Canonical Allele Identifier: CA913190338
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 625912
ClinVar RCV Id: RCV000767923
dbSNP Id: rs1569219331
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604071_18604075del , CM000685.2:g.18604071_18604075del GRCh38
NC_000023.10:g.18622191_18622195del , CM000685.1:g.18622191_18622195del GRCh37
NC_000023.9:g.18532112_18532116del NCBI36
NG_008475.1:g.183467_183471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1147_1151del MANE Select ENSP00000485244.1:p.Thr383ProfsTer23
ENST00000635828.1:c.1147_1151del ENSP00000490170.1:p.Thr383ProfsTer23
ENST00000637881.1:c.1147_1151del ENSP00000489879.1:p.Thr383ProfsTer23
ENST00000674046.1:c.1147_1151del ENSP00000501174.1:p.Thr383ProfsTer23
ENST00000379989.6:c.1147_1151del ENSP00000369325.3:p.Thr383ProfsTer23
ENST00000379996.7:c.1147_1151del ENSP00000369332.3:p.Thr383ProfsTer23
ENST00000463994.4:c.1147_1151del ENSP00000485184.1:p.Thr383ProfsTer23
ENST00000623535.1:c.1147_1151del ENSP00000485244.1:p.Thr383ProfsTer23
NM_001037343.1:c.1147_1151del NP_001032420.1:p.Thr383ProfsTer23
NM_003159.2:c.1147_1151del NP_003150.1:p.Thr383ProfsTer23
XM_011545569.1:c.1096_1100del XP_011543871.1:p.Thr366ProfsTer23
XM_011545570.1:c.1015_1019del XP_011543872.1:p.Thr339ProfsTer23
XR_950484.1:n.1399_1403del
NM_001323289.1:c.1147_1151del NP_001310218.1:p.Thr383ProfsTer23
NM_001323289.2:c.1147_1151del MANE Select NP_001310218.1:p.Thr383ProfsTer23
NM_001037343.2:c.1147_1151del NP_001032420.1:p.Thr383ProfsTer23
NM_003159.3:c.1147_1151del NP_003150.1:p.Thr383ProfsTer23
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