Canonical Allele Identifier: CA170444
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143774
ClinVar RCV Id: RCV000133321
dbSNP Id: rs267608623
MyVariant Identifiers: chrX:g.18622355dupC (hg19) chrX:g.18604235dupC (hg38)
PubMed: PMID:18790821 PMID:19793311
ERepo: CA170444/MONDO:0100039/034
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604235dup , CM000685.2:g.18604235dup GRCh38
NC_000023.10:g.18622355dup , CM000685.1:g.18622355dup GRCh37
NC_000023.9:g.18532276dup NCBI36
NG_008475.1:g.183631dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1311dup MANE Select ENSP00000485244.1:p.Ser438GlnfsTer25
ENST00000635828.1:c.1311dup ENSP00000490170.1:p.Ser438GlnfsTer25
ENST00000637881.1:c.1311dup ENSP00000489879.1:p.Ser438GlnfsTer25
ENST00000674046.1:c.1311dup ENSP00000501174.1:p.Ser438GlnfsTer25
ENST00000379989.6:c.1311dup ENSP00000369325.3:p.Ser438GlnfsTer25
ENST00000379996.7:c.1311dup ENSP00000369332.3:p.Ser438GlnfsTer25
ENST00000463994.4:c.1311dup ENSP00000485184.1:p.Ser438GlnfsTer25
ENST00000623535.1:c.1311dup ENSP00000485244.1:p.Ser438GlnfsTer25
NM_001037343.1:c.1311dup NP_001032420.1:p.Ser438GlnfsTer25
NM_003159.2:c.1311dup NP_003150.1:p.Ser438GlnfsTer25
XM_011545569.1:c.1260dup XP_011543871.1:p.Ser421GlnfsTer25
XM_011545570.1:c.1179dup XP_011543872.1:p.Ser394GlnfsTer25
XR_950484.1:n.1563dup
NM_001323289.1:c.1311dup NP_001310218.1:p.Ser438GlnfsTer25
NM_001323289.2:c.1311dup MANE Select NP_001310218.1:p.Ser438GlnfsTer25
NM_001037343.2:c.1311dup NP_001032420.1:p.Ser438GlnfsTer25
NM_003159.3:c.1311dup NP_003150.1:p.Ser438GlnfsTer25
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