Canonical Allele Identifier: CA2693222666
Gene: CDKL5 HGNC NCBI

Linked Data

gnomAD v4: X-18603992-TGACGAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603994_18603999del , CM000685.2:g.18603994_18603999del GRCh38
NC_000023.10:g.18622114_18622119del , CM000685.1:g.18622114_18622119del GRCh37
NC_000023.9:g.18532035_18532040del NCBI36
NG_008475.1:g.183390_183395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1070_1075del MANE Select ENSP00000485244.1:p.Asp357_Glu358del
ENST00000635828.1:c.1070_1075del ENSP00000490170.1:p.Asp357_Glu358del
ENST00000637881.1:c.1070_1075del ENSP00000489879.1:p.Asp357_Glu358del
ENST00000674046.1:c.1070_1075del ENSP00000501174.1:p.Asp357_Glu358del
ENST00000379989.6:c.1070_1075del ENSP00000369325.3:p.Asp357_Glu358del
ENST00000379996.7:c.1070_1075del ENSP00000369332.3:p.Asp357_Glu358del
ENST00000463994.4:c.1070_1075del ENSP00000485184.1:p.Asp357_Glu358del
ENST00000623535.1:c.1070_1075del ENSP00000485244.1:p.Asp357_Glu358del
NM_001037343.1:c.1070_1075del NP_001032420.1:p.Asp357_Glu358del
NM_003159.2:c.1070_1075del NP_003150.1:p.Asp357_Glu358del
XM_011545569.1:c.1019_1024del XP_011543871.1:p.Asp340_Glu341del
XM_011545570.1:c.938_943del XP_011543872.1:p.Asp313_Glu314del
XR_950484.1:n.1322_1327del
NM_001323289.1:c.1070_1075del NP_001310218.1:p.Asp357_Glu358del
NM_001323289.2:c.1070_1075del MANE Select NP_001310218.1:p.Asp357_Glu358del
NM_001037343.2:c.1070_1075del NP_001032420.1:p.Asp357_Glu358del
NM_003159.3:c.1070_1075del NP_003150.1:p.Asp357_Glu358del
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