000501174.1:p.Asn891IlefsTer13
ENST00000379989.6:c.2549del ENSP00000369325.3:p.Asn850IlefsTer13
ENST00000379996.7:c.2549del ENSP00000369332.3:p.Asn850IlefsTer13
ENST00000623535.1:c.2549del ENSP00000485244.1:p.Asn850IlefsTer13
NM_001037343.1:c.2549del NP_001032420.1:p.Asn850IlefsTer13
NM_003159.2:c.2549del NP_003150.1:p.Asn850IlefsTer13
XM_011545569.1:c.2621del XP_011543871.1:p.Asn874IlefsTer13
XM_011545570.1:c.2540del XP_011543872.1:p.Asn847IlefsTer13
XR_950484.1:n.2924del
NM_001323289.1:c.2549del NP_001310218.1:p.Asn850IlefsTer13
NM_001323289.2:c.2549del MANE Select NP_001310218.1:p.Asn850IlefsTer13
NM_001037343.2:c.2549del NP_001032420.1:p.Asn850IlefsTer13
NM_003159.3:c.2549del NP_003150.1:p.Asn850IlefsTer13
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