Canonical Allele Identifier: CA294687
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156649
ClinVar RCV Id: RCV000144792
dbSNP Id: rs587783121
MyVariant Identifiers: chrX:g.18631373dupA (hg19) chrX:g.18613253dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18613253dup , CM000685.2:g.18613253dup GRCh38
NC_000023.10:g.18631373dup , CM000685.1:g.18631373dup GRCh37
NC_000023.9:g.18541294dup NCBI36
NG_008475.1:g.192649dup

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.2254dup MANE Select ENSP00000485244.1:p.Arg752LysfsTer12
ENST00000635828.1:c.2254dup ENSP00000490170.1:p.Arg752LysfsTer12
ENST00000674046.1:c.2254dup ENSP00000501174.1:p.Arg752LysfsTer12
ENST00000379989.6:c.2254dup ENSP00000369325.3:p.Arg752LysfsTer12
ENST00000379996.7:c.2254dup ENSP00000369332.3:p.Arg752LysfsTer12
ENST00000463994.4:c.2254dup ENSP00000485184.1:p.Arg752LysfsTer12
ENST00000623535.1:c.2254dup ENSP00000485244.1:p.Arg752LysfsTer12
NM_001037343.1:c.2254dup NP_001032420.1:p.Arg752LysfsTer12
NM_003159.2:c.2254dup NP_003150.1:p.Arg752LysfsTer12
XM_011545569.1:c.2203dup XP_011543871.1:p.Arg735LysfsTer12
XM_011545570.1:c.2122dup XP_011543872.1:p.Arg708LysfsTer12
XR_950484.1:n.2506dup
NM_001323289.1:c.2254dup NP_001310218.1:p.Arg752LysfsTer12
NM_001323289.2:c.2254dup MANE Select NP_001310218.1:p.Arg752LysfsTer12
NM_001037343.2:c.2254dup NP_001032420.1:p.Arg752LysfsTer12
NM_003159.3:c.2254dup NP_003150.1:p.Arg752LysfsTer12
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