Canonical Allele Identifier: CA645373291
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 434665
ClinVar RCV Id: RCV000503987
dbSNP Id: rs1555952101
MyVariant Identifiers: chrX:g.18622728_18622731del (hg19) chrX:g.18604608_18604611del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604608_18604611del , CM000685.2:g.18604608_18604611del GRCh38
NC_000023.10:g.18622728_18622731del , CM000685.1:g.18622728_18622731del GRCh37
NC_000023.9:g.18532649_18532652del NCBI36
NG_008475.1:g.184004_184007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1684_1687del MANE Select ENSP00000485244.1:p.Thr562AspfsTer9
ENST00000635828.1:c.1684_1687del ENSP00000490170.1:p.Thr562AspfsTer9
ENST00000674046.1:c.1684_1687del ENSP00000501174.1:p.Thr562AspfsTer9
ENST00000379989.6:c.1684_1687del ENSP00000369325.3:p.Thr562AspfsTer9
ENST00000379996.7:c.1684_1687del ENSP00000369332.3:p.Thr562AspfsTer9
ENST00000463994.4:c.1684_1687del ENSP00000485184.1:p.Thr562AspfsTer9
ENST00000623535.1:c.1684_1687del ENSP00000485244.1:p.Thr562AspfsTer9
NM_001037343.1:c.1684_1687del NP_001032420.1:p.Thr562AspfsTer9
NM_003159.2:c.1684_1687del NP_003150.1:p.Thr562AspfsTer9
XM_011545569.1:c.1633_1636del XP_011543871.1:p.Thr545AspfsTer9
XM_011545570.1:c.1552_1555del XP_011543872.1:p.Thr518AspfsTer9
XR_950484.1:n.1936_1939del
NM_001323289.1:c.1684_1687del NP_001310218.1:p.Thr562AspfsTer9
NM_001323289.2:c.1684_1687del MANE Select NP_001310218.1:p.Thr562AspfsTer9
NM_001037343.2:c.1684_1687del NP_001032420.1:p.Thr562AspfsTer9
NM_003159.3:c.1684_1687del NP_003150.1:p.Thr562AspfsTer9
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