Canonical Allele Identifier: CA658799608
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 502250
ClinVar RCV Id: RCV000597503
dbSNP Id: rs1555951958
MyVariant Identifiers: chrX:g.18622155del (hg19) chrX:g.18604035del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604035del , CM000685.2:g.18604035del GRCh38
NC_000023.10:g.18622155del , CM000685.1:g.18622155del GRCh37
NC_000023.9:g.18532076del NCBI36
NG_008475.1:g.183431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1111del MANE Select ENSP00000485244.1:p.Ala372LeufsTer?
ENST00000635828.1:c.1111del ENSP00000490170.1:p.Ala372LeufsTer?
ENST00000637881.1:c.1111del ENSP00000489879.1:p.Ala372LeufsTer?
ENST00000674046.1:c.1111del ENSP00000501174.1:p.Ala372LeufsTer?
ENST00000379989.6:c.1111del ENSP00000369325.3:p.Ala372LeufsTer?
ENST00000379996.7:c.1111del ENSP00000369332.3:p.Ala372LeufsTer?
ENST00000463994.4:c.1111del ENSP00000485184.1:p.Ala372LeufsTer?
ENST00000623535.1:c.1111del ENSP00000485244.1:p.Ala372LeufsTer?
NM_001037343.1:c.1111del NP_001032420.1:p.Ala372LeufsTer?
NM_003159.2:c.1111del NP_003150.1:p.Ala372LeufsTer?
XM_011545569.1:c.1060del XP_011543871.1:p.Ala355LeufsTer?
XM_011545570.1:c.979del XP_011543872.1:p.Ala328LeufsTer?
XR_950484.1:n.1363del
NM_001323289.1:c.1111del NP_001310218.1:p.Ala372LeufsTer?
NM_001323289.2:c.1111del MANE Select NP_001310218.1:p.Ala372LeufsTer?
NM_001037343.2:c.1111del NP_001032420.1:p.Ala372LeufsTer?
NM_003159.3:c.1111del NP_003150.1:p.Ala372LeufsTer?
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